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
LRP1B	53353	broad.mit.edu	37	2	142012121	142012121	+	Missense_Mutation	SNP	C	T	T	rs145092192		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:142012121C>T	uc002tvj.1	-	3	1405	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	145	EGF-like 1.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.E145K(2)		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)		TCTGTTATTTCGAATCCATCC	0.343000										TSP Lung(27;0.18)				15			27		0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307821	39307821	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:39307821C>T	uc021wwc.1	-	1	316	c.276G>A	c.(274-276)aaG>aaA	p.K92K	CX3CR1_uc021wwa.1_Silent_p.K60K|CX3CR1_uc021wwb.1_Silent_p.K60K|CX3CR1_uc003cjl.3_Silent_p.K60K|CX3CR1_uc021wwd.1_Silent_p.K60K	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	60					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	p.L91L(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TCTTGGGCTTCTTGCTGTTGG	0.478000														64			16		0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234565060	234565060	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:234565060G>A	uc001hwd.3	-	16	2882	c.2882C>T	c.(2881-2883)tCc>tTc	p.S961F		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	961					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity	p.S961F(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TGATTCAGAGGAAGTCAGAAG	0.338000														77			6		0	0	1	0	0
DUXA	503835	broad.mit.edu	37	19	57666725	57666725	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:57666725G>A	uc002qoa.1	-	4	499	c.454C>T	c.(454-456)Cga>Tga	p.R152*		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	152						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		CTAGATCTTCGATTTTGGAAC	0.383000														42			7		0	0	1	0	0
FRG2B	441581	broad.mit.edu	37	10	135440219	135440219	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:135440219G>A	uc010qvg.2	-	0	81	c.28C>T	c.(28-30)Ctc>Ttc	p.L10F		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	10						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GAGCAGTGGAGATCGGGGTCT	0.502000														264			52		0	0	1	0	0
TCP11	6954	broad.mit.edu	37	6	35088319	35088319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:35088319G>A	uc003okd.2	-	6	1040	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	TCP11_uc003ojz.1_Missense_Mutation_p.P212S|TCP11_uc003oka.2_Missense_Mutation_p.P212S|TCP11_uc003okb.2_Missense_Mutation_p.P211S|TCP11_uc011dsu.1_Missense_Mutation_p.P269S|TCP11_uc003okc.2_Missense_Mutation_p.P211S|TCP11_uc011dsv.1_Missense_Mutation_p.P236S|TCP11_uc011dsw.1_Missense_Mutation_p.P241S	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	274					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						TTGGGAGAGGGGCCAGCCACA	0.567000														90			19		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059369	9059369	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9059369C>T	uc002mkp.3	-	2	28281	c.28077G>A	c.(28075-28077)agG>agA	p.R9359R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9361	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGATTCTTTCCTTGTGAGGG	0.517000														90			32		0	0	1	0	0
GPR56	9289	broad.mit.edu	37	16	57693312	57693313	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:57693312_57693313CC>TT	uc002emb.2	+	11	1584_1585	c.1292_1293CC>TT	c.(1291-1293)ccc>cTT	p.P431L	GPR56_uc002elz.1_Missense_Mutation_p.P261L|GPR56_uc002ema.1_Missense_Mutation_p.P256L|GPR56_uc002emc.2_Intron|GPR56_uc002emf.2_Intron|GPR56_uc010vhs.1_Missense_Mutation_p.P431L|GPR56_uc002emd.2_Intron|GPR56_uc002eme.2_Intron|GPR56_uc010vht.1_Intron|GPR56_uc002emg.3_Intron|GPR56_uc010vhu.1_Intron	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	Homo sapiens G protein-coupled receptor 56 (GPR56), transcript variant 1, mRNA.	431					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						ACCAGGGTGCCCCTGCCGTGCA	0.634000														34			11		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131844299	131844299	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:131844299C>T	uc003vra.4	-	24	4822	c.4593G>A	c.(4591-4593)aaG>aaA	p.K1531K		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1531						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						CATCCAGAATCTTCTCCTTGA	0.552000														130			87		0	0	1	0	0
MTIF2	4528	broad.mit.edu	37	2	55489532	55489532	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:55489532G>T	uc002ryn.3	-	5	988	c.251C>A	c.(250-252)tCa>tAa	p.S84*	MTIF2_uc010yox.2_5'UTR|MTIF2_uc002ryo.3_Nonsense_Mutation_p.S84*	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	84					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						AGATTTTGTTGAAGATAACTG	0.318000														142			22		3.85864e-22	3.90607e-22	1	1	0
OR4D9	390199	broad.mit.edu	37	11	59282883	59282883	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:59282883C>T	uc010rkv.2	+	0	498	c.498C>T	c.(496-498)ctC>ctT	p.L166L		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TGCTCCCACTCCCTTTCTGTG	0.547000														49			45		0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35850311	35850311	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:35850311C>T	uc002nzd.3	+	1	594	c.519C>T	c.(517-519)ttC>ttT	p.F173F	FFAR3_uc021usm.1_Silent_p.F173F	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	173						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			ACCTGGAGTTCCGGAAGGACC	0.607000														64			20		0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944167	55944167	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55944167C>T	uc010rjb.2	+	0	74	c.74C>T	c.(73-75)gCt>gTt	p.A25V		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GAACTAAAAGCTGTGCTTTTT	0.388000														75			57		0	0	1	0	0
NAA11	84779	broad.mit.edu	37	4	80246584	80246584	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:80246584C>T	uc003hlt.4	-	0	588	c.448G>A	c.(448-450)Gat>Aat	p.D150N	NAA11_uc021xpl.1_Missense_Mutation_p.D150N	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA.	150	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	p.R149W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TGCGAGAGATCCCGCTTCATA	0.522000														41			26		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363619	22363619	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:22363619C>T	uc002nqs.1	-	2	1218	c.900G>A	c.(898-900)aaG>aaA	p.K300K		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TATGAATTCTCTTATGTTCCA	0.438000														40			18		0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110450793	110450793	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:110450793C>T	uc001pkz.1	-	15	3162	c.2877G>A	c.(2875-2877)caG>caA	p.Q959Q	ARHGAP20_uc001pky.1_Silent_p.Q936Q|ARHGAP20_uc009yyb.1_Silent_p.Q923Q|ARHGAP20_uc001pla.1_Silent_p.Q923Q|ARHGAP20_uc001plb.2_Silent_p.Q502Q	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	959	Ser-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GTTCAGAAATCTGAGAAAAAG	0.473000														15			23		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50789892	50789892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:50789892C>T	uc010enu.1	+	33	4740	c.4693C>T	c.(4693-4695)Cgg>Tgg	p.R1565W	MYH14_uc002prq.1_Missense_Mutation_p.R1532W|MYH14_uc002prr.1_Missense_Mutation_p.R1524W|MYH14_uc010ycb.2_Intron|MYH14_uc002prs.1_5'UTR	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1524					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCGGCAGAACCGGGCCCTGCG	0.711000														17			5		0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31014622	31014622	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:31014622G>A	uc003tbx.3	+	8	897	c.849G>A	c.(847-849)tgG>tgA	p.W283*	GHRHR_uc003tby.3_Nonsense_Mutation_p.W219*|GHRHR_uc003tbz.3_Missense_Mutation_p.D50N	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	283					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CCTACTGGTGGATCATCAAAG	0.587000											OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		76			49		0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44713500	44713500	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:44713500G>A	uc003tln.3	+	5	907	c.748G>A	c.(748-750)Gag>Aag	p.E250K	OGDH_uc003tlm.3_Missense_Mutation_p.E250K|OGDH_uc011kbx.2_Missense_Mutation_p.E246K|OGDH_uc011kby.2_Intron|OGDH_uc003tlp.3_Missense_Mutation_p.E261K|OGDH_uc011kbz.2_Intron|OGDH_uc003tlo.1_Missense_Mutation_p.E83K	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	250					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CACAAATGAGGAGAAACGGAC	0.577000														98			12		0	0	1	0	0
EPB49	2039	broad.mit.edu	37	8	21925112	21925112	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:21925112C>T	uc022asw.1	+	2	206	c.168C>T	c.(166-168)atC>atT	p.I56I	EPB49_uc022asq.1_Silent_p.I56I|EPB49_uc011kys.1_Silent_p.I31I|EPB49_uc022asr.1_Silent_p.I56I|EPB49_uc022ass.1_Silent_p.I31I|EPB49_uc022ast.1_Silent_p.I56I|EPB49_uc022asu.1_Silent_p.I56I|EPB49_uc022asv.1_Silent_p.I56I|EPB49_uc022asx.1_Silent_p.I56I|EPB49_uc022asy.1_Silent_p.I31I	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	56					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		TCCTGGACATCGAGCGGCCCG	0.602000														64			20		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1481044	1481044	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:1481044C>T	uc002qwr.3	+	7	1092	c.1006C>T	c.(1006-1008)Cta>Tta	p.L336L	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Silent_p.L336L|TPO_uc002qwx.3_Silent_p.L336L|TPO_uc002qwu.3_Silent_p.L336L|TPO_uc010yio.2_Intron|TPO_uc010yip.2_Silent_p.L336L	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	336					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTCCCCGGCCCTAGAGAGGCA	0.701000														35			4		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22476158	22476158	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:22476158G>A	uc001wcu.4	+	1	192	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc021rpn.1_Missense_Mutation_p.E32K|TCRA_uc010tmm.2_Intron|TCRA_uc001wct.4_3'UTR					RecName: Full=T-cell receptor alpha chain V region HPB-MLT; Flags: Precursor; Fragment;																		AGCGCAGACTGAAATTTCTGT	0.413000														22			8		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553722	19553722	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:19553722C>T	uc001vuz.1	+	0	358	c.306C>T	c.(304-306)tgC>tgT	p.C102C	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	102										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCAAGTGGTGCTGCCACTGCT	0.617000														463			77		0	0	1	0	0
APP	351	broad.mit.edu	37	21	27394171	27394171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:27394171C>T	uc002ylz.3	-	5	1050	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	APP_uc010glk.3_Missense_Mutation_p.E279K|APP_uc002yma.3_Missense_Mutation_p.E284K|APP_uc011ach.2_Missense_Mutation_p.E228K|APP_uc021whz.1_Missense_Mutation_p.E284K|APP_uc021wia.1_Missense_Mutation_p.E284K|APP_uc002ymb.3_Missense_Mutation_p.E284K|APP_uc010glj.3_Missense_Mutation_p.E228K|APP_uc021wib.1_Missense_Mutation_p.E284K|APP_uc011aci.2_Missense_Mutation_p.E249K|APP_uc011acj.2_Missense_Mutation_p.E284K	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	284					G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				ACCACCTCTTCCACAGACTCT	0.527000														19			18		0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25479685	25479685	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:25479685T>A	uc001upt.4	-	6	2744	c.2491A>T	c.(2491-2493)Ata>Tta	p.I831L	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript|CENPJ_uc001upu.3_5'Flank	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	831					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AGGATACCTATTTCATTATTA	0.443000														22			23		0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62812737	62812737	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:62812737C>T	uc010ihh.3	+	12	2494	c.2321C>T	c.(2320-2322)tCt>tTt	p.S774F	LPHN3_uc003hcq.4_Missense_Mutation_p.S774F|LPHN3_uc003hct.3_Missense_Mutation_p.S167F	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	761					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACAAATCATTCTGTTATTGTC	0.393000														15			158		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141079576	141079576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	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)				43			11		0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79842834	79842834	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:79842834G>A	uc001sys.3	+	11	1870	c.1199G>A	c.(1198-1200)cGa>cAa	p.R400Q	SYT1_uc001syt.3_Missense_Mutation_p.R400Q|SYT1_uc001syu.3_Missense_Mutation_p.R397Q|SYT1_uc001syv.3_Missense_Mutation_p.R400Q	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	400					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.R400*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AACCCCAGGCGACCTATTGCC	0.557000														23			29		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47030424	47030424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:47030424C>T	uc003cqp.3	+	2	412	c.233C>T	c.(232-234)gCc>gTc	p.A78V	NBEAL2_uc003cqq.1_Missense_Mutation_p.A71V	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	78							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CTGGAGCAAGCCCTCCTGCTG	0.602000														29			15		0	0	1	0	0
PNMAL2	57469	broad.mit.edu	37	19	46997306	46997306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:46997306C>T	uc002pes.2	-	0	1864	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_5'Flank	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	Homo sapiens PNMA-like 2 (PNMAL2), mRNA.	473										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TTCCCGCCTTCCCAGGCGTTT	0.627000														88			21		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45773598	45773598	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:45773598C>T	uc010gpt.1	+	0	115	c.15C>T	c.(13-15)gcC>gcT	p.A5A	TRPM2_uc002zet.1_Silent_p.A5A|TRPM2_uc002zeu.1_Silent_p.A5A|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.A5A	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	5						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGCCCTCAGCCCTGAGGAAAG	0.632000														2			7		0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21450761	21450761	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:21450761C>A	uc004czx.2	+	2	740	c.260C>A	c.(259-261)aCc>aAc	p.T87N	CNKSR2_uc004czw.3_Missense_Mutation_p.T87N|CNKSR2_uc011mjn.2_Missense_Mutation_p.T87N|CNKSR2_uc011mjo.2_Missense_Mutation_p.T87N	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	87	CRIC.				regulation of signal transduction	cytoplasm|membrane	protein binding	p.T87N(4)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AATCTAAAAACCCTTTCTCAC	0.328000														52			10		3.07112e-06	3.07975e-06	1	1	0
LAMP5	24141	broad.mit.edu	37	20	9510454	9510454	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:9510454A>G	uc002wni.2	+	5	1325	c.830A>G	c.(829-831)aAg>aGg	p.K277R	LAMP5_uc010zrc.2_Missense_Mutation_p.K233R	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	277						integral to membrane											TCCCAGTATAAGCACATGGGC	0.522000														74			16		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16360142	16360142	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:16360142G>A	uc001axu.3	+	19	2133	c.2053G>A	c.(2053-2055)Gct>Act	p.A685T	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Missense_Mutation_p.A642T|CLCNKA_uc001axv.3_Missense_Mutation_p.A684T|CLCNKA_uc021ogl.1_Intron	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	685					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		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;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	AAATCCGCCAGCTCCAAAGTG	0.577000														5			22		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20766725	20766725	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:20766725C>T	uc010kuh.3	+	21	2925	c.2688C>T	c.(2686-2688)ttC>ttT	p.F896F	ABCB5_uc003suw.4_Silent_p.F451F|ABCB5_uc003sux.1_Silent_p.F74F	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	451					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AAAAAGCCTTCGAGCAAATGT	0.323000														50			21		0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247655350	247655350	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:247655350G>A	uc001icz.2	+	0	981	c.921G>A	c.(919-921)gtG>gtA	p.V307V		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-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)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CTTCTGGGGTGGGAGAAAGGG	0.502000														102			18		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12666597	12666597	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:12666597G>A	uc002gno.2	+	13	2896	c.2597G>A	c.(2596-2598)gGa>gAa	p.G866E	MYOCD_uc002gnn.2_Missense_Mutation_p.G818E|MYOCD_uc002gnq.2_Missense_Mutation_p.G542E	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	818					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGCCCCCTAGGAAAGATGAGT	0.478000														32			62		0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55407230	55407230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:55407230C>T	uc003jqu.3	-	9	1497	c.1345G>A	c.(1345-1347)Gcc>Acc	p.A449T	ANKRD55_uc003jqt.3_Missense_Mutation_p.A161T	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	Homo sapiens ankyrin repeat domain 55 (ANKRD55), mRNA.	448										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CTATGGGAGGCTGTTAGGAAG	0.507000														25			13		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30980933	30980933	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:30980933C>T	uc021vfn.1	-	6	877	c.845G>A	c.(844-846)tGg>tAg	p.W282*	CAPN13_uc021vfm.1_Nonsense_Mutation_p.W282*|CAPN13_uc002rnp.1_Nonsense_Mutation_p.W282*	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	282	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GCGCCCTCTCCATTCGGCCTC	0.552000														31			4		0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	84117513	84117513	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:84117513G>A	uc003pjy.3	-	1	451	c.186C>T	c.(184-186)ttC>ttT	p.F62F	ME1_uc011dzb.2_Intron|ME1_uc011dzc.2_Intron	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	62					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TCAGATGCTCGAAATTTTTTA	0.383000														28			24		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179407982	179407982	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179407982C>T	uc021vsy.1	-	295	89239	c.89014G>A	c.(89014-89016)Gag>Aag	p.E29672K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E23367K|TTN_uc021vta.1_Missense_Mutation_p.E23300K|TTN_uc021vtb.1_Missense_Mutation_p.E23175K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30599	Fibronectin type-III 116.						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)			TTGCAGGCCTCGAGAACATAT	0.473000														40			69		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124315152	124315153	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:124315152_124315153CC>TT	uc001uft.4	+	24	4122_4123	c.4097_4098CC>TT	c.(4096-4098)acc>aTT	p.T1366I		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1366	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAACGTTCACCTTGGAAAATA	0.386000														30			21		0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568267	7568267	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:7568267C>T	uc002cys.2	+	4	1134	c.146C>T	c.(145-147)gCg>gTg	p.A49V	RBFOX1_uc010buf.1_Missense_Mutation_p.A49V|RBFOX1_uc002cyr.1_Missense_Mutation_p.A49V|RBFOX1_uc002cyt.2_Missense_Mutation_p.A49V|RBFOX1_uc010uxz.1_Missense_Mutation_p.A92V|RBFOX1_uc010uya.1_Missense_Mutation_p.A85V|RBFOX1_uc002cyv.1_Missense_Mutation_p.A49V|RBFOX1_uc010uyb.1_Missense_Mutation_p.A49V|RBFOX1_uc002cyw.2_Missense_Mutation_p.A69V|RBFOX1_uc002cyy.2_Missense_Mutation_p.A69V|RBFOX1_uc002cyx.2_Missense_Mutation_p.A69V|RBFOX1_uc010uyc.1_Missense_Mutation_p.A69V	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	49					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCCCACCCCGCGCCAGAGTAC	0.657000														92			35		0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231314937	231314937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:231314937G>A	uc002vqt.3	+	7	928	c.787G>A	c.(787-789)Gag>Aag	p.E263K	SP100_uc002vqs.3_Missense_Mutation_p.E263K|SP100_uc002vqu.1_Missense_Mutation_p.E263K|SP100_uc010zmb.2_Missense_Mutation_p.E263K|SP100_uc002vqq.2_Missense_Mutation_p.E263K|SP100_uc010zmc.2_Missense_Mutation_p.E238K|SP100_uc002vqv.2_Missense_Mutation_p.E228K	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	263					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGCTGGAAGGGAGATGCCCTG	0.448000														46			23		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19455440	19455440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:19455440C>T	uc002dgc.4	+	3	1575	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	TMC5_uc010vaq.2_Missense_Mutation_p.R276C|TMC5_uc002dgb.4_Missense_Mutation_p.R276C|TMC5_uc010var.2_Missense_Mutation_p.R276C	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	276						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCCTCATTTCGTCACAGGAG	0.463000														43			21		0	0	1	0	0
BLZF1	8548	broad.mit.edu	37	1	169346076	169346076	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:169346076C>T	uc001gfx.2	+	2	764	c.327C>T	c.(325-327)ttC>ttT	p.F109F	BLZF1_uc001gfw.3_Silent_p.F109F|BLZF1_uc001gfy.3_Silent_p.F109F|BLZF1_uc009wvp.1_Silent_p.F86F	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN	Homo sapiens basic leucine zipper nuclear factor 1 (BLZF1), mRNA.	109					Golgi organization|Golgi to plasma membrane protein transport|cell proliferation|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					AAGGAGAATTCCTTGGTCAGT	0.368000														84			43		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91738999	91738999	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:91738999C>T	uc010aty.3	-	29	6211	c.6057G>A	c.(6055-6057)caG>caA	p.Q2019Q	CCDC88C_uc001xzj.3_Silent_p.Q543Q|CCDC88C_uc001xzi.3_Silent_p.Q469Q	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	2019					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				ACCACACGGTCTGCGGATCCC	0.632000														144			41		0	0	1	0	0
LENEP	55891	broad.mit.edu	37	1	154966191	154966191	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:154966191G>A	uc021pak.1	+	0	108	c.108G>A	c.(106-108)tgG>tgA	p.W36*	LENEP_uc001fgi.3_Nonsense_Mutation_p.W36*	NM_018655	NP_061125	Q9Y5L5	LENEP_HUMAN	Homo sapiens lens epithelial protein (LENEP), mRNA.	36					multicellular organismal development		DNA binding			lung(2)	2	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCACAGGGTGGGAGGGCTTCC	0.607000														47			28		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769065	57769065	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:57769065C>T	uc002yan.3	+	0	2991	c.2991C>T	c.(2989-2991)tcC>tcT	p.S997S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	997						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)					CAGGCCCCTCCCCAGGTGAGG	0.637000														41			22		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119770442	119770442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:119770442G>A	uc004bjt.2	-	5	1468	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	ASTN2_uc022bml.1_Missense_Mutation_p.S156F|ASTN2_uc022bmm.1_Missense_Mutation_p.S156F	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	507						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CACCCATGGGGAGGTGGCATT	0.572000														16			19		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096790	51096790	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:51096790G>A	uc003tps.3	-	10	2359	c.2174C>T	c.(2173-2175)tCc>tTc	p.S725F	COBL_uc003tpr.4_Missense_Mutation_p.S668F|COBL_uc011kcl.2_Missense_Mutation_p.S668F|COBL_uc003tpp.4_Missense_Mutation_p.S454F|COBL_uc003tpq.4_Missense_Mutation_p.S609F|COBL_uc003tpo.4_Missense_Mutation_p.S210F	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	668										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CACCGGTTGGGAATTCACTCT	0.483000														137			25		0	0	1	0	0
FAM19A1	407738	broad.mit.edu	37	3	68055862	68055862	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:68055862C>T	uc003dnd.3	+	1	309	c.93C>T	c.(91-93)ttC>ttT	p.F31F	FAM19A1_uc003dne.3_Silent_p.F31F|FAM19A1_uc003dng.3_Silent_p.F31F|FAM19A1_uc003dnf.1_Non-coding_Transcript	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.	31						endoplasmic reticulum|extracellular region		p.F31F(3)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		AGCACACTTTCCAGCAGCATC	0.498000														91			25		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179404419	179404419	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179404419C>T	uc021vsy.1	-	300	90894	c.90669G>A	c.(90667-90669)agG>agA	p.R30223R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.R23918R|TTN_uc021vta.1_Silent_p.R23851R|TTN_uc021vtb.1_Silent_p.R23726R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31150	Fibronectin type-III 120.						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)			TTCCTATCACCCTGACCTTGA	0.502000														20			42		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63175003	63175003	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:63175003C>T	uc001xfx.3	-	10	2241	c.2190G>A	c.(2188-2190)gaG>gaA	p.E730E	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	730					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GTTGGTTCCTCTCAGGGTCAC	0.557000														62			54		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42694575	42694576	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:42694575_42694576CC>TT	uc010ggo.3	+	6	1224_1225	c.1184_1185CC>TT	c.(1183-1185)tcc>tTT	p.S395F	TOX2_uc002xle.4_Missense_Mutation_p.S353F|TOX2_uc010ggp.3_Missense_Mutation_p.S353F|TOX2_uc002xlf.4_Missense_Mutation_p.S377F|TOX2_uc010zwk.2_Missense_Mutation_p.S273F	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	377	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CCGCCACCCTCCTTCCCGCTCA	0.723000														26			14		0	0	1	0	0
MIDN	90007	broad.mit.edu	37	19	1254385	1254385	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:1254385C>T	uc002lrp.3	+	4	1119	c.604C>T	c.(604-606)Ccc>Tcc	p.P202S		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	Homo sapiens midnolin (MIDN), mRNA.	202						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		CGCCCGAGTCCCCCCGGTGCC	0.766000														1			2		0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443499	5443499	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5443499G>A	uc010qzd.2	+	0	159	c.69G>A	c.(67-69)gaG>gaA	p.E23E	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGATTTGAGGCCTCCCACA	0.507000														127			39		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32012967	32012967	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:32012967G>A	uc003nzl.2	-	31	10939	c.10737C>T	c.(10735-10737)ggC>ggT	p.G3579G	TNXB_uc003nzg.1_Silent_p.G10G|TNXB_uc003nzh.1_Silent_p.G48G	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3626					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AATCAAAGGGGCCCTGGGCCA	0.647000														476			126		0	0	1	0	0
EXOC3	11336	broad.mit.edu	37	5	453731	453731	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:453731G>A	uc003jba.3	+	3	739	c.611G>A	c.(610-612)cGt>cAt	p.R204H		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Homo sapiens exocyst complex component 3 (EXOC3), mRNA.	215					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACTGTCCGCCGTGACCCCACC	0.537000														88			17		0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6078200	6078200	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:6078200C>T	uc002wmr.3	-	6	1717	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	FERMT1_uc010gbt.3_Missense_Mutation_p.E53K|FERMT1_uc002wms.3_Missense_Mutation_p.E310K|FERMT1_uc002wmt.3_Missense_Mutation_p.E53K	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	310	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	p.E309K(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						AACATTTCTTCCTCTGTGCAA	0.418000														59			9		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702850	181702850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:181702850G>A	uc009wxt.3	+	20	3421	c.3226G>A	c.(3226-3228)Gac>Aac	p.D1076N	CACNA1E_uc001gow.3_Missense_Mutation_p.D1076N|CACNA1E_uc009wxs.3_Missense_Mutation_p.D1057N|CACNA1E_uc001gox.1_Missense_Mutation_p.D302N	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1076					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGCCATCCCCGACGTGGACCC	0.657000														39			8		0	0	1	0	0
FAM160B2	64760	broad.mit.edu	37	8	21958161	21958161	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:21958161G>A	uc011kyx.2	+	10	1449	c.1398G>A	c.(1396-1398)ggG>ggA	p.G466G	FAM160B2_uc011kyy.2_Non-coding_Transcript	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	Homo sapiens family with sequence similarity 160, member B2 (FAM160B2), mRNA.	466										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CCCACGAGGGGATCATCCACA	0.622000														78			18		0	0	1	0	0
ACBD4	79777	broad.mit.edu	37	17	43215131	43215131	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:43215131C>T	uc002iid.2	+	6	851	c.507C>T	c.(505-507)tcC>tcT	p.S169S	ACBD4_uc010wjj.2_Missense_Mutation_p.P182L|ACBD4_uc002iie.3_Missense_Mutation_p.P182L|ACBD4_uc002iif.3_Silent_p.S169S|ACBD4_uc002iic.3_Silent_p.S169S|ACBD4_uc010dae.3_Missense_Mutation_p.P104L	NM_001135707	NP_001129179	Q8NC06	ACBD4_HUMAN	Homo sapiens acyl-CoA binding domain containing 4 (ACBD4), transcript variant 5, mRNA.	169							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						CCACAGAGTCCCATTCACCCA	0.592000														153			34		0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56972063	56972063	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56972063G>A	uc002qne.3	-	4	946	c.155C>T	c.(154-156)tCg>tTg	p.S52L	ZNF667_uc010etl.3_5'UTR|ZNF667_uc002qnd.3_Missense_Mutation_p.S52L|ZNF667_uc010etm.3_5'UTR	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S52L(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CTTACCAAGCGAGACCAGGTT	0.502000														81			23		0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25136116	25136116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:25136116C>T	uc003xeg.3	+	4	393	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xef.3_Missense_Mutation_p.P86S	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	86						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGGCGAGCTCCCCCTGGTGCA	0.557000														29			5		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55086354	55086354	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55086354C>T	uc010ern.3	+	4	978	c.509C>T	c.(508-510)tCc>tTc	p.S170F	LILRA1_uc002qgg.4_Missense_Mutation_p.S170F|LILRA1_uc002qgf.3_Missense_Mutation_p.S170F|LILRA1_uc010yfe.1_Missense_Mutation_p.S170F|LILRA1_uc010yff.1_Missense_Mutation_p.S158F|LILRA1_uc010ero.3_Missense_Mutation_p.S158F|LILRA1_uc010yfg.1_Missense_Mutation_p.S170F			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	172	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AACTCCCATTCCCATGCCCGT	0.582000														73			63		0	0	1	0	0
FBXW5	54461	broad.mit.edu	37	9	139835912	139835912	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:139835912G>A	uc004cjx.3	-	7	1432	c.1248C>T	c.(1246-1248)taC>taT	p.Y416Y	FBXW5_uc010nbx.3_Non-coding_Transcript|FBXW5_uc004cjy.3_Silent_p.Y164Y|FBXW5_uc004cjz.3_Silent_p.Y146Y	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	Homo sapiens F-box and WD repeat domain containing 5 (FBXW5), mRNA.	416							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TCACGTACAGGTACCTGGGCG	0.692000														21			8		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23066251	23066251	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:23066251C>T	uc002wsv.3	-	0	727	c.579G>A	c.(577-579)ctG>ctA	p.L193L		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	193					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTGGGCCCCCCAGGGCCAGAG	0.642000														72			15		0	0	1	0	0
AMY2A	279	broad.mit.edu	37	1	104160223	104160224	+	Missense_Mutation	DNP	GG	AA	AA	rs148925092		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:104160223_104160224GG>AA	uc001dut.3	+	0	225_226	c.161_162GG>AA	c.(160-162)ggg>gAA	p.G54E	AMY2A_uc010ouq.1_Missense_Mutation_p.G54E	NM_000699	NP_000690	P04746	AMYP_HUMAN	Homo sapiens amylase, alpha 2A (pancreatic) (AMY2A), mRNA.	54					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding	p.G53E(2)		endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	GGATTTGGAGGGGTTCAGGTGG	0.411000														23			112		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114288854	114288854	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:114288854C>T	uc003ibe.4	+	41	11265	c.11165C>T	c.(11164-11166)tCc>tTc	p.S3722F	ANK2_uc003ibd.4_Missense_Mutation_p.S1628F|ANK2_uc003ibf.4_Missense_Mutation_p.S1637F|ANK2_uc011cgc.2_Missense_Mutation_p.S813F|ANK2_uc003ibg.4_Missense_Mutation_p.S621F|ANK2_uc003ibh.4_Missense_Mutation_p.S311F	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3689					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTTGGTTATTCCACTTTTCAG	0.493000														46			49		0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913368	6913368	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:6913368G>A	uc010rau.2	-	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCAACATAGCGATCATAGGAC	0.483000														39			33		0	0	1	0	0
TMEM229B	161145	broad.mit.edu	37	14	67940517	67940517	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:67940517G>A	uc001xjk.3	-	2	534	c.124C>T	c.(124-126)Cct>Tct	p.P42S	TMEM229B_uc001xjj.1_Non-coding_Transcript|TMEM229B_uc021rvb.1_Missense_Mutation_p.P42S	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	Homo sapiens transmembrane protein 229B (TMEM229B), mRNA.	42						integral to membrane		p.P42S(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GTGACCCCAGGGAACTTCCAG	0.632000														15			10		0	0	1	0	0
HIBADH	11112	broad.mit.edu	37	7	27671959	27671959	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:27671959G>A	uc003szf.3	-	2	571	c.358C>T	c.(358-360)Cta>Tta	p.L120L	HIBADH_uc003szg.3_Silent_p.L71L|HIBADH_uc003szi.3_Silent_p.L71L	NM_152740	NP_689953	P31937	3HIDH_HUMAN	Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA.	120					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	ACATACTTTAGAATCCCATTT	0.348000														458			190		0	0	1	0	0
ZNF623	9831	broad.mit.edu	37	8	144733406	144733406	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:144733406G>A	uc003yzd.2	+	0	1453	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	ZNF623_uc011lkp.1_Missense_Mutation_p.G415E|ZNF623_uc003yzc.2_Missense_Mutation_p.G415E	NM_014789	NP_055604	O75123	ZN623_HUMAN	Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ATTCACACTGGAGAAAAGCCC	0.453000														52			20		0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84560888	84560888	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:84560888A>C	uc004eer.2	-	12	1492	c.1346T>G	c.(1345-1347)tTg>tGg	p.L449W	POF1B_uc004ees.3_Missense_Mutation_p.L449W	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	449							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TTTAGCCTGCAACATTGGGCC	0.388000														25			13		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881455	228881455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:228881455C>T	uc002vpq.2	-	6	4162	c.4115G>A	c.(4114-4116)aGg>aAg	p.R1372K	SPHKAP_uc002vpp.2_Missense_Mutation_p.R1372K|SPHKAP_uc010zlx.1_Missense_Mutation_p.R1372K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1372						cytoplasm	protein binding	p.P1371L(1)		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)		AGAGTCTTTCCTCGGGCAATC	0.478000														20			16		0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117158795	117158795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:117158795G>A	uc001egq.1	-	2	1033	c.328C>T	c.(328-330)Ctt>Ttt	p.L110F	IGSF3_uc001egr.1_Missense_Mutation_p.L110F	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	110	Ig-like C2-type 1.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CGGGCCTGAAGATCTGTGATG	0.522000														32			27		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529426	57529426	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:57529426C>T	uc011kdi.1	+	3	1371	c.1259C>T	c.(1258-1260)tCc>tTc	p.S420F		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TTTAACTGCTCCTCAACCCTT	0.388000														13			9		0	0	1	0	0
EFHC1	114327	broad.mit.edu	37	6	52334254	52334254	+	Missense_Mutation	SNP	C	T	T	rs144389178	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:52334254C>T	uc003pap.4	+	6	1476	c.1261C>T	c.(1261-1263)Cgt>Tgt	p.R421C	EFHC1_uc011dwv.1_Missense_Mutation_p.R330C|EFHC1_uc011dww.2_Missense_Mutation_p.R402C	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.	421	DM10 3.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					CAAGGTGCTTCGTTATTTGGC	0.343000														91			23		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94158136	94158136	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:94158136C>T	uc001ybv.1	+	44	7049	c.6966C>T	c.(6964-6966)atC>atT	p.I2322I	UNC79_uc001ybs.1_Silent_p.I2300I	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2477						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACGCGTTCATCTTTGCTCAGC	0.522000														72			11		0	0	1	0	0
LECT2	3950	broad.mit.edu	37	5	135283133	135283133	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:135283133T>C	uc003lbe.1	-	3	544	c.343A>G	c.(343-345)Aag>Gag	p.K115E	FBXL21_uc003lbc.3_Intron	NM_002302	NP_002293	O14960	LECT2_HUMAN	Homo sapiens leukocyte cell-derived chemotaxin 2 (LECT2), mRNA.	115					chemotaxis|skeletal system development	cytoplasm|extracellular space				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTCCCTTCTTAATAGGACCT	0.353000														38			17		0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228033810	228033810	+	Silent	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:228033810C>A	uc001hrh.3	+	4	882	c.882C>A	c.(880-882)atC>atA	p.I294I		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	294					proteolysis	extracellular region	serine-type endopeptidase activity	p.E293*(1)|p.E293K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACATAGAAATCACGCCCACTC	0.557000														32			50		1.61004e-24	1.63106e-24	1	1	0
MOS	4342	broad.mit.edu	37	8	57026502	57026502	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:57026502C>T	uc011leb.2	-	0	40	c.40G>A	c.(40-42)Gag>Aag	p.E14K		NM_005372	NP_005363	P00540	MOS_HUMAN	Homo sapiens v-mos Moloney murine sarcoma viral oncogene homolog (MOS), mRNA.	14							ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GGGGAAAACTCGCTCCGGAGG	0.682000														25			17		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	66846	66846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrGL000209.1:66846G>A	uc010evd.3	+	6	1099	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qtv.3_Missense_Mutation_p.E270K|KIR2DL2_uc010yic.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc002quc.4_Intron|KIR2DL2_uc002qud.4_Intron|KIR2DL2_uc002quh.4_Intron|KIR2DL2_uc002que.4_Intron|KIR2DL2_uc002quf.4_Intron|KIR2DL2_uc010eve.3_Intron|KIR2DL2_uc002qug.4_Intron|KIR2DL2_uc010evf.3_Non-coding_Transcript	NM_001080772	NP_001074241	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 2, mRNA.	0					regulation of immune response	integral to membrane|plasma membrane	receptor activity										TAAGCCTCACGAAGCAGAGGC	0.542000														28			8		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764026	82764026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:82764026G>A	uc003uhx.2	-	2	3129	c.2840C>T	c.(2839-2841)tCc>tTc	p.S947F	PCLO_uc003uhv.2_Missense_Mutation_p.S947F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	893	Pro-rich.				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						GCCTGCAGTGGAAATTAAATT	0.532000														28			3		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24537620	24537620	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:24537620A>T	uc003jgr.2	-	2	901	c.395T>A	c.(394-396)aTt>aAt	p.I132N	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	132	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A131D(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCTTCTGTTAATAGCTTGTGC	0.393000										HNSCC(23;0.051)				39			87		0	0	1	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021070	142021070	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142021070G>A	uc011krr.1	+	2	235	c.50_splice	c.e2-1	p.G17_splice	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krq.1_Splice_Site_p.G17_splice					SubName: Full=V_segment translation product; Flags: Fragment;																		TTTCCCACAGGCCCAGTAAAG	0.537000														21			5		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201017723	201017723	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:201017723C>T	uc001gvv.3	-	35	4655	c.4428G>A	c.(4426-4428)aaG>aaA	p.K1476K		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1476					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCGTCTTGATCTTGAGTGCCG	0.562000														30			43		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141730444	141730444	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141730444C>T	uc003vwy.3	+	11	1411	c.1357C>T	c.(1357-1359)Cca>Tca	p.P453S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	453	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTTTTAGGATCCAGCCATCTC	0.463000														43			27		0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58322815	58322815	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:58322815C>T	uc002yau.3	+	2	750	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	PHACTR3_uc002yat.3_Silent_p.L92L|PHACTR3_uc010zzw.2_Silent_p.L54L|PHACTR3_uc002yav.3_Silent_p.L54L|PHACTR3_uc002yaw.3_Silent_p.L54L|PHACTR3_uc002yax.3_Silent_p.L54L	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	95						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TTGGGCAGCGCTGGAGAAGAA	0.582000														133			47		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10399779	10399779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10399779C>T	uc002gmo.3	-	33	4838	c.4744G>A	c.(4744-4746)Gaa>Aaa	p.E1582K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1582						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						TCATCTTTTTCAGCAATTTTC	0.448000														98			28		0	0	1	0	0
GABARAPL3	23766	broad.mit.edu	37	15	90892029	90892029	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:90892029C>T	uc010uqf.2	-	0		c.651G>A								Homo sapiens GABA(A) receptors associated protein like 3, pseudogene (GABARAPL3), non-coding RNA.																		CACACCCCTCCCCTACCCCTA	0.512000														7			6		0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65180720	65180720	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:65180720G>A	uc002lke.1	-	1	2380	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	DSEL_uc021ulg.1_Missense_Mutation_p.P386S	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	376						integral to membrane	isomerase activity|sulfotransferase activity	p.P386H(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GCAGTTGAAGGAACCATCGGT	0.443000														24			18		0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201869436	201869436	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:201869436C>T	uc021phl.1	-	1	953	c.705G>A	c.(703-705)gaG>gaA	p.E235E	LMOD1_uc021phm.1_Silent_p.E235E|LMOD1_uc010ppu.2_Silent_p.E184E	NM_012134	NP_036266	P29536	LMOD1_HUMAN	Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA.	235	8 X approximate tandem repeats.				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCTTCTCACCCTCTTTTCTGG	0.463000														18			7		0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63444870	63444870	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:63444870G>A	uc011mou.2	-	9	1876	c.1786C>T	c.(1786-1788)Cca>Tca	p.P596S	MTMR8_uc004dvq.2_Missense_Mutation_p.P212S|MTMR8_uc004dvr.2_Missense_Mutation_p.P221S	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	512						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CGGGGTCTTGGGACACGAGCC	0.537000														7			7		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170103275	170103275	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:170103275G>A	uc002ues.3	-	20	3343	c.3130C>T	c.(3130-3132)Ctc>Ttc	p.L1044F	LRP2_uc010zdf.1_Missense_Mutation_p.L907F	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1044	LDL-receptor class A 8.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCATCACAGAGATAGTAATTG	0.458000														96			39		0	0	1	0	0
ZSCAN23	222696	broad.mit.edu	37	6	28403698	28403698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:28403698C>T	uc003nli.4	-	1	527	c.346G>A	c.(346-348)Gga>Aga	p.G116R	ZSCAN23_uc003nlh.2_Non-coding_Transcript|ZSCAN23_uc010jrf.1_Intron|ZSCAN23_uc011dli.2_Missense_Mutation_p.G116R	NM_001012455	NP_001012458	Q3MJ62	ZSC23_HUMAN	Homo sapiens zinc finger and SCAN domain containing 23 (ZSCAN23), mRNA.	116	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|prostate(1)|stomach(2)	4						GCCTCCTCTCCACTCACAGGA	0.562000														30			3		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149240932	149240932	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:149240932C>T	uc002twm.4	+	9	3769	c.2772C>T	c.(2770-2772)atC>atT	p.I924I	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_5'Flank|MBD5_uc002twp.3_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	924						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CTCTACCTATCTCTTTGCCAG	0.478000														101			44		0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100134886	100134886	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:100134886A>C	uc003huo.2	-	2	233	c.139T>G	c.(139-141)Tgt>Ggt	p.C47G	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_Intron|ADH6_uc003hup.4_Missense_Mutation_p.C47G|ADH6_uc010ile.3_Missense_Mutation_p.C47G	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	47					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TCTGTACCACACAGTCCGGTG	0.483000														70			32		0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17682946	17682946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:17682946G>A	uc001baj.2	+	12	1578	c.1550G>A	c.(1549-1551)gGg>gAg	p.G517E		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	517					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CTGTTCGAAGGGATCAAGAGT	0.602000														6			8		0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68607970	68607970	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:68607970G>A	uc002sen.4	+	2	476	c.314G>A	c.(313-315)gGa>gAa	p.G105E	PLEK_uc010fde.3_Missense_Mutation_p.G105E	NM_002664	NP_002655	P08567	PLEK_HUMAN	Homo sapiens pleckstrin (PLEK), mRNA.	105					actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TGCATTGAAGGAGGCCAGAAA	0.478000														38			149		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90136540	90136540	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:90136540G>A	uc003kju.3	+	77	16853	c.16757G>A	c.(16756-16758)gGa>gAa	p.G5586E	GPR98_uc003kjt.3_Missense_Mutation_p.G3292E|GPR98_uc003kjw.3_Missense_Mutation_p.G1247E	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5586					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)		CCAGAGACAGGATCTTTAAAT	0.423000														96			30		0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109381019	109381019	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:109381019C>T	uc002tem.4	+	19	4150	c.4024C>T	c.(4024-4026)Ctg>Ttg	p.L1342L		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	1342					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGCTGGAAACCTGAATTTTGA	0.388000														24			18		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411705	51411705	+	Missense_Mutation	SNP	C	T	T	rs5029501		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:51411705C>T	uc001nhi.2	-	0	744	c.691G>A	c.(691-693)Ggt>Agt	p.G231S		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	231					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)				AAGGCTTTACCCCTCTTTTCC	0.413000														45			6		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155115612	155115612	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:155115612G>A	uc002tyt.4	+	5	1040	c.936G>A	c.(934-936)atG>atA	p.M312I	GALNT13_uc002tyr.4_Missense_Mutation_p.M312I|GALNT13_uc010foc.1_Missense_Mutation_p.M131I|GALNT13_uc010fod.3_Missense_Mutation_p.M65I	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	312	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			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						ATGCAGGAATGGATATCTGGG	0.368000														55			21		0	0	1	0	0
ZNF211	10520	broad.mit.edu	37	19	58153167	58153167	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58153167C>T	uc002qpr.2	+	5	1808	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	ZNF211_uc010yhb.1_Missense_Mutation_p.S442F|ZNF211_uc002qpp.2_Missense_Mutation_p.S451F|ZNF211_uc002qpq.2_Missense_Mutation_p.S438F|ZNF211_uc002qpt.2_Missense_Mutation_p.S450F|ZNF211_uc010yhc.1_Missense_Mutation_p.S450F|ZNF211_uc010yhe.1_Missense_Mutation_p.S429F|ZNF211_uc010yhd.1_Missense_Mutation_p.S377F	NM_006385	NP_006376	Q13398	ZN211_HUMAN	Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.	438						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S451C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGCAAAGCTCCAGCTTCAGT	0.488000														37			30		0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157551414	157551414	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:157551414C>T	uc001fqw.3	-	6	1292	c.1156G>A	c.(1156-1158)Ggc>Agc	p.G386S	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	386						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GCGACAAGGCCATCTCTGTTG	0.577000														13			22		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829338	146829338	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:146829338G>A	uc003weu.2	+	8	1600	c.1084_splice	c.e8-1	p.G362_splice		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	362	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.G362E(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTTTACAGGGAAATTTGAGC	0.433000										HNSCC(39;0.1)				53			41		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142458423	142458423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142458423G>A	uc003wak.2	+	1	75	c.58G>A	c.(58-60)Gat>Aat	p.D20N	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Intron|PRSS1_uc003wam.2_5'Flank	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	20					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CCCCTTTGATGATGATGACAA	0.527000														171			47		0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42476376	42476376	+	Silent	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:42476376C>A	uc002igw.2	-	7	3288	c.3069G>T	c.(3067-3069)cgG>cgT	p.R1023R	GPATCH8_uc002igv.2_Silent_p.R945R|GPATCH8_uc010wiz.2_Silent_p.R945R	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	1023						intracellular	nucleic acid binding|zinc ion binding	p.R1022C(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GAATGAAGTCCCGACGCCCAG	0.597000														37			11		3.07112e-06	3.07975e-06	1	1	0
MGC16703	113691	broad.mit.edu	37	22	21363575	21363575	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:21363575C>T	uc002zty.4	-	2		c.881G>A			MGC16703_uc010gss.2_Non-coding_Transcript|THAP7-AS1_uc002ztv.3_Non-coding_Transcript					Homo sapiens tubulin, alpha pseudogene (MGC16703), non-coding RNA.																		AGGGCTCCGTCATGGCCATGG	0.562000														177			17		0	0	1	0	0
SMOC2	64094	broad.mit.edu	37	6	168947779	168947779	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:168947779C>T	uc003qwr.2	+	5	745	c.525C>T	c.(523-525)atC>atT	p.I175I	SMOC2_uc003qws.2_Intron	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	Homo sapiens SPARC related modular calcium binding 2 (SMOC2), transcript variant 1, mRNA.	170					signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CCTTGCAAATCTTTTCCGTTC	0.502000														44			26		0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178433445	178433445	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:178433445C>T	uc001glq.3	+	14	4049	c.3285C>T	c.(3283-3285)tcC>tcT	p.S1095S	RASAL2_uc001glr.3_Silent_p.S954S|RASAL2_uc009wxc.3_Silent_p.S468S	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	954					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CCACAATGTCCCCAGTAGAGA	0.478000														49			27		0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60821749	60821749	+	Missense_Mutation	SNP	G	A	A	rs140083317		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:60821749G>A	uc010dds.3	-	5	922	c.637C>T	c.(637-639)Ccc>Tcc	p.P213S	MARCH10_uc010ddr.3_Missense_Mutation_p.P175S|MARCH10_uc002jag.4_Missense_Mutation_p.P175S|MARCH10_uc002jah.2_Missense_Mutation_p.P174S	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	175							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GCTCCCCTGGGAACCGGCACC	0.532000														176			34		0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913210	77913210	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:77913210G>A	uc022bzi.1	-	0	708	c.708C>T	c.(706-708)ttC>ttT	p.F236F	ZCCHC5_uc004edc.1_Silent_p.F236F	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	236							nucleic acid binding|zinc ion binding	p.D235E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						ATTGCAGGGGGAAATCTGTAG	0.502000														1			21		0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53165938	53165938	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:53165938G>A	uc001sax.3	-	4	1131	c.1077C>T	c.(1075-1077)gcC>gcT	p.A359A		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	359	Coil 2.|Rod.		A -> T (in dbSNP:rs6580904).		cytoskeleton organization	keratin filament	structural molecule activity	p.R358H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTCATACTGGGCGCGGACCT	0.582000														2			24		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509961	71509961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:71509961G>A	uc011caw.1	+	8	3099	c.2818G>A	c.(2818-2820)Gaa>Aaa	p.E940K		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	940					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGAGAAGAGGGAAAGCCAAAA	0.458000														41			60		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8590433	8590433	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:8590433C>T	uc002mkg.3	-	24	2922	c.2784G>A	c.(2782-2784)aaG>aaA	p.K928K		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	928						unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TGGCCATTCCCTTCCGCGTAG	0.612000														35			23		0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8122132	8122132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:8122132C>T	uc001mga.3	+	9	1348	c.1199C>T	c.(1198-1200)tCt>tTt	p.S400F	TUB_uc010rbk.2_Missense_Mutation_p.S406F|TUB_uc001mfy.3_Missense_Mutation_p.S455F	NM_177972	NP_813977	P50607	TUB_HUMAN	Homo sapiens tubby homolog (mouse) (TUB), transcript variant 2, mRNA.	400					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GAGAGAGTCTCTATCCGCCCC	0.537000														36			9		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86479781	86479781	+	Silent	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:86479781A>G	uc003uid.3	+	4	3586	c.2487A>G	c.(2485-2487)caA>caG	p.Q829Q	GRM3_uc010lef.3_Missense_Mutation_p.T472A|GRM3_uc010leg.3_Silent_p.Q701Q|GRM3_uc010leh.3_Silent_p.Q421Q	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	829					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCCTGTTTCAACCCCAGAAGA	0.493000														42			43		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116424210	116424210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:116424210G>A	uc001tvw.3	-	18	4254	c.4199C>T	c.(4198-4200)tCc>tTc	p.S1400F		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1400	Leucine-zipper.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAACGGCAAGGAGAATGGCGA	0.512000														33			37		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111562928	111562928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:111562928C>T	uc010yxk.1	+	8	933	c.709C>T	c.(709-711)Cct>Tct	p.P237S	ACOXL_uc021vmm.1_Missense_Mutation_p.P60S|ACOXL_uc021vmn.1_Missense_Mutation_p.P60S	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	237					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						AGCACTGACCCCTTCGAGATT	0.458000														49			17		0	0	1	0	0
HARS	3035	broad.mit.edu	37	5	140062771	140062771	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140062771C>G	uc003lgv.3	-	2	296	c.214G>C	c.(214-216)Gtt>Ctt	p.V72L	HARS_uc003lgu.3_Missense_Mutation_p.V3L|HARS_uc011czm.2_Intron|HARS_uc003lgw.3_Missense_Mutation_p.V72L|HARS_uc011czn.2_Intron|HARS_uc011czo.2_Missense_Mutation_p.V72L|HARS_uc011czp.2_Intron|HARS_uc011czq.2_Missense_Mutation_p.V72L	NM_002109	NP_002100	P12081	SYHC_HUMAN	Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	72					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TTCTCGCGAACTGCCATCTGC	0.458000														53			18		0	0	1	0	0
PDPN	10630	broad.mit.edu	37	1	13910401	13910401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:13910401C>T	uc001avd.3	+	0	150	c.101C>T	c.(100-102)cCc>cTc	p.P34L	PDPN_uc001avc.3_Missense_Mutation_p.P34L|PDPN_uc009vob.3_5'Flank|PDPN_uc009voc.3_5'Flank|PDPN_uc001ave.3_5'Flank|PDPN_uc001avf.3_5'Flank	NM_006474	NP_001006625	Q86YL7	PDPN_HUMAN	Homo sapiens podoplanin (PDPN), transcript variant 1, mRNA.	0					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		GCTCCTGCTCCCACCCCTCCG	0.652000														30			11		0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58917345	58917345	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:58917345C>T	uc010trr.2	+	9	1413	c.1169C>T	c.(1168-1170)cCt>cTt	p.P390L	KIAA0586_uc001xdu.4_Missense_Mutation_p.P322L|KIAA0586_uc010trs.2_Missense_Mutation_p.P252L|KIAA0586_uc001xdt.4_Missense_Mutation_p.P293L|KIAA0586_uc001xdv.4_Missense_Mutation_p.P337L|KIAA0586_uc010trt.2_Missense_Mutation_p.P197L|KIAA0586_uc010tru.1_Missense_Mutation_p.P197L	NM_001244189	NP_001231118	E9PGW8	E9PGW8_HUMAN	Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA.	337								p.P337L(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGAAATCTCCTTTGGAGACA	0.323000														24			13		0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23931842	23931842	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:23931842C>T	uc001ywk.3	-	0	609	c.523G>A	c.(523-525)Gag>Aag	p.E175K		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	175	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.E175Q(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CTGTCCAGCTCCTCGGGCTCC	0.652000									Prader-Willi syndrome					19			12		0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94955960	94955960	+	Silent	SNP	G	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:94955960G>C	uc001ydj.3	-	4	1846	c.1050C>G	c.(1048-1050)ggC>ggG	p.G350G		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	350					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GGCTTACCTCGCCCACTTTCA	0.592000														26			7		0	0	1	0	0
CLDN4	1364	broad.mit.edu	37	7	73245952	73245952	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:73245952C>T	uc003tzi.4	+	0	760	c.421C>T	c.(421-423)Cac>Tac	p.H141Y	CLDN4_uc003tzh.1_Non-coding_Transcript	NM_001305	NP_001296	O14493	CLD4_HUMAN	Homo sapiens claudin 4 (CLDN4), mRNA.	141					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				CTGGACGGCCCACAACATCAT	0.637000														24			35		0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119296250	119296250	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:119296250C>T	uc003pyj.3	-	12	3055	c.2707G>A	c.(2707-2709)Gaa>Aaa	p.E903K	FAM184A_uc003pyk.4_Missense_Mutation_p.E783K|FAM184A_uc003pyl.4_Missense_Mutation_p.E783K|FAM184A_uc003pyi.3_Non-coding_Transcript	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	903										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						AATTCCAGTTCTTTGGTTAGG	0.383000														13			11		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804879	27804879	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:27804879C>T	uc002rkz.4	+	0	5491	c.5440C>T	c.(5440-5442)Cgt>Tgt	p.R1814C	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1814	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GGAGAGGAGCCGTCACAGTCT	0.532000														121			53		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117996324	117996324	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:117996324G>A	uc001two.2	-	7	1348	c.1293C>T	c.(1291-1293)atC>atT	p.I431I		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	460					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)					CTCGGTGGATGATCAGAAGAT	0.507000														51			11		0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33779649	33779649	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:33779649C>T	uc002kzq.4	+	3	326	c.303C>T	c.(301-303)atC>atT	p.I101I		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA.	101					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	Mo-molybdopterin cofactor sulfurase activity|lyase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	CTTCCAGAATCCTGGCGCACT	0.537000														52			23		0	0	1	0	0
SOX13	9580	broad.mit.edu	37	1	204091372	204091372	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:204091372C>G	uc001ham.3	+	8	1464	c.869C>G	c.(868-870)tCc>tGc	p.S290C	SOX13_uc010pqp.2_Missense_Mutation_p.S289C|SOX13_uc010pqq.2_Missense_Mutation_p.S157C	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA.	290	Pro-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGGAGCCCTCCCAGCCCCTG	0.632000														2			6		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891712	18891712	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:18891712G>A	uc001rdy.3	+	0	668	c.510G>A	c.(508-510)tgG>tgA	p.W170*	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	170					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ACGGACTTTGGAAATCTAAAT	0.388000														22			21		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9434098	9434098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:9434098G>A	uc021wam.1	+	28	2964	c.2949G>A	c.(2947-2949)atG>atA	p.M983I	PLCB4_uc010gbw.1_Missense_Mutation_p.M983I|PLCB4_uc010gbx.3_Missense_Mutation_p.M995I|PLCB4_uc021wal.1_Missense_Mutation_p.M983I|PLCB4_uc002wnh.3_Missense_Mutation_p.M830I	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	983					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGAAGGCAATGAAGAAGAAGG	0.388000														20			17		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111556267	111556267	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:111556267C>T	uc010yxk.1	+	5	650	c.426C>T	c.(424-426)gtC>gtT	p.V142V	ACOXL_uc021vmm.1_5'Flank|ACOXL_uc021vmn.1_5'Flank	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	142					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ATGCAGCTGTCTTTGCCCAGC	0.393000														19			29		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762131	130762131	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:130762131G>C	uc003qcb.3	+	1	2942	c.564G>C	c.(562-564)ttG>ttC	p.L188F	TMEM200A_uc003qca.3_Missense_Mutation_p.L188F|TMEM200A_uc010kfh.3_Missense_Mutation_p.L188F|TMEM200A_uc010kfi.3_Missense_Mutation_p.L188F|TMEM200A_uc021zfg.1_Missense_Mutation_p.L188F	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	188						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		ACACTGGTTTGATGGGAGAAA	0.448000														13			7		0	0	1	0	0
SMYD4	114826	broad.mit.edu	37	17	1686346	1686346	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:1686346G>A	uc002ftm.4	-	9	2412	c.2244C>T	c.(2242-2244)gcC>gcT	p.A748A	SMYD4_uc002ftn.1_Silent_p.A603A	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	Homo sapiens SET and MYND domain containing 4 (SMYD4), mRNA.	748							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						AAAAGATCTGGGCCAATTTGA	0.502000														39			31		0	0	1	0	0
ZNF705B	100132396	broad.mit.edu	37	8	7808223	7808223	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:7808223C>T	uc010lro.1	+	5	554	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_001193630	NP_001180559	P0CI00	Z705L_HUMAN	Homo sapiens zinc finger protein 705D-like (LOC100132396), mRNA.	91					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.I90L(2)|p.S91S(1)		kidney(2)|lung(2)	4						CACATGATATCCATGCATCCT	0.333000														27			30		0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47827779	47827779	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:47827779C>T	uc001ngm.3	-	19	2617	c.2532G>A	c.(2530-2532)aaG>aaA	p.K844K	NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Silent_p.K844K	NM_015231	NP_056046	Q12769	NU160_HUMAN	Homo sapiens nucleoporin 160kDa (NUP160), mRNA.	844					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TCAGAGGTGCCTTTGGCTGAG	0.368000														50			12		0	0	1	0	0
GEM	2669	broad.mit.edu	37	8	95272458	95272458	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:95272458C>T	uc003ygi.3	-	1	398	c.274G>A	c.(274-276)Gcc>Acc	p.A92T	GEM_uc003ygj.3_Missense_Mutation_p.A92T	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	92					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding	p.L91L(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			AAGATGTTGGCCAGAGTGGAC	0.597000														29			19		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176681065	176681065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:176681065G>A	uc001gkz.3	+	11	4910	c.3746G>A	c.(3745-3747)aGg>aAg	p.R1249K	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1249					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAGGATGACAGGAGTGAACAG	0.453000														42			47		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544027	82544027	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:82544027G>A	uc003uhx.2	-	6	13564	c.13275C>T	c.(13273-13275)ttC>ttT	p.F4425F	PCLO_uc003uhv.2_Silent_p.F4425F|PCLO_uc010lec.3_Silent_p.F1390F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4356					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						TGGCATGTTGGAAGTCATCCA	0.433000														23			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347416	140347416	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140347416C>T	uc003lii.3	+	0	1670	c.1065C>T	c.(1063-1065)atC>atT	p.I355I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.I355I	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	355	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGACATCGTGGACGTGA	0.577000														15			47		0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22847042	22847042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:22847042C>T	uc002nqw.3	+	3	815	c.571C>T	c.(571-573)Cat>Tat	p.H191Y		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TAAAAGAATTCATACTGGAAA	0.368000														14			6		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324039	79324039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:79324039C>T	uc010mpk.3	-	7	3275	c.3151G>A	c.(3151-3153)Gat>Aat	p.D1051N	PRUNE2_uc022bih.1_Missense_Mutation_p.D873N	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1051					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCATTTTCATCCAGGTTGTGA	0.468000														28			19		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41062138	41062138	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:41062138G>A	uc002ony.3	+	24	5319	c.5233G>A	c.(5233-5235)Gag>Aag	p.E1745K	SPTBN4_uc002onx.3_Missense_Mutation_p.E1745K|SPTBN4_uc002onz.3_Missense_Mutation_p.E1745K|SPTBN4_uc010egx.3_Missense_Mutation_p.E488K|SPTBN4_uc002ooa.3_Missense_Mutation_p.E421K	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1745					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGGATTGCCGAGAAGGAGGT	0.587000														31			34		0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7480447	7480447	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:7480447C>T	uc003src.1	-	20	1813	c.1696G>A	c.(1696-1698)Gga>Aga	p.G566R	COL28A1_uc011jxe.1_Missense_Mutation_p.G249R|COL28A1_uc003srd.3_Missense_Mutation_p.G121R	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	566	Collagen-like 5.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			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)		CCTGGAAGTCCCCTCTGTCCT	0.388000														78			46		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572698	38572698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:38572698C>T	uc002ohk.3	+	2	1002	c.493C>T	c.(493-495)Ccc>Tcc	p.P165S		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	165					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCCTTCCTCCCCCTTCGGCA	0.711000														36			31		0	0	1	0	0
FAM213B	127281	broad.mit.edu	37	1	2520012	2520012	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:2520012G>A	uc001ajv.2	+	4	598	c.552G>A	c.(550-552)ggG>ggA	p.G184G	FAM213B_uc021oew.1_Non-coding_Transcript|FAM213B_uc021oex.1_Missense_Mutation_p.G13E|FAM213B_uc001ajw.2_Silent_p.G166G|FAM213B_uc001aju.2_Silent_p.G136G|FAM213B_uc010nzd.2_Missense_Mutation_p.G173E|FAM213B_uc010nze.2_Intron|FAM213B_uc010nzf.2_Intron|FAM213B_uc001ajx.2_Missense_Mutation_p.E20K	NM_001195736	NP_001182665	Q8TBF2	PGFS_HUMAN	Homo sapiens family with sequence similarity 213, member B (FAM213B), transcript variant 1, mRNA.	136					prostaglandin biosynthetic process	cytosol	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor										GCATCCAGGGGAACTTGTCTG	0.642000														19			130		0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27401879	27401879	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:27401879G>A	uc001mrj.4	-	9	1395	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	LGR4_uc001mrk.4_Missense_Mutation_p.R280C	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	304						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CTTGCACCACGAATGACTCTT	0.338000														83			21		0	0	1	0	0
WNT10B	7480	broad.mit.edu	37	12	49361857	49361857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49361857C>T	uc001rss.3	-	3	1027	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	WNT10B_uc001rst.3_Intron	NM_003394	NP_003385	O00744	WN10B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10B (WNT10B), mRNA.	195					Wnt receptor signaling pathway, calcium modulating pathway|axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CCACCCCATTCCCATGTGTCC	0.617000														42			10		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17752324	17752324	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:17752324G>A	uc021uqk.1	-	20	2553	c.2511C>T	c.(2509-2511)gtC>gtT	p.V837V		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	838					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGATCTTCACGACCCCATTGT	0.577000														34			25		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408158	105408158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:105408158C>T	uc010axc.1	-	6	13750	c.13630G>A	c.(13630-13632)Ggg>Agg	p.G4544R	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.G4444R	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4544						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCAGGTGCCCTTTGAGGCCG	0.632000														170			40		0	0	1	0	0
NECAB2	54550	broad.mit.edu	37	16	84028020	84028020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:84028020C>T	uc002fhd.3	+	6	727	c.710C>T	c.(709-711)cCa>cTa	p.P237L	NECAB2_uc002fhe.3_Missense_Mutation_p.P154L	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN	Homo sapiens N-terminal EF-hand calcium binding protein 2 (NECAB2), mRNA.	237					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						AAGACCCTTCCATCTGGTGAG	0.617000														13			8		0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60193833	60193833	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:60193833G>A	uc001xen.1	-	2	1778	c.1569C>T	c.(1567-1569)ctC>ctT	p.L523L	RTN1_uc001xem.1_Silent_p.L103L	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	523					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AGGGGTAGTCGAGGAAGGAAC	0.706000														17			4		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46823779	46823780	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:46823779_46823780CC>TT	uc002peh.3	+	8	1136_1137	c.1105_1106CC>TT	c.(1105-1107)ccc>TTc	p.P369F	HIF3A_uc002peg.4_Missense_Mutation_p.P369F|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.P313F|HIF3A_uc002pej.2_Missense_Mutation_p.P300F|HIF3A_uc010xxy.2_Missense_Mutation_p.P300F|HIF3A_uc002pel.3_Missense_Mutation_p.P367F|HIF3A_uc010xxz.2_Missense_Mutation_p.P318F	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GCGGGGCGCCCCCTCTCAGAAG	0.649000														56			37		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70226005	70226005	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:70226005G>A	uc001dep.3	+	0	148	c.118G>A	c.(118-120)Gag>Aag	p.E40K	LRRC7_uc001deo.1_Missense_Mutation_p.E78K|LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	40						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGTGCCAAAGGAGGTCTTTAA	0.418000														1			12		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28712647	28712647	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:28712647G>A	uc002kwn.3	-	13	2384	c.2122C>T	c.(2122-2124)Ctg>Ttg	p.L708L	DSC1_uc002kwm.3_Silent_p.L708L	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	708					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.L708L(3)		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)			CATGTAAACAGAATACCTAAA	0.303000														7			26		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157930989	157930989	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:157930989G>A	uc003wno.3	-	6	1250	c.1129C>T	c.(1129-1131)Cca>Tca	p.P377S	PTPRN2_uc003wnp.3_Missense_Mutation_p.P360S|PTPRN2_uc003wnq.3_Missense_Mutation_p.P377S|PTPRN2_uc003wnr.3_Missense_Mutation_p.P339S|PTPRN2_uc011kwa.2_Missense_Mutation_p.P400S	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	377						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CAGTCACCTGGAAAGCTGTCT	0.667000														14			13		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86010691	86010691	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:86010691G>A	uc003dql.3	+	6	843	c.843G>A	c.(841-843)agG>agA	p.R281R	CADM2_uc003dqj.3_Silent_p.R279R|CADM2_uc003dqk.3_Silent_p.R288R|CADM2_uc003dqm.2_Silent_p.R171R|CADM2_uc021xay.1_Silent_p.R171R|CADM2_uc021xaz.1_Silent_p.R171R|CADM2_uc021xba.1_Silent_p.R171R	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	279	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TGAGTGGTAGGGAGCTAAACA	0.433000														57			15		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131844238	131844238	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:131844238C>T	uc003vra.4	-	24	4883	c.4654G>A	c.(4654-4656)Gat>Aat	p.D1552N		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1552						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						TCACCCAGATCCATATCTGCA	0.557000														117			40		0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6428719	6428719	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:6428719G>A	uc002gdd.4	-	2	334	c.183C>T	c.(181-183)ctC>ctT	p.L61L	PITPNM3_uc010cln.3_Intron	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	61					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding	p.D60E(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TCTGCTCCACGAGGTCATTGG	0.557000														71			58		0	0	1	0	0
SCAMP1	9522	broad.mit.edu	37	5	77755108	77755108	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:77755108C>T	uc003kfl.3	+	8	929	c.772C>T	c.(772-774)Cct>Tct	p.P258S	SCAMP1_uc010jaa.3_Non-coding_Transcript|SCAMP1_uc011ctc.2_Non-coding_Transcript|SCAMP1_uc011ctd.2_Non-coding_Transcript|SCAMP1_uc003kfm.3_Non-coding_Transcript|SCAMP1_uc003kfn.3_5'UTR	NM_004866	NP_004857	O15126	SCAM1_HUMAN	Homo sapiens secretory carrier membrane protein 1 (SCAMP1), mRNA.	259					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding						all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		CCAAAATATTCCTGTTGGAAT	0.308000														5			12		0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46628211	46628211	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:46628211G>A	uc002inn.3	-	1	1181	c.781C>T	c.(781-783)Cca>Tca	p.P261S	HOXB3_uc010wlm.2_Missense_Mutation_p.P188S|HOXB3_uc010dbf.3_Missense_Mutation_p.P261S|HOXB3_uc010dbg.3_Missense_Mutation_p.P261S|HOXB3_uc002ino.3_Missense_Mutation_p.P261S|HOXB3_uc010wlk.2_Missense_Mutation_p.P129S|HOXB3_uc010wll.2_Missense_Mutation_p.P188S	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	261					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CTGCCGGCTGGAGATGGGCCC	0.647000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		112			32		0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73493869	73493869	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:73493869C>T	uc010wsa.2	+	25	3637	c.3445C>T	c.(3445-3447)Ctg>Ttg	p.L1149L	KIAA0195_uc002jnz.4_Silent_p.L1139L|KIAA0195_uc010wsb.2_Silent_p.L779L|KIAA0195_uc002job.4_Silent_p.L147L	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	1139					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGCATCTCTCTGCTGGGGAA	0.527000														27			30		0	0	1	0	0
MED25	81857	broad.mit.edu	37	19	50339161	50339161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:50339161G>A	uc002ppw.2	+	15	1987	c.1924G>A	c.(1924-1926)Gcc>Acc	p.A642T	MED25_uc010ybe.2_Missense_Mutation_p.A429T|MED25_uc002ppx.1_Missense_Mutation_p.A423T	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	Homo sapiens mediator complex subunit 25 (MED25), mRNA.	642	Interaction with RARA.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		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;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GAACCCTGGGGCCAACCCTCA	0.672000														36			6		0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16703368	16703368	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:16703368C>T	uc010cpj.1	+	18		c.4479C>T			USP32P1_uc010cpk.1_Non-coding_Transcript|USP32P1_uc010vwq.1_Non-coding_Transcript|USP32P1_uc002gqm.2_Non-coding_Transcript			A2RUR9	C144A_HUMAN	Homo sapiens ubiquitin specific peptidase 32 pseudogene 1 (USP32P1), non-coding RNA.																		AAGGGAGGCTCTGGCTGCCCC	0.517000														151			15		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26348357	26348357	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:26348357G>A	uc003abz.1	+	37	6188	c.5938G>A	c.(5938-5940)Gag>Aag	p.E1980K	MYO18B_uc003aca.1_Missense_Mutation_p.E1861K|MYO18B_uc010guy.1_Missense_Mutation_p.E1862K|MYO18B_uc010guz.1_Missense_Mutation_p.E1860K|MYO18B_uc011aka.1_Missense_Mutation_p.E1134K|MYO18B_uc011akb.1_Missense_Mutation_p.E1493K|MYO18B_uc010gva.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1980	Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAACAAGACAGAGTTCCAGAA	0.512000														11			7		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139904235	139904235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:139904235C>T	uc004ckm.1	-	42	6753	c.6703G>A	c.(6703-6705)Gcc>Acc	p.A2235T	ABCA2_uc022bpy.1_Missense_Mutation_p.A2136T|ABCA2_uc022bpz.1_Missense_Mutation_p.A2206T|ABCA2_uc011mem.1_Missense_Mutation_p.A2205T|ABCA2_uc004ckl.1_Missense_Mutation_p.A2136T|ABCA2_uc022bqa.1_5'Flank	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	2205	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AAGATGAAGGCTGGGTACCCA	0.642000														10			11		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62196116	62196116	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:62196116G>A	uc002yfm.2	-	8	4951	c.4059C>T	c.(4057-4059)ctC>ctT	p.L1353L	PRIC285_uc002yfl.1_Silent_p.L784L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1353					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GGGCATCATCGAGGTTGCAGG	0.657000														30			25		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186544688	186544688	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:186544688G>A	uc003iyg.3	-	12	2257	c.2225C>T	c.(2224-2226)tCc>tTc	p.S742F	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Missense_Mutation_p.S728F|SORBS2_uc003iyl.3_Missense_Mutation_p.S628F|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.S532F|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	628						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GGATGTGAAGGAAAAGTGATC	0.547000														33			17		0	0	1	0	0
TCERG1L	256536	broad.mit.edu	37	10	133107539	133107539	+	Silent	SNP	C	T	T	rs148480002		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:133107539C>T	uc001lkp.3	-	1	452	c.366G>A	c.(364-366)ccG>ccA	p.P122P		NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA.	122										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GTCCTAGGGACGGAGAATGGC	0.532000														26			27		0	0	1	0	0
MARS	4141	broad.mit.edu	37	12	57884323	57884324	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:57884323_57884324GG>AA	uc001sog.3	+	6	820_821	c.666_667GG>AA	c.(664-669)gaggag>gaAAag	p.E223K	ARHGAP9_uc001sod.3_5'Flank|ARHGAP9_uc001soe.1_5'Flank|MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Missense_Mutation_p.E96K|MARS_uc010srq.1_5'UTR	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	223					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CTTTATAGGAGGAGGAGCTGGC	0.535000														107			23		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155727095	155727095	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155727095T>G	uc001flz.2	-	25	5370	c.5273A>C	c.(5272-5274)cAg>cCg	p.Q1758P	GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Missense_Mutation_p.Q1758P|GON4L_uc009wrh.1_Missense_Mutation_p.Q1758P|GON4L_uc001fma.1_Missense_Mutation_p.Q1758P|GON4L_uc001fmb.4_Missense_Mutation_p.Q954P	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	1758	PAH 2.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTTGAGGAGCTGCCACATCTG	0.527000														86			33		0	0	1	0	0
SLC9A3R1	9368	broad.mit.edu	37	17	72764748	72764748	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:72764748C>T	uc002jlo.3	+	5	1253	c.1030C>T	c.(1030-1032)Ccg>Tcg	p.P344S		NM_004252	NP_004243	O14745	NHRF1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 (SLC9A3R1), mRNA.	344					Wnt receptor signaling pathway|apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of ERK1 and ERK2 cascade|negative regulation of cell proliferation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	PDZ domain binding|beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|phosphatase binding|protein self-association			large_intestine(4)	4						CAAACGGGCCCCGCAGATGGA	0.617000														82			18		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26692917	26692917	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:26692917C>T	uc003acb.3	+	3	1229	c.1033C>T	c.(1033-1035)Ctg>Ttg	p.L345L	SEZ6L_uc003acd.3_Silent_p.L345L|SEZ6L_uc011akd.2_Silent_p.L345L|SEZ6L_uc003ace.3_Silent_p.L345L|SEZ6L_uc011akc.2_Silent_p.L345L|SEZ6L_uc003acc.3_Silent_p.L345L|SEZ6L_uc003acf.1_Silent_p.L118L|SEZ6L_uc010gvc.1_Silent_p.L118L	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	345	CUB 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CGGCCCTACCCTGACCGTCCT	0.612000														27			11		0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11785885	11785885	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:11785885C>G	uc010buu.1	-	8	1304	c.1242G>C	c.(1240-1242)gaG>gaC	p.E414D	TXNDC11_uc002dbg.1_Missense_Mutation_p.E387D	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	Homo sapiens thioredoxin domain containing 11 (TXNDC11), mRNA.	414					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GAAGGAGACGCTCCACCACCT	0.612000														19			10		0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42168820	42168820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:42168820C>T	uc002xkn.1	+	12	1341	c.1210C>T	c.(1210-1212)Ctc>Ttc	p.L404F	L3MBTL1_uc010zwh.2_Missense_Mutation_p.L713F|L3MBTL1_uc002xkm.3_Missense_Mutation_p.L645F|L3MBTL1_uc010ggl.3_Missense_Mutation_p.L650F|L3MBTL1_uc002xkl.3_Missense_Mutation_p.L645F|L3MBTL1_uc002xko.3_Missense_Mutation_p.L297F|L3MBTL1_uc002xkp.3_Missense_Mutation_p.L33F|SGK2_uc002xkq.1_5'UTR	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA.	645					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	SAM domain binding|identical protein binding|methylated histone residue binding|nucleosomal histone binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GCACCAGTCCCTCTTCATGTC	0.622000														19			17		0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36558769	36558769	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:36558769C>T	uc002odd.2	+	6	830	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	WDR62_uc002odc.2_Silent_p.L247L|WDR62_uc002odb.2_Silent_p.L247L	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	247					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCGGGCATCCTGGGCGAGCT	0.627000														74			14		0	0	1	0	0
TRIM44	54765	broad.mit.edu	37	11	35747577	35747577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:35747577G>A	uc001mwi.2	+	2	1160	c.853G>A	c.(853-855)Gag>Aag	p.E285K		NM_017583	NP_060053	Q96DX7	TRI44_HUMAN	Homo sapiens tripartite motif containing 44 (TRIM44), mRNA.	285						intracellular	protein binding|zinc ion binding			endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				GGACATCCAAGAGGCAATGGC	0.463000														42			11		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10973741	10973741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:10973741C>T	uc003jfa.1	-	21	3647	c.3502G>A	c.(3502-3504)Gat>Aat	p.D1168N	CTNND2_uc010itt.2_Missense_Mutation_p.D1077N|CTNND2_uc011cmy.1_Missense_Mutation_p.D831N|CTNND2_uc011cmz.1_Missense_Mutation_p.D735N|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.D760N	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	1168					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AAGGACTCATCGTAATTTCTT	0.527000														24			59		0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113424969	113424969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:113424969G>A	uc001tuj.3	+	1	444	c.304G>A	c.(304-306)Ggg>Agg	p.G102R	OAS2_uc001tuh.3_Missense_Mutation_p.G102R|OAS2_uc001tui.1_Missense_Mutation_p.G102R	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	102	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CGATAAAACTGGGGATAAGCT	0.438000														54			15		0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27720136	27720136	+	Silent	SNP	C	T	T	rs151072917		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:27720136C>T	uc002dow.3	+	12	1524	c.1500C>T	c.(1498-1500)ttC>ttT	p.F500F	KIAA0556_uc002dox.1_Silent_p.F408F	NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	500										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AAGTCGAGTTCTTTGACTTGA	0.547000														48			18		0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106460735	106460735	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:106460735G>A	uc001tlj.1	-	6	3211	c.1831C>T	c.(1831-1833)Cag>Tag	p.Q611*		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	611							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TCAAAGTCCTGGATCTGGAGG	0.612000														24			19		0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150445246	150445246	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:150445246C>T	uc009wlr.3	+	10	4023	c.3822C>T	c.(3820-3822)ccC>ccT	p.P1274P	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.4_Silent_p.P1248P	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	1274	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTCCTCCTCCCCCTCCTGGGG	0.622000														85			28		0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107782406	107782406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:107782406C>T	uc003ymm.4	-	0	67	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	5					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	p.E5K(2)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTTTCCTTTTCGCCCGGAGCC	0.592000														43			25		0	0	1	0	0
ZNF772	400720	broad.mit.edu	37	19	57984885	57984885	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:57984885G>A	uc002qot.3	-	4	1488	c.1227C>T	c.(1225-1227)atC>atT	p.I409I	ZNF772_uc010ygy.2_Silent_p.I368I|ZNF772_uc010ygz.2_Silent_p.I297I|ZNF772_uc010yha.2_Silent_p.I355I|ZNF772_uc002qou.3_Silent_p.I297I	NM_001024596	NP_001019767	Q68DY9	ZN772_HUMAN	Homo sapiens zinc finger protein 772 (ZNF772), transcript variant 1, mRNA.	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		TCCCACATGCGATGCACTCAT	0.423000														71			15		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179589021	179589021	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179589021C>T	uc021vsy.1	-	68	17574	c.17349G>A	c.(17347-17349)ggG>ggA	p.G5783G	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.G2444G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6710	Ig-like 38.						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)			AGCTGCTTTTCCCAACATTAT	0.383000														24			16		0	0	1	0	0
TUSC3	7991	broad.mit.edu	37	8	15508299	15508299	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:15508299T>G	uc003wwt.3	+	2	746	c.402T>G	c.(400-402)gaT>gaG	p.D134E	TUSC3_uc003wwu.3_Missense_Mutation_p.D134E	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	134					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.D134V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TGGACTATGATGAGGGGACAG	0.358000														119			25		0	0	1	0	0
GBP2	2634	broad.mit.edu	37	1	89587621	89587622	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:89587621_89587622GG>AA	uc001dmz.1	-	1	299_300	c.28_29CC>TT	c.(28-30)cca>TTa	p.P10L	GBP2_uc001dmy.1_Non-coding_Transcript	NM_004120	NP_004111	P32456	GBP2_HUMAN	Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.	10					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.P10S(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GAGGCTCATTGGGCCCGGCAAG	0.485000														38			25		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16291899	16291899	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:16291899G>A	uc002den.4	-	9	1354	c.1317C>T	c.(1315-1317)gtC>gtT	p.V439V	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Silent_p.V451V	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	439	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		AGACGAAGCAGACCACGATCC	0.622000														17			3		0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37101563	37101563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:37101563G>A	uc002oek.3	+	3	264	c.151G>A	c.(151-153)Gct>Act	p.A51T	ZNF382_uc010efa.3_Missense_Mutation_p.A2T|ZNF382_uc010efb.3_Missense_Mutation_p.A50T|ZNF382_uc002oel.3_Missense_Mutation_p.A51T	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	Homo sapiens zinc finger protein 382 (ZNF382), mRNA.	51	KRAB.|Mediates interaction with TRIM28 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTTTCACATGGCTAAGCCTGA	0.373000														51			10		0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22574744	22574744	+	Silent	SNP	C	T	T	rs74170714		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:22574744C>T	uc002nqt.2	-	3	1415	c.1293G>A	c.(1291-1293)gaG>gaA	p.E431E		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TGTAGGGCTTCTCTCCAGTAT	0.378000														6			5		0	0	1	0	0
FOXO1	2308	broad.mit.edu	37	13	41133979	41133979	+	Missense_Mutation	SNP	G	A	A	rs149675484		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:41133979G>A	uc001uxl.4	-	1	2034	c.1649C>T	c.(1648-1650)tCg>tTg	p.S550L	FOXO1_uc010acc.1_Missense_Mutation_p.S365L	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	Homo sapiens forkhead box O1 (FOXO1), mRNA.	550					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	p.S550L(3)	PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GTTCATACCCGAGGTGTGGGG	0.612000														99			32		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	30902728	30902728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:30902728C>T	uc009yjk.1	-	24	3614	c.3545G>A	c.(3544-3546)gGa>gAa	p.G1182E	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.G841E|DCDC5_uc009yjj.2_Non-coding_Transcript	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	84					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						GAAACCATGTCCCATAGACAC	0.433000														49			12		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141736632	141736632	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141736632C>T	uc003vwy.3	+	17	2140	c.2086C>T	c.(2086-2088)Cct>Tct	p.P696S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	696	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGACCAGGATCCTGCCTCCTT	0.498000														140			36		0	0	1	0	0
SFTPA1	653509	broad.mit.edu	37	10	81373730	81373730	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:81373730G>A	uc009xry.3	+	5	735	c.653G>A	c.(652-654)gGg>gAg	p.G218E	SFTPA1_uc001kap.3_Missense_Mutation_p.G203E|SFTPA1_uc001kar.3_Missense_Mutation_p.G203E|SFTPA1_uc001kaq.3_Missense_Mutation_p.G203E|SFTPA1_uc001kao.3_Missense_Mutation_p.G169E|SFTPA1_uc021puu.1_Missense_Mutation_p.G154E|SFTPA1_uc010qlt.2_Missense_Mutation_p.G144E|SFTPA1_uc009xrz.3_Missense_Mutation_p.G133E	NM_001093770	NP_005402	Q8IWL2	SFTA1_HUMAN	Homo sapiens surfactant protein A1 (SFTPA1), transcript variant 2, mRNA.	203	C-type lectin.				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)			TACTCAGACGGGACCCCTGTA	0.547000														96			187		0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17279834	17279834	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:17279834G>A	uc010hev.3	-	17	1673	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F	TBC1D5_uc010heu.3_Missense_Mutation_p.S57F|TBC1D5_uc003cbf.3_Missense_Mutation_p.S470F|TBC1D5_uc003cbe.3_Missense_Mutation_p.S470F|TBC1D5_uc010hew.1_Missense_Mutation_p.S422F	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	470						intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CATTGCTGGGGAAATCAACTT	0.473000														22			12		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28852029	28852029	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:28852029G>A	uc002rmb.2	+	52	3839	c.3795G>A	c.(3793-3795)ggG>ggA	p.G1265G	PLB1_uc010ezj.2_Silent_p.G1254G|PLB1_uc002rme.2_Silent_p.G230G	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	1265	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)					GCCAAGGCGGGAAATGTGCCA	0.617000														85			8		0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8148274	8148274	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:8148274C>T	uc010rbm.1	-	4	740	c.686G>A	c.(685-687)gGa>gAa	p.G229E	RIC3_uc001mgb.2_Missense_Mutation_p.G39E|RIC3_uc010rbl.1_Missense_Mutation_p.G151E|RIC3_uc001mgd.2_Missense_Mutation_p.G201E|RIC3_uc001mgc.2_Missense_Mutation_p.G200E|RIC3_uc009yfm.2_Intron|RIC3_uc001mge.2_Intron|RIC3_uc009yfn.2_Missense_Mutation_p.G4E	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	201						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		AATGAATTTTCCTTCTTTCAT	0.433000														34			21		0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16139753	16139753	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:16139753C>T	uc010bvi.3	+	8	1276	c.1101C>T	c.(1099-1101)acC>acT	p.T367T	ABCC1_uc010bvj.3_Silent_p.T367T|ABCC1_uc010bvk.3_Silent_p.T367T|ABCC1_uc010bvl.3_Silent_p.T367T|ABCC1_uc010bvm.3_Silent_p.T367T|ABCC1_uc002del.4_Silent_p.T251T|ABCC1_uc010bvn.3_Silent_p.T230T	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	367	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ACTTCTACACCGTGCTGCTGT	0.547000											OREG0023639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			4		0	0	1	0	0
BARX2	8538	broad.mit.edu	37	11	129306719	129306719	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:129306719C>T	uc001qfc.4	+	1	311	c.261C>T	c.(259-261)gtC>gtT	p.V87V		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	87										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CCCACCTGGTCCCTGCCACCC	0.677000														67			26		0	0	1	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28333681	28333681	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:28333681C>T	uc010jrc.3	+	6	1569	c.1236C>T	c.(1234-1236)agC>agT	p.S412S	ZKSCAN3_uc003nle.4_Silent_p.S412S|ZKSCAN3_uc003nlf.4_Silent_p.S264S	NM_001242894	NP_001229823	Q9BRR0	ZKSC3_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), transcript variant 1, mRNA.	412					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AGAGCTGCAGCCTCCTTGAAC	0.507000														54			10		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508414	37508414	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:37508414G>A	uc021ppc.1	+	33	3705	c.3606G>A	c.(3604-3606)agG>agA	p.R1202R	ANKRD30A_uc001iza.1_Silent_p.R1202R	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1258						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGCTCAAAGGAAATCCAAAA	0.368000														27			10		0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974230	49974230	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:49974230G>A	uc010rhz.2	+	0	288	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TTCACTCTATGAAAACAAGAC	0.403000														128			46		0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36170244	36170244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:36170244C>T	uc003zzb.4	+	0	856	c.745C>T	c.(745-747)Cat>Tat	p.H249Y		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	249					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CACCTCATCCCATACAACCCT	0.522000														2			15		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77885818	77885818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:77885818G>A	uc003ugx.3	-	9	1743	c.1489C>T	c.(1489-1491)Cct>Tct	p.P497S	MAGI2_uc003ugy.3_Missense_Mutation_p.P497S|MAGI2_uc010ldx.1_Missense_Mutation_p.P106S|MAGI2_uc010ldy.1_Missense_Mutation_p.P106S|MAGI2_uc011kgr.1_Missense_Mutation_p.P329S|MAGI2_uc011kgs.1_Missense_Mutation_p.P334S	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	497	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGACCAATAGGAACAGACTGG	0.433000														16			23		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13721196	13721196	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:13721196C>T	uc003jfd.2	-	70	12234	c.12192G>A	c.(12190-12192)aaG>aaA	p.K4064K	DNAH5_uc003jfc.2_Silent_p.K232K	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4064	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G4063G(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)					TTTTTAATCTCTTCCCCAAGG	0.522000									Kartagener syndrome					92			23		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48760186	48760186	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:48760186G>A	uc001zwx.2	-	37	5091	c.4696C>T	c.(4696-4698)Ctg>Ttg	p.L1566L	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1566	TB 6.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCTTTACCCAGAGAACAGCAG	0.443000														74			14		0	0	1	0	0
SFTPB	6439	broad.mit.edu	37	2	85892729	85892729	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:85892729C>T	uc002sqj.3	-	6	718	c.618_splice	c.e6+1	p.Q206_splice	SFTPB_uc002sqi.3_Splice_Site_p.Q206_splice|SFTPB_uc002sqh.3_Splice_Site_p.Q206_splice	NM_000542	NP_942140	P07988	PSPB_HUMAN	Homo sapiens surfactant protein B (SFTPB), transcript variant 1, mRNA.	194	Saposin B-type 2.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						CCTCCCTCACCTGTGTGTGAG	0.677000														42			16		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70918266	70918266	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:70918266G>A	uc001swb.4	-	30	5986	c.5956C>T	c.(5956-5958)Cca>Tca	p.P1986S	BC031864_uc001svz.3_Intron|PTPRB_uc010sto.2_Missense_Mutation_p.P1896S|PTPRB_uc010stp.2_Missense_Mutation_p.P1896S|PTPRB_uc001swc.4_Missense_Mutation_p.P2204S|PTPRB_uc001swa.4_Missense_Mutation_p.P2116S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1986					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)			TGATACTCTGGATTCACATTT	0.428000														12			10		0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205129295	205129295	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:205129295G>A	uc001hbw.3	-	7	2116	c.2052C>T	c.(2050-2052)gtC>gtT	p.V684V	DSTYK_uc001hbx.3_Silent_p.V684V|DSTYK_uc001hby.1_Silent_p.V145V	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	684	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CATCTGGAGGGACAACTGATT	0.498000														126			68		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117896402	117896402	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:117896402G>A	uc003pxu.3	-	3	842	c.588C>T	c.(586-588)ctC>ctT	p.L196L	ROS1_uc003pxq.1_5'Flank|ROS1_uc003pxv.3_Silent_p.L188L	NM_020399	NP_065132	P08922	ROS_HUMAN	Homo sapiens golgi-associated PDZ and coiled-coil motif containing (GOPC), transcript variant 1, mRNA.	0	Fibronectin type-III 2.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTTCAGCCTGGAGAACAGCTA	0.398000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									19			18		0	0	1	0	0
C19orf75	284369	broad.mit.edu	37	19	51770765	51770765	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51770765T>G	uc002pwb.1	+	4	930	c.549T>G	c.(547-549)ttT>ttG	p.F183L	C19orf75_uc010eov.1_Non-coding_Transcript|C19orf75_uc010ycw.1_Missense_Mutation_p.F89L	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	183						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						TCGCCACATTTTCTGAGAGCC	0.453000														62			53		0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767323	105767323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:105767323G>A	uc004bbs.2	+	4	480	c.410G>A	c.(409-411)gGa>gAa	p.G137E		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	137	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TTAaaacaaggaaaaaaagat	0.328000														6			5		0	0	1	0	0
SLC35B2	347734	broad.mit.edu	37	6	44222583	44222583	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:44222583C>T	uc003oxd.3	-	3	1295	c.1159G>A	c.(1159-1161)Ggc>Agc	p.G387S	SLC35B2_uc011dvt.2_Missense_Mutation_p.G290S|SLC35B2_uc011dvu.2_Missense_Mutation_p.G254S|SLC35B2_uc021yzy.1_5'Flank	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	Homo sapiens solute carrier family 35, member B2 (SLC35B2), mRNA.	387					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACAGTGTGGCCATAGAGAAGG	0.582000														69			8		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999883	46999883	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:46999883G>A	uc001jec.3	+	2	1138	c.1003G>A	c.(1003-1005)Gct>Act	p.A335T	GPRIN2_uc021ppt.1_Missense_Mutation_p.A335T	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	335										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGCCCAGGATGCTGGTGTGCA	0.632000														61			24		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48701285	48701285	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:48701285G>A	uc002irk.1	+	35	6450	c.6078G>A	c.(6076-6078)acG>acA	p.T2026T	CACNA1G_uc002irj.1_Silent_p.T1899T|CACNA1G_uc002irl.1_Silent_p.T1910T|CACNA1G_uc002irm.1_Silent_p.T1947T|CACNA1G_uc002irn.1_Silent_p.T1892T|CACNA1G_uc002iro.1_Silent_p.T1899T|CACNA1G_uc002irp.1_Silent_p.T1981T|CACNA1G_uc002irq.1_Silent_p.T2003T|CACNA1G_uc002irr.1_Silent_p.T1933T|CACNA1G_uc002irs.1_Silent_p.T1970T|CACNA1G_uc002irt.1_Silent_p.T1915T|CACNA1G_uc002iru.1_Silent_p.T1992T|CACNA1G_uc002irv.1_Silent_p.T1922T|CACNA1G_uc002irw.1_Silent_p.T1955T|CACNA1G_uc002irx.1_Silent_p.T1846T|CACNA1G_uc002iry.1_Silent_p.T1835T|CACNA1G_uc002isg.1_Silent_p.T1794T|CACNA1G_uc002ish.1_Silent_p.T1801T|CACNA1G_uc002isi.1_Silent_p.T1789T|CACNA1G_uc002irz.1_Silent_p.T1839T|CACNA1G_uc002isa.1_Silent_p.T1812T|CACNA1G_uc002isd.1_Silent_p.T1821T|CACNA1G_uc002isb.1_Silent_p.T1853T|CACNA1G_uc002isc.1_Silent_p.T1928T|CACNA1G_uc002ise.1_Silent_p.T1849T|CACNA1G_uc002isf.1_Silent_p.T1876T	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	2026					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCACCCCACGGAGCTGCCAG	0.592000														21			19		0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919272	51919272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51919272C>T	uc002pwo.3	-	4	1126	c.904G>A	c.(904-906)Ggc>Agc	p.G302S	SIGLEC10_uc002pwp.3_Missense_Mutation_p.G244S|SIGLEC10_uc021uyl.1_Missense_Mutation_p.G219S|SIGLEC10_uc002pwq.3_Missense_Mutation_p.G244S|SIGLEC10_uc010ycz.2_Missense_Mutation_p.G254S|SIGLEC10_uc002pws.2_Intron|SIGLEC10_uc002pwr.3_Missense_Mutation_p.G302S|SIGLEC10_uc010ycy.2_Intron|SIGLEC10_uc010eow.3_Missense_Mutation_p.G114S|LOC100129083_uc021uym.1_Non-coding_Transcript	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	302	Ig-like C2-type 2.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGTCTAGGGCCCCAGGGATGG	0.677000														37			7		0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94915035	94915035	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:94915035C>T	uc001ydd.1	-	1	137	c.77G>A	c.(76-78)gGa>gAa	p.G26E		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	26					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		ACTTTTATCTCCATGGGCAAG	0.552000														100			59		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9050067	9050067	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9050067C>T	uc002mkp.3	-	4	31768	c.31564G>A	c.(31564-31566)Gaa>Aaa	p.E10522K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10524	Thr-rich.			L -> P (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E10522K(1)|p.E6155K(1)		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						ATCATCATTTCTGTGGGGATT	0.507000														286			116		0	0	1	0	0
RIN1	9610	broad.mit.edu	37	11	66100171	66100171	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:66100171G>A	uc001ohn.1	-	9	2055	c.1928C>T	c.(1927-1929)aCc>aTc	p.T643I	RIN1_uc010roy.1_Missense_Mutation_p.T274I|RIN1_uc009yrd.1_Missense_Mutation_p.T336I|RIN1_uc010roz.1_Missense_Mutation_p.T538I|RIN1_uc010rpa.1_Missense_Mutation_p.T477I	NM_004292	NP_004283	Q13671	RIN1_HUMAN	Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA.	643	Ras and 14-3-3 protein binding region.|Ras-associating.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CACGGCCAGGGTCTTGGAGGT	0.592000														82			32		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10404792	10404792	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10404792C>T	uc002gmo.3	-	26	3467	c.3373G>A	c.(3373-3375)Gaa>Aaa	p.E1125K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1125						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.E1124*(1)		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						GCCTCGATTTCCTCCTCCAGC	0.542000														13			33		0	0	1	0	0
SPDYC	387778	broad.mit.edu	37	11	64938924	64938924	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:64938924C>T	uc010rnz.2	+	1	153	c.153C>T	c.(151-153)ctC>ctT	p.L51L		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	Homo sapiens speedy homolog C (Xenopus laevis) (SPDYC), mRNA.	51					cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						ATGGGTTCCTCCGTTTTCGCC	0.617000														26			14		0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187455095	187455095	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:187455095C>T	uc002upq.3	+	0	306	c.30C>T	c.(28-30)cgC>cgT	p.R10R	ITGAV_uc010frs.3_Silent_p.R10R	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	10					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	p.R10C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACGGCTGCGCCTCGGTCCCC	0.716000														22			6		0	0	1	0	0
TMED10P1	286102	broad.mit.edu	37	8	146220446	146220446	+	Missense_Mutation	SNP	G	A	A	rs4489360	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:146220446G>A	uc003zey.3	+	0	196	c.175G>A	c.(175-177)Gag>Aag	p.E59K	ZNF252P_uc003zew.4_Intron|ZNF252P_uc011llo.2_Intron					Homo sapiens transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 1 (TMED10P1), non-coding RNA.																		TGGCACATACGAGATCTCTGA	0.502000														8			4		0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48919680	48919680	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:48919680G>A	uc010slu.2	+	0	266	c.266G>A	c.(265-267)aGg>aAg	p.R89K		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CTGTCACAGAGGAAAACCATT	0.502000														59			19		0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20586399	20586399	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20586399G>A	uc001vwo.1	+	0	834	c.834G>A	c.(832-834)gtG>gtA	p.V278V		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TCACAGTGGTGATTCTCTTCT	0.443000														40			29		0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160277270	160277270	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:160277270C>T	uc003iqg.4	+	22	4744	c.4434C>T	c.(4432-4434)ctC>ctT	p.L1478L		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	1478					MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ACCCGCGCCTCGCCCCCTATC	0.532000														43			12		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2942398	2942398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:2942398G>A	uc003bpc.3	+	10	1309	c.970G>A	c.(970-972)Gat>Aat	p.D324N	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.D324N|CNTN4_uc003bpd.1_Missense_Mutation_p.D324N|CNTN4_uc003bpe.3_5'UTR|CNTN4_uc003bpf.3_5'UTR	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	324	Ig-like C2-type 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAAAATAAATGATATTCACGT	0.353000														49			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067148	9067148	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9067148C>T	uc002mkp.3	-	2	20502	c.20298G>A	c.(20296-20298)tcG>tcA	p.S6766S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6768	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S6766S(3)|p.S6766L(1)|p.S2399S(1)		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						GAGTCGCCATCGAGTGTGTTC	0.483000														143			58		0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75407221	75407221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:75407221C>T	uc004aiz.1	+	16	2059	c.1519C>T	c.(1519-1521)Cct>Tct	p.P507S	TMC1_uc010moz.1_Missense_Mutation_p.P465S|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.P361S|TMC1_uc010mpa.1_Missense_Mutation_p.P361S	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	507					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TTTTGTTCACCCTGCAGATGT	0.438000														18			80		0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	139995980	139995980	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:139995980C>T	uc004cld.2	+	7	1145	c.1110C>T	c.(1108-1110)tcC>tcT	p.S370S	MAN1B1_uc004clc.2_Silent_p.S271S|MAN1B1_uc011meo.1_Silent_p.S271S|MAN1B1_uc011mep.2_Silent_p.S370S|MAN1B1_uc010ncc.2_Non-coding_Transcript|MAN1B1_uc004clf.1_5'Flank	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	Homo sapiens mannosidase, alpha, class 1B, member 1 (MAN1B1), transcript variant 1, mRNA.	370					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		GAACACCATCCAAGATTCCTT	0.547000														12			13		0	0	1	0	0
OR6B2	389090	broad.mit.edu	37	2	240969754	240969754	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:240969754G>A	uc010zoc.2	-	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F	OR6B2_uc002vyr.3_Silent_p.F31F	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		AGGTGAGCAGGAAGAGGAGGA	0.587000														96			11		0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146351039	146351039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:146351039C>T	uc010khw.1	+	1	856	c.386C>T	c.(385-387)tCc>tTc	p.S129F	GRM1_uc010khu.1_Missense_Mutation_p.S129F|GRM1_uc010khv.1_Missense_Mutation_p.S129F|GRM1_uc003qll.2_Missense_Mutation_p.S129F|GRM1_uc011edz.1_Missense_Mutation_p.S129F|GRM1_uc011eea.1_Missense_Mutation_p.S129F	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	129					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TCTCTGATTTCCATTCGAGAT	0.582000														23			16		0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62385095	62385095	+	Missense_Mutation	SNP	C	T	T	rs147103435		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:62385095C>T	uc003dll.2	-	29	4408	c.4048G>A	c.(4048-4050)Gaa>Aaa	p.E1350K	CADPS_uc003dlj.1_Missense_Mutation_p.E305K|CADPS_uc003dlk.1_Missense_Mutation_p.E798K|CADPS_uc003dlm.2_Missense_Mutation_p.E1311K|CADPS_uc003dln.2_Missense_Mutation_p.E1271K|CADPS_uc021wzv.1_Missense_Mutation_p.E1341K	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1350	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.E1350K(2)|p.E1311K(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCGTCTTCTTCGTCTTCCTCA	0.498000														72			19		0	0	1	0	0
UBA3	9039	broad.mit.edu	37	3	69112140	69112140	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:69112140G>A	uc003dno.3	-	8	706	c.686C>T	c.(685-687)cCa>cTa	p.P229L	UBA3_uc003dnq.3_Missense_Mutation_p.P215L|UBA3_uc011bfy.2_Missense_Mutation_p.P52L|UBA3_uc011bfz.2_Missense_Mutation_p.P52L	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 3 (UBA3), transcript variant 1, mRNA.	229	Interaction with NEDD8.				protein neddylation|proteolysis	nucleus	ATP binding|acid-amino acid ligase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		TACCTGTGGTGGATAAAGTTC	0.388000														54			20		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3141789	3141789	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:3141789G>A	uc022aqr.1	-	25	4420	c.4030C>T	c.(4030-4032)Ctg>Ttg	p.L1344L	CSMD1_uc011kwj.2_Silent_p.L737L|CSMD1_uc003wqe.3_Silent_p.L501L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1345	CUB 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCTTCAGCAGGATGTCACTG	0.557000											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			9		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457590	110457590	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:110457590C>T	uc003yne.3	+	37	5596	c.5492C>T	c.(5491-5493)cCc>cTc	p.P1831L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1831	IPT/TIG 11.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTCAGCAGCCCCCCAGTAGCA	0.498000										HNSCC(38;0.096)				14			26		0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38144719	38144719	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:38144719G>C	uc001uwo.4	-	18	2385	c.2267C>G	c.(2266-2268)aCa>aGa	p.T756R	POSTN_uc010tet.2_Missense_Mutation_p.T257R|POSTN_uc001uwp.4_Missense_Mutation_p.T699R|POSTN_uc001uwr.3_Missense_Mutation_p.T729R|POSTN_uc001uwq.3_Missense_Mutation_p.T699R|POSTN_uc010teu.1_Missense_Mutation_p.T729R|POSTN_uc010tev.1_Intron|POSTN_uc010tew.1_Intron	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	756					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ATGGCTACCTGTAATGATTCG	0.323000														22			29		0	0	1	0	0
TMEM45B	120224	broad.mit.edu	37	11	129727269	129727269	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:129727269A>G	uc001qfe.1	+	4	693	c.632A>G	c.(631-633)aAc>aGc	p.N211S	TMEM45B_uc001qff.1_Missense_Mutation_p.N211S	NM_138788	NP_620143	Q96B21	TM45B_HUMAN	Homo sapiens transmembrane protein 45B (TMEM45B), mRNA.	211						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		GATGATGCCAACCTCATGTTC	0.498000														9			36		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56363573	56363573	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56363573C>A	uc002qmd.4	+	1	549	c.127C>A	c.(127-129)Ccc>Acc	p.P43T		NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	43	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CAAGCAGATTCCCTGGACTGA	0.413000														43			37		1.836e-18	1.85576e-18	1	1	0
TCRB	0	broad.mit.edu	37	7	142099598	142099598	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142099598G>A	uc003vyz.1	-	1	204	c.204C>T	c.(202-204)ttC>ttT	p.F68F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Silent_p.F68F					SubName: Full=Uncharacterized protein;																		CTTCATTCTGGAAATAAGTCA	0.522000														43			12		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69324055	69324055	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:69324055G>A	uc002ars.2	+	3	564	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.E129K|NOX5_uc002arp.2_Missense_Mutation_p.E157K|NOX5_uc010bid.2_Missense_Mutation_p.E140K|NOX5_uc010bie.2_5'UTR|NOX5_uc002arr.2_Missense_Mutation_p.E147K|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	175	EF-hand 4.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GGCGCTCTTCGAATCGGCCGA	0.652000														23			11		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975264	20975264	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:20975264G>A	uc010vbe.2	-	52	9942	c.9942C>T	c.(9940-9942)atC>atT	p.I3314I	DNAH3_uc010vbd.2_Silent_p.I749I	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3314					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)		ACATCGGCTCGATGTTGGCCA	0.507000														58			18		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209799204	209799204	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:209799204C>T	uc001hhg.3	-	12	2155	c.1765G>A	c.(1765-1767)Gat>Aat	p.D589N	LAMB3_uc009xco.3_Missense_Mutation_p.D589N|LAMB3_uc001hhh.3_Missense_Mutation_p.D589N|LAMB3_uc010psl.1_Intron|MIR4260_uc021pil.1_5'Flank	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	589	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGGTCCGCATCATAGGTCTGG	0.682000														38			14		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107911653	107911653	+	Missense_Mutation	SNP	C	T	T	rs104886393		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:107911653C>T	uc022ccg.1	+	40	3911	c.3709C>T	c.(3709-3711)Cca>Tca	p.P1237S	COL4A5_uc004enz.1_Missense_Mutation_p.P1237S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1237	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCAGGGTCCCCCAGGCCCTCC	0.602000									Alport syndrome with Diffuse Leiomyomatosis					4			19		0	0	1	0	0
CLEC1A	51267	broad.mit.edu	37	12	10233922	10233922	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:10233922G>A	uc001qxb.3	-	2	389	c.305C>T	c.(304-306)tCt>tTt	p.S102F	CLEC1A_uc001qxd.3_Missense_Mutation_p.S59F|CLEC1A_uc010sgx.2_Intron	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA.	102					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GACTTGAAGAGATTGCAACTC	0.423000														52			22		0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153719773	153719773	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:153719773G>A	uc009wom.3	+	5	672	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	INTS3_uc001fct.3_Missense_Mutation_p.E151K|INTS3_uc001fcu.3_5'UTR|INTS3_uc001fcv.3_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	151					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTTGGTACGGGAACTGGTGAA	0.453000														62			16		0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770617	31770617	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:31770617C>T	uc002nsy.4	-	1	147	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	28					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A28T(1)|p.A28V(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCTAAACCTTCGTCCACCAGG	0.562000														52			24		0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134182771	134182771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:134182771C>T	uc009zdf.3	+	14	1850	c.1490C>T	c.(1489-1491)cCt>cTt	p.P497L	GLB1L3_uc001qho.4_Non-coding_Transcript	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	497					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CTGCACATTCCTGAACTCAGG	0.517000														5			8		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433458	140433458	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140433458G>A	uc003lik.1	+	0	2480	c.2403G>A	c.(2401-2403)agG>agA	p.R801R		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	801					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D800E(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTCTGATAGGAATAAGTCTC	0.438000														28			52		0	0	1	0	0
SRD5A2	6716	broad.mit.edu	37	2	31754406	31754406	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:31754406G>A	uc002rnw.1	-	4	737	c.666C>T	c.(664-666)ttC>ttT	p.F222F		NM_000348	NP_000339	P31213	S5A2_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) (SRD5A2), mRNA.	223					androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GCAGCCCAAGGAAACAAAGTG	0.473000														36			11		0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53097124	53097124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:53097124G>A	uc001saw.3	-	0	124	c.95C>T	c.(94-96)cCg>cTg	p.P32L	KRT77_uc009zmi.3_5'UTR	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	32	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						ACCCACTGCCGGACTCCCACC	0.537000														2			30		0	0	1	0	0
MAPKAP1	79109	broad.mit.edu	37	9	128434603	128434603	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:128434603G>A	uc004bpv.3	-	1	584	c.251C>T	c.(250-252)tCa>tTa	p.S84L	MAPKAP1_uc004bpw.3_Intron|MAPKAP1_uc004bpx.3_Intron|MAPKAP1_uc004bpy.3_Missense_Mutation_p.S84L|MAPKAP1_uc004bpz.3_Missense_Mutation_p.S84L|MAPKAP1_uc010mxa.3_Non-coding_Transcript|MAPKAP1_uc004bqa.3_Missense_Mutation_p.S84L	NM_001006617	NP_001006622	Q9BPZ7	SIN1_HUMAN	Homo sapiens mitogen-activated protein kinase associated protein 1 (MAPKAP1), transcript variant 1, mRNA.	84	Interaction with MAP3K2.			WDFGIRRRSNT -> ADPARSVEAAS (in Ref. 9; AAA36551).	T cell costimulation|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						ACCTGTGTTTGAGCGTCTTCT	0.403000														17			7		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41727125	41727125	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:41727125C>T	uc010ehj.3	+	2	573	c.383C>T	c.(382-384)tCc>tTc	p.S128F	AXL_uc010ehi.1_Missense_Mutation_p.S128F|AXL_uc010ehk.3_Missense_Mutation_p.S128F	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	128	Ig-like C2-type 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						ACCTTCGTGTCCCAGCCTGGC	0.577000														47			13		0	0	1	0	0
GLDN	342035	broad.mit.edu	37	15	51687033	51687033	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:51687033G>A	uc002aba.3	+	5	711	c.542_splice	c.e5-1	p.G181_splice	GLDN_uc002abb.3_Splice_Site_p.G57_splice	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	Homo sapiens gliomedin (GLDN), mRNA.	181	Collagen-like 1.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TTTGGTCAGGGATACCTGGAG	0.493000														44			10		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61835987	61835987	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:61835987G>A	uc001jky.3	-	36	4990	c.4652C>T	c.(4651-4653)tCc>tTc	p.S1551F	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.	1551	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			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						GCCTAATGTGGATTTGATTGG	0.418000														83			28		0	0	1	0	0
WDR82	80335	broad.mit.edu	37	3	52293735	52293735	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:52293735C>A	uc003ddl.2	-	5	979	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W	WDR82_uc003ddk.2_Missense_Mutation_p.G158W	NM_025222	NP_079498	Q6UXN9	WDR82_HUMAN	Homo sapiens WD repeat domain 82 (WDR82), mRNA.	233					histone H3-K4 methylation	PTW/PP1 phosphatase complex|Set1C/COMPASS complex|chromatin	protein binding								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		CAGCTCACCCCAAATGTGTGC	0.448000														237			5		0.217242	0.217242	1	1	0
SPOCK2	9806	broad.mit.edu	37	10	73822590	73822590	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:73822590C>T	uc001jso.2	-	10	1648	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	ANAPC16_uc021psn.1_Intron|SPOCK2_uc001jsp.3_Silent_p.E401E	NM_001244950	NP_001231879	Q92563	TICN2_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 (SPOCK2), transcript variant 3, mRNA.	401	Glu-rich.				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						cgcctgcttcctccgtctcct	0.672000														12			9		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76456268	76456268	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:76456268C>T	uc010dhp.2	-	58	9536	c.9411G>A	c.(9409-9411)caG>caA	p.Q3137Q	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCAGAGCCTCCTGGGCTGCCA	0.577000														12			7		0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91456115	91456115	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:91456115C>T	uc010bnz.2	+	16	2593	c.2478C>T	c.(2476-2478)gtC>gtT	p.V826V	MAN2A2_uc002bqc.3_Silent_p.V826V|MAN2A2_uc010uql.2_Silent_p.V488V|MAN2A2_uc010uqm.2_Silent_p.V405V|MAN2A2_uc010uqn.1_Non-coding_Transcript	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	826					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			AGCCCTACGTCCCCAAGGAGC	0.567000														281			171		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111155590	111155590	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:111155590C>T	uc004epl.1	-	2	1748	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K	TRPC5_uc004epm.1_Missense_Mutation_p.E277K	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	277					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCAAGCTCTTCACTGTGGTCA	0.522000														58			43		0	0	1	0	0
GC	2638	broad.mit.edu	37	4	72635064	72635064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:72635064C>T	uc010iif.3	-	2	264	c.169G>A	c.(169-171)Gag>Aag	p.E57K	GC_uc003hge.3_Missense_Mutation_p.E38K|GC_uc021xpb.1_Missense_Mutation_p.E38K	NM_001204307	NP_001191236	P02774	VTDB_HUMAN	Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA.	38	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GTGAAGTCCTCCTTTCCCAGA	0.428000														28			17		0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11224057	11224057	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:11224057C>T	uc002mqk.4	+	8	1477	c.1290C>T	c.(1288-1290)gtC>gtT	p.V430V	LDLR_uc010xlk.2_Silent_p.V430V|LDLR_uc010xll.2_Silent_p.V389V|LDLR_uc021upc.1_Silent_p.V309V|LDLR_uc010xln.2_Silent_p.V303V|LDLR_uc010xlo.2_Silent_p.V262V|LDLR_uc010xlm.2_Silent_p.V283V|LDLR_uc021upd.1_Silent_p.V167V	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	430					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.V430A(1)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GGAACGTGGTCGCTCTGGACA	0.607000														149			130		0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30122033	30122033	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:30122033C>T	uc003npo.3	-	6	1235	c.1159G>A	c.(1159-1161)Gat>Aat	p.D387N	TRIM10_uc003npn.2_Intron	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	387	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						CGCTGCACATCCTCGCTCACC	0.672000														29			8		0	0	1	0	0
SLC2A6	11182	broad.mit.edu	37	9	136341396	136341396	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:136341396G>A	uc004cee.3	-	3	620	c.525C>T	c.(523-525)ctC>ctT	p.L175L	SLC2A6_uc004cef.3_Silent_p.L175L|SLC2A6_uc004ceg.3_Silent_p.L175L|SLC2A6_uc011mdj.1_Silent_p.L175L	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 6 (SLC2A6), transcript variant 1, mRNA.	175						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		ACACTGCCATGAGCTGGGGTG	0.632000														2			28		0	0	1	0	0
APC	324	broad.mit.edu	37	5	112178722	112178722	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:112178722C>T	uc003kpz.4	+	16	7624	c.7431C>T	c.(7429-7431)tcC>tcT	p.S2477S	APC_uc011cvt.2_Silent_p.S2459S|APC_uc003kpy.4_Silent_p.S2477S|APC_uc010jbz.3_Silent_p.S2194S|APC_uc010jca.3_Silent_p.S1777S	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	2477	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CCACTAGGTCCCAGGCACAAA	0.458000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				43			15		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	199556	199556	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrGL000192.1:199556G>A	uc010yii.1	-	6	1085	c.864C>T	c.(862-864)atC>atT	p.I288I	HYDIN_uc010yih.1_Non-coding_Transcript			Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.	1986										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTGGAAAATGATTTTTTCCA	0.428000														32			26		0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42824580	42824580	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:42824580G>A	uc010goq.3	+	13	1888	c.1542G>A	c.(1540-1542)gaG>gaA	p.E514E	MX1_uc002yzh.3_Silent_p.E514E|MX1_uc002yzi.3_Silent_p.E514E	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	514					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CAGAACAAGAGAGAGAAGGTG	0.433000														82			22		0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128628127	128628127	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:128628127C>T	uc010sbu.2	+	1	479	c.136C>T	c.(136-138)Cac>Tac	p.H46Y	FLI1_uc010sbt.2_5'UTR|FLI1_uc010sbv.2_Missense_Mutation_p.H13Y|FLI1_uc009zci.3_5'UTR|FLI1_uc001qen.3_Missense_Mutation_p.H13Y	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	46					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CGGGCAGCCCCACAAGATCAA	0.602000			T	EWSR1	Ewing sarcoma									0			9		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6833594	6833594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:6833594G>A	uc002mfu.1	+	16	1763	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K	VAV1_uc010xjh.1_Missense_Mutation_p.E524K|VAV1_uc010dva.1_Missense_Mutation_p.E556K|VAV1_uc002mfv.1_Missense_Mutation_p.E501K	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	556					T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TGCACACAAGGAGTGTCTGGG	0.572000														50			47		0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102955	22102955	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:22102955T>C	uc010tmc.2	-	0	44	c.44A>G	c.(43-45)gAt>gGt	p.D15G		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AAGAATGAAATCTGTCACCAC	0.463000														69			76		0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823975	47823975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:47823975C>T	uc002pgj.1	+	1	990	c.941C>T	c.(940-942)tCc>tTc	p.S314F		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	314					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CTGCGGAAATCCCTCCCCAGC	0.592000														79			25		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49670875	49670875	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:49670875C>T	uc002efs.3	-	4	2486	c.2188G>A	c.(2188-2190)Gac>Aac	p.D730N	ZNF423_uc010vgn.2_Missense_Mutation_p.D613N	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	730					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.F729F(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ACCTTGGAGTCGAAGACCTCC	0.567000														18			16		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29012450	29012450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:29012450C>T	uc001usb.3	-	3	706	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	FLT1_uc010aar.1_Missense_Mutation_p.E141K|FLT1_uc001usc.3_Missense_Mutation_p.E141K|FLT1_uc010tdp.1_Missense_Mutation_p.E141K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	141					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TCGGGGATTTCACTGTACATC	0.373000														12			6		0	0	1	0	0
TBX3	6926	broad.mit.edu	37	12	115112504	115112504	+	Silent	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:115112504G>T	uc001tvt.1	-	6	2200	c.1236C>A	c.(1234-1236)gtC>gtA	p.V412V	TBX3_uc001tvu.1_Silent_p.V392V	NM_016569	NP_057653	O15119	TBX3_HUMAN	Homo sapiens T-box 3 (TBX3), transcript variant 2, mRNA.	412					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GGTGAGCCTTGACCGCGGGGC	0.692000														23			6		2.0095e-06	2.0159e-06	1	1	0
CACNA1D	776	broad.mit.edu	37	3	53844083	53844083	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:53844083C>T	uc003dgv.4	+	46	6113	c.5950C>T	c.(5950-5952)Cct>Tct	p.P1984S	CACNA1D_uc003dgu.4_Missense_Mutation_p.P2004S|CACNA1D_uc003dgy.4_Missense_Mutation_p.P1960S|CACNA1D_uc003dgw.4_Missense_Mutation_p.P1651S|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1984					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GTGGGCCACCCCTCCAGCAAC	0.617000														52			15		0	0	1	0	0
SLC9A7	84679	broad.mit.edu	37	X	46529114	46529114	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:46529114C>T	uc004dgu.1	-	4	729	c.721G>A	c.(721-723)Gga>Aga	p.G241R	SLC9A7_uc004dgv.1_Missense_Mutation_p.G241R	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA.	241					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GAGAGCTGTCCCATAATCTTC	0.373000														13			8		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56487560	56487560	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56487560A>T	uc002qmh.3	+	7	2838	c.2767A>T	c.(2767-2769)Aat>Tat	p.N923Y	NLRP8_uc010etg.3_Missense_Mutation_p.N904Y	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	923						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCTCTGTAAAAATAAAACCCT	0.408000														36			40		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169825938	169825938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:169825938C>T	uc002ueo.1	-	15	2059	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K	ABCB11_uc010zda.1_Missense_Mutation_p.E87K|ABCB11_uc010zdb.1_Missense_Mutation_p.E121K	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	645	ABC transporter 1.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CCTTTCCTTTCCAGTAATTCT	0.438000														14			8		0	0	1	0	0
METTL11A	28989	broad.mit.edu	37	9	132396539	132396539	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:132396539C>T	uc004byd.1	+	2	563	c.369C>T	c.(367-369)acC>acT	p.T123T	METTL11A_uc011mbs.1_Intron|METTL11A_uc010myw.1_Intron	NM_014064	NP_054783	Q9BV86	NTM1A_HUMAN	Homo sapiens methyltransferase like 11A (METTL11A), mRNA.	123					N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|chromosome segregation|spindle organization	nucleus	protein binding|protein methyltransferase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	7						AGGACTTCACCCCGGAGCCGG	0.587000														29			24		0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214171386	214171387	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:214171386_214171387CC>TT	uc001hkh.3	+	1	1780_1781	c.1508_1509CC>TT	c.(1507-1509)tcc>tTT	p.S503F	PROX1_uc001hkg.1_Missense_Mutation_p.S503F	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	503					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	p.G502G(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCCTCCGGCTCCTTCTCTGGAA	0.564000														77			52		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67748510	67748510	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:67748510C>T	uc009xpn.1	-	15	2328	c.2205G>A	c.(2203-2205)gcG>gcA	p.A735A	CTNNA3_uc001jmw.2_Silent_p.A735A	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	735					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.A735A(3)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ATATCATTTTCGCTGCATAGA	0.378000														64			30		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712496	121712496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:121712496C>T	uc003ees.3	-	6	1303	c.1100G>A	c.(1099-1101)gGg>gAg	p.G367E	ILDR1_uc003eeq.3_Missense_Mutation_p.G335E|ILDR1_uc003eer.3_Missense_Mutation_p.G323E|ILDR1_uc010hrg.3_Missense_Mutation_p.G278E	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	367						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GTGGCTTCTCCCCTCCCTCAG	0.592000														29			23		0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54263408	54263408	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:54263408C>T	uc004dtc.2	-	19	5030	c.4591G>A	c.(4591-4593)Gag>Aag	p.E1531K	WNK3_uc004dtd.2_Missense_Mutation_p.E1484K	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	1484					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTCAAGTCCTCATCCTCTATT	0.408000														11			84		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786421	121786421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:121786421G>A	uc003ksw.1	+	9	2085	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K	SNCAIP_uc011cwl.1_Missense_Mutation_p.E185K|SNCAIP_uc003ksy.1_Missense_Mutation_p.E261K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E674K|SNCAIP_uc003ksz.1_Missense_Mutation_p.E261K|SNCAIP_uc010jcu.2_Missense_Mutation_p.E223K|SNCAIP_uc011cwm.1_Missense_Mutation_p.E261K|SNCAIP_uc003kta.1_Missense_Mutation_p.E259K|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.E321K|SNCAIP_uc010jcx.1_Missense_Mutation_p.E567K|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.E143K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	627					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		ATTGGGAAAGGAAATCTCAGA	0.458000														16			24		0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3030272	3030272	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:3030272G>A	uc002fvc.1	-	0	574	c.574C>T	c.(574-576)Ccc>Tcc	p.P192S		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						TTGGTGAAGGGGTCTGTGCAG	0.493000														65			78		0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67223192	67223192	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:67223192C>T	uc001olo.3	+	0	375	c.298C>T	c.(298-300)Cgt>Tgt	p.R100C	GPR152_uc001olm.3_5'Flank|CABP4_uc001oln.3_5'UTR	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	100					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCACCGACATCGTCCTGACTC	0.677000														15			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060190	9060190	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9060190G>A	uc002mkp.3	-	2	27460	c.27256C>T	c.(27256-27258)Cct>Tct	p.P9086S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9088	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAGCCCCAGGAGAACCTGTT	0.463000														62			33		0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880239	26880239	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:26880239G>A	uc001ist.3	+	2		c.474_splice	c.e2-1							Homo sapiens long intergenic non-protein coding RNA 264 (LINC00264), non-coding RNA.																		TCCCTCTCAGGACCTATAAAA	0.423000														21			14		0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99362128	99362128	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:99362128C>T	uc001vno.3	-	11	1015	c.938G>A	c.(937-939)gGg>gAg	p.G313E		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	313					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	TACGATTTTCCCGGACATAGT	0.373000														27			34		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54801929	54801929	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:54801929C>G	uc001sga.3	-	6	850	c.782G>C	c.(781-783)cGc>cCc	p.R261P	ITGA5_uc010sow.1_Non-coding_Transcript|ITGA5_uc009znp.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	261					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			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						ACTGGCCTGGCGAGTCTGCAG	0.562000														47			31		0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6015474	6015474	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:6015474G>A	uc003zjr.3	-	0	167	c.134C>T	c.(133-135)cCa>cTa	p.P45L	RANBP6_uc011lmf.2_Missense_Mutation_p.P45L|RANBP6_uc003zjs.3_Missense_Mutation_p.P45L	NM_012416	NP_036548	O60518	RNBP6_HUMAN	Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.	45					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ACACAGACCTGGGATATTTTC	0.468000														38			24		0	0	1	0	0
HSPA13	6782	broad.mit.edu	37	21	15753598	15753598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:15753598C>T	uc002yjt.3	-	1	361	c.292G>A	c.(292-294)Gat>Aat	p.D98N	HSPA13_uc011abx.2_5'UTR	NM_006948	NP_008879	P48723	HSP13_HUMAN	Homo sapiens heat shock protein 70kDa family, member 13 (HSPA13), mRNA.	98						endoplasmic reticulum|microsome	ATP binding	p.D98N(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CTTTTGGCATCATATATTGTG	0.368000														63			12		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279701	47279701	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:47279701C>T	uc001cqn.4	+	5	825	c.741C>T	c.(739-741)ttC>ttT	p.F247F	CYP4B1_uc009vyl.1_Silent_p.F83F|CYP4B1_uc001cqm.4_Silent_p.F246F|CYP4B1_uc009vym.3_Silent_p.F232F|CYP4B1_uc010omk.2_Silent_p.F83F|CYP4B1_uc010oml.1_Silent_p.F84F	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	246					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GCCGCCGCTTCCTGCGGGCCT	0.597000														40			20		0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510608	5510608	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5510608C>T	uc010qzg.2	+	0	694	c.672C>T	c.(670-672)atC>atT	p.I224I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I224T(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGCTTTATCCTCCATGCAG	0.488000														139			43		0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10386378	10386378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:10386378C>T	uc001aqx.4	+	26	3087	c.2885C>T	c.(2884-2886)cCg>cTg	p.P962L	KIF1B_uc001aqw.4_Missense_Mutation_p.P916L|KIF1B_uc001aqy.3_Missense_Mutation_p.P936L|KIF1B_uc001aqz.3_Missense_Mutation_p.P962L|KIF1B_uc001ara.3_Missense_Mutation_p.P922L|KIF1B_uc001arb.3_Missense_Mutation_p.P948L	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	962					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.P916R(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GGGCATGACCCGTTTTACGAC	0.532000														8			79		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1079242	1079242	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:1079242C>T	uc002qwq.3	+	1	240	c.111C>T	c.(109-111)tcC>tcT	p.S37S	SNTG2_uc002qwp.3_Non-coding_Transcript|SNTG2_uc010ewi.3_Silent_p.S37S	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	37					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		ATGAAGAGTCCGAAAATGCCT	0.493000														114			19		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160798372	160798372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:160798372G>A	uc002ube.2	-	29	4521	c.4309C>T	c.(4309-4311)Cct>Tct	p.P1437S	PLA2R1_uc010zcp.2_Missense_Mutation_p.P1435S	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	1437					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GGATAGTAAGGATTCCGAAAC	0.388000														9			14		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212812235	212812235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:212812235C>T	uc002veg.1	-	2	439	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	ERBB4_uc002veh.1_Missense_Mutation_p.R114Q|ERBB4_uc010zji.1_Missense_Mutation_p.R114Q|ERBB4_uc010zjj.1_Missense_Mutation_p.R114Q|ERBB4_uc010fut.1_Missense_Mutation_p.R114Q	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	114					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.R114*(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAAGGCATATCGATCCTCATA	0.378000										TSP Lung(8;0.080)				25			12		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534320	92534320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:92534320C>T	uc001pdj.4	+	8	8158	c.8141C>T	c.(8140-8142)tCc>tTc	p.S2714F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2714	Cadherin 25.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTCAGTATTCCTTTACCATT	0.498000										TCGA Ovarian(4;0.039)				589			161		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327691	57327691	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:57327691G>A	uc002qnu.2	-	6	2470	c.2119C>T	c.(2119-2121)Cat>Tat	p.H707Y	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.H678Y|PEG3_uc002qnv.2_Missense_Mutation_p.H707Y|PEG3_uc002qnw.2_Missense_Mutation_p.H583Y|PEG3_uc002qnx.2_Missense_Mutation_p.H581Y|PEG3_uc010etr.2_Missense_Mutation_p.H707Y	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	707					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTCGAGAATGAATTTTCTGA	0.433000														28			25		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225588	21225588	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:21225588G>A	uc002red.3	-	28	12834	c.12706C>T	c.(12706-12708)Cat>Tat	p.H4236Y		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4236					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAACCATTATGGACTTTCGAA	0.408000														194			519		0	0	1	0	0
WNT5B	81029	broad.mit.edu	37	12	1741960	1741960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:1741960G>A	uc009zdq.3	+	2	459	c.217G>A	c.(217-219)Ggg>Agg	p.G73R	WNT5B_uc001qjj.3_Missense_Mutation_p.G73R|WNT5B_uc001qjk.3_Missense_Mutation_p.G73R|WNT5B_uc001qjl.3_Missense_Mutation_p.G73R	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA.	73				G -> R (in Ref. 1; AAG38659).	Wnt receptor signaling pathway, calcium modulating pathway|angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GGCCTACATAGGGGAGGGAGC	0.597000														111			4		0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118986927	118986927	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:118986927C>T	uc001pvn.3	+	13	2444	c.2085C>T	c.(2083-2085)tcC>tcT	p.S695S	C2CD2L_uc001pvo.3_Silent_p.S694S	NM_014807	NP_055622	O14523	C2C2L_HUMAN	Homo sapiens C2CD2-like (C2CD2L), mRNA.	694						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCTTCAAATCCAAACCCAAGG	0.577000														4			17		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826784	46826784	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:46826784C>T	uc003oyo.3	-	16	3145	c.2856G>A	c.(2854-2856)acG>acA	p.T952T	GPR116_uc011dwj.1_Silent_p.T507T|GPR116_uc011dwk.1_Silent_p.T381T|GPR116_uc003oyp.3_Silent_p.T810T|GPR116_uc003oyq.3_Silent_p.T952T|GPR116_uc010jzi.1_Silent_p.T624T	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	952	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T952A(2)|p.T952M(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGACACACTTCGTTTCGCCGC	0.483000														90			16		0	0	1	0	0
C17orf53	78995	broad.mit.edu	37	17	42226357	42226357	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:42226357C>T	uc002ifi.2	+	2	1423	c.1186C>T	c.(1186-1188)Cgc>Tgc	p.R396C	C17orf53_uc010czq.2_Missense_Mutation_p.R396C|C17orf53_uc002ifj.2_Missense_Mutation_p.R396C|C17orf53_uc002ifk.1_Non-coding_Transcript	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	Homo sapiens chromosome 17 open reading frame 53 (C17orf53), transcript variant 1, mRNA.	396										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGCCAAAACTCGCCGTTTCCC	0.612000														58			14		0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52090935	52090935	+	Missense_Mutation	SNP	G	A	A	rs144001773		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52090935G>A	uc002pxb.3	+	4	1729	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K		NM_007147	NP_009078	Q9Y473	ZN175_HUMAN	Homo sapiens zinc finger protein 175 (ZNF175), mRNA.	451					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		TGTGTGTATCGAATGCGGGCA	0.488000														29			8		0	0	1	0	0
ZIK1	284307	broad.mit.edu	37	19	58102135	58102135	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58102135G>A	uc002qpg.3	+	3	1053	c.956G>A	c.(955-957)gGa>gAa	p.G319E	ZIK1_uc002qph.3_Missense_Mutation_p.G264E|ZIK1_uc002qpi.3_Missense_Mutation_p.G306E|ZIK1_uc002qpj.3_Missense_Mutation_p.G216E	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	Homo sapiens zinc finger protein interacting with K protein 1 homolog (mouse) (ZIK1), mRNA.	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATACACACTGGAGCAAGGCCT	0.453000														39			16		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347200	48347200	+	Silent	SNP	C	T	T	rs141730559		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:48347200C>T	uc010rhv.2	+	0	708	c.708C>T	c.(706-708)ttC>ttT	p.F236F		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGTTGAACTTCCTCATGCTGG	0.522000														40			4		0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114402005	114402005	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:114402005G>A	uc001eds.3	-	1	295	c.165C>T	c.(163-165)atC>atT	p.I55I	LOC100287722_uc001edv.1_Intron|PTPN22_uc021orx.1_Silent_p.I55I|PTPN22_uc009wgq.3_Silent_p.I55I|PTPN22_uc021ory.1_Silent_p.I55I|PTPN22_uc010owo.2_5'UTR|PTPN22_uc001edt.3_Silent_p.I55I|PTPN22_uc009wgr.2_Silent_p.I55I|PTPN22_uc009wgs.2_Silent_p.I55I|PTPN22_uc001edu.2_Silent_p.I55I	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	55	Tyrosine-protein phosphatase.				T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTTTTTCTTGATATTCTTGG	0.358000														12			69		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56330287	56330287	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:56330287G>A	uc021wzo.1	-	1	974	c.834C>T	c.(832-834)ttC>ttT	p.F278F	ERC2_uc003dhr.1_Silent_p.F278F	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	278						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCCTCAAAAGGAACAGCTCCT	0.493000														102			185		0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233802629	233802629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:233802629C>T	uc010pxo.1	+	1	812	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	215						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TTCCTGGAATCCTTTTATTTT	0.488000														52			34		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42697295	42697295	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:42697295T>A	uc010ggo.3	+	8	1530	c.1490T>A	c.(1489-1491)cTc>cAc	p.L497H	TOX2_uc002xle.4_Missense_Mutation_p.L455H|TOX2_uc010ggp.3_Missense_Mutation_p.L455H|TOX2_uc002xlf.4_Missense_Mutation_p.L479H|TOX2_uc010zwk.2_Missense_Mutation_p.L375H	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CACAGCCTGCTCCCCAGGGAC	0.642000														28			23		0	0	1	0	0
HS6ST2	90161	broad.mit.edu	37	X	131762736	131762736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:131762736C>T	uc011mvd.1	-	5	1869	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K	HS6ST2_uc011mvb.1_Missense_Mutation_p.E339K|HS6ST2_uc011mvc.1_Missense_Mutation_p.E299K|HS6ST2_uc011mve.1_Missense_Mutation_p.E445K|HS6ST2_uc011mva.1_Missense_Mutation_p.E171K	NM_001077188	NP_001070656	Q96MM7	H6ST2_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 2 (HS6ST2), transcript variant L, mRNA.	445						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					AAGGTTTTCTCAAACAGATAT	0.423000														38			29		0	0	1	0	0
ACTR1B	10120	broad.mit.edu	37	2	98275434	98275434	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:98275434G>A	uc002syb.2	-	4	556	c.348C>T	c.(346-348)aaC>aaT	p.N116N		NM_005735	NP_005726	P42025	ACTY_HUMAN	Homo sapiens ARP1 actin-related protein 1 homolog B, centractin beta (yeast) (ACTR1B), mRNA.	116						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						TCTTACTCGGGTTGAGCGGGG	0.587000														96			78		0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187447775	187447775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:187447775G>A	uc003frp.3	-	4	875	c.418C>T	c.(418-420)Cgt>Tgt	p.R140C	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.R140C|BCL6_uc010hza.2_Missense_Mutation_p.R38C|BCL6_uc003frq.2_Missense_Mutation_p.R140C	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	140					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AACTCTTCACGAGGAGGCTTG	0.522000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""									54			20		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262210	140262210	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140262210G>A	uc003lif.2	+	0	357	c.357G>A	c.(355-357)gtG>gtA	p.V119V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.V119V|PCDHAC2_uc003lid.3_Silent_p.V119V	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	134	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCCATGTGGAGGTGAAGG	0.537000														118			39		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82451976	82451976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:82451976G>A	uc003uhx.2	-	19	14915	c.14626C>T	c.(14626-14628)Cat>Tat	p.H4876Y	PCLO_uc003uhv.2_Missense_Mutation_p.H4876Y|PCLO_uc003uht.1_Missense_Mutation_p.H318Y|PCLO_uc003uhu.1_Missense_Mutation_p.H297Y	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4738					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						GGACTACTATGGGATTTCTCA	0.458000														138			142		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064763	7064763	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:7064763C>T	uc001mfb.1	+	3	1829	c.1506C>T	c.(1504-1506)aaC>aaT	p.N502N		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	502					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAGCTGGGAACCCTTCCTGCC	0.418000														73			15		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45401769	45401769	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:45401769G>A	uc001zun.3	-	10	1390	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F	DUOX2_uc010bea.3_Missense_Mutation_p.S396F	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	396	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CGAAATCTGGGAGGCCATTCC	0.522000														133			13		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48371159	48371159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:48371159G>A	uc001rqu.3	-	45	3398	c.3217C>T	c.(3217-3219)Cct>Tct	p.P1073S	COL2A1_uc001rqt.3_5'Flank|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.P1004S	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	1073	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGGGAGCCAGGGGGCCCAGGG	0.597000														66			26		0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	192818516	192818516	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:192818516C>T	uc002utc.3	-	8	1311	c.917G>A	c.(916-918)aGt>aAt	p.S306N		NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA.	306	Required for shedding.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			GTATAGAACACTGTAGTCCTT	0.428000														13			40		0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56950085	56950085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:56950085C>T	uc001njl.2	+	0	865	c.718C>T	c.(718-720)Ccc>Tcc	p.P240S		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	210	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CGGTGGCAATCCCTGGGTGTG	0.632000														66			43		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995859	140995859	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:140995859C>T	uc004fbt.3	+	3	2993	c.2669C>T	c.(2668-2670)tCc>tTc	p.S890F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S549F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	890							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAGTGATTCCTTGACAGAC	0.478000										HNSCC(15;0.026)				83			109		0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36595303	36595303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:36595303C>T	uc021qgb.1	+	0	449	c.449C>T	c.(448-450)tCc>tTc	p.S150F	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.S150F	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	150	Interaction with importin alpha-1.				T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AGAGCTACTTCCTGGCCGGAC	0.493000									Familial Hemophagocytic Lymphohistiocytosis					49			20		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540518	28540518	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:28540518G>A	uc003nlo.3	-	3	3766	c.3148C>T	c.(3148-3150)Cat>Tat	p.H1050Y		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1050					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						agttgcttatgatcagcttcc	0.303000														34			42		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197446918	197446918	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:197446918G>A	uc001gtz.3	+	11	4339	c.4130G>A	c.(4129-4131)gGa>gAa	p.G1377E	CRB1_uc010poz.2_Missense_Mutation_p.G1353E|CRB1_uc009wza.3_Missense_Mutation_p.G1265E|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.G841E|CRB1_uc010ppd.2_Missense_Mutation_p.G858E	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1377					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.Q1376Q(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GCAACTCAGGGAACCTACAGC	0.517000														72			18		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43606806	43606806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:43606806C>T	uc001jal.3	+	6	1605	c.1415C>T	c.(1414-1416)gCc>gTc	p.A472V	RET_uc001jak.1_Missense_Mutation_p.A472V|RET_uc010qez.1_Missense_Mutation_p.A218V	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	472					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GACACCAAGGCCCTGCGGCGG	0.612000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					77			17		0	0	1	0	0
MS4A1	931	broad.mit.edu	37	11	60229883	60229883	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:60229883C>T	uc009yna.3	+	1	363	c.36C>T	c.(34-36)ttC>ttT	p.F12F	MS4A1_uc009ymy.1_Silent_p.F12F|MS4A1_uc009ymz.3_Silent_p.F12F|MS4A1_uc010rlc.2_Silent_p.F12F|MS4A1_uc001npp.3_Silent_p.F12F|MS4A1_uc001npq.3_Silent_p.F12F	NM_152866	NP_690605	P11836	CD20_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA.	12					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	ATGGGACTTTCCCGGCAGAGC	0.423000														29			33		0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53014261	53014261	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53014261G>A	uc002pzp.4	+	5	871	c.627G>A	c.(625-627)ggG>ggA	p.G209G		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATAACTATGGGAATAATTTTT	0.358000														66			18		0	0	1	0	0
ZNF273	10793	broad.mit.edu	37	7	64388279	64388279	+	Silent	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:64388279A>G	uc003tto.3	+	3	649	c.573A>G	c.(571-573)tcA>tcG	p.S191S	ZNF273_uc003ttl.3_Silent_p.S126S|ZNF273_uc003ttn.3_Silent_p.S126S	NM_021148	NP_066971	Q14593	ZN273_HUMAN	Homo sapiens zinc finger protein 273 (ZNF273), transcript variant 1, mRNA.	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				ATAAATTCTCAAATTCAAATA	0.303000														35			32		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28654727	28654727	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:28654727G>A	uc002kwl.4	-	11	2264	c.1810C>T	c.(1810-1812)Cat>Tat	p.H604Y	DSC2_uc002kwk.4_Missense_Mutation_p.H604Y	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	604	Cadherin 5.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GGTGGGCCATGGATAGGCTCA	0.413000														22			5		0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20357123	20357123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:20357123C>T	uc001iqg.1	+	3	1133	c.496C>T	c.(496-498)Cca>Tca	p.P166S	PLXDC2_uc001iqh.1_Missense_Mutation_p.P117S	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	166						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CTTCGATTTTCCATTTTATGG	0.393000														39			9		0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43494147	43494147	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:43494147G>A	uc001zrb.4	-	11	2198	c.1898C>T	c.(1897-1899)cCc>cTc	p.P633L	EPB42_uc001zqz.4_Missense_Mutation_p.P270L|EPB42_uc001zra.4_Missense_Mutation_p.P603L|EPB42_uc010udm.2_Missense_Mutation_p.P525L	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	603					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-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;8.7e-07)		GGCTGTGAGGGGTTGATACTG	0.577000														60			20		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152471012	152471012	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:152471012G>A	uc021vrb.1	-	71	10679	c.10650C>T	c.(10648-10650)atC>atT	p.I3550I	NEB_uc002txu.3_Silent_p.I3793I|NEB_uc021vrc.1_Silent_p.I3793I|NEB_uc010fnx.3_Silent_p.I3538I|NEB_uc021vrd.1_Silent_p.I3550I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3550					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGCCACATGGATGGACCACA	0.507000														103			34		0	0	1	0	0
CASC3	22794	broad.mit.edu	37	17	38324145	38324145	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:38324145C>T	uc010cwt.1	+	9	1989	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V	CASC3_uc002hue.3_Missense_Mutation_p.A565V	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	565	Necessary for localization in cytoplasmic stress granules.				RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GACAGCCCTGCCCCGCTGCCT	0.512000														105			80		0	0	1	0	0
TAF9B	51616	broad.mit.edu	37	X	77394419	77394419	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:77394419C>T	uc004eda.3	-	1	125	c.54G>A	c.(52-54)gtG>gtA	p.V18V		NM_015975	NP_057059	Q9HBM6	TAF9B_HUMAN	Homo sapiens TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa (TAF9B), mRNA.	18					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						TCTGTGCCATCACCTGTGGAT	0.378000														22			23		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542465	179542465	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179542465G>A	uc021vsy.1	-	142	30667	c.30442C>T	c.(30442-30444)Cca>Tca	p.P10148S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6809S|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11075	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G10147V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTCAGGTGGAATTTCCTCT	0.438000														56			28		0	0	1	0	0
RPSAP52	204010	broad.mit.edu	37	12	66152025	66152025	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:66152025C>T	uc001sso.3	-	1	919	c.498G>A	c.(496-498)caG>caA	p.Q166Q						Homo sapiens ribosomal protein SA pseudogene 52 (RPSAP52), non-coding RNA.																		CAGAGGGCACCTGCATGCCTT	0.522000														13			6		0	0	1	0	0
SOX3	6658	broad.mit.edu	37	X	139585906	139585906	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:139585906C>T	uc004fbd.1	-	0	1320	c.1320G>A	c.(1318-1320)acG>acA	p.T440T		NM_005634	NP_005625	P41225	SOX3_HUMAN	Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA.	440					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					TCAGCGGCACCGTTCCGTTGA	0.741000														8			5		0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88853866	88853866	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:88853866C>T	uc010kbz.3	-	1	1258	c.1128G>A	c.(1126-1128)aaG>aaA	p.K376K	CNR1_uc011dzr.2_Silent_p.K376K|CNR1_uc011dzs.2_Silent_p.K376K|CNR1_uc003pmq.4_Silent_p.K376K|CNR1_uc011dzt.2_Silent_p.K376K|CNR1_uc010kca.3_Silent_p.K343K|CNR1_uc021zco.1_Silent_p.K376K	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	376					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CAAACACCGTCTTAATGAGCT	0.517000														20			9		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537569	55537569	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:55537569G>A	uc003xsd.1	+	3	1275	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	376					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)			ACAGAAAGTCGATCATCTGGT	0.413000														17			17		0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19491679	19491679	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:19491679G>A	uc003cbk.1	+	8	1652	c.1457G>A	c.(1456-1458)aGa>aAa	p.R486K	KCNH8_uc011awe.1_Missense_Mutation_p.R486K|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_Missense_Mutation_p.R145K	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	486						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TATCACACTAGAACTAAGGAT	0.443000														43			14		0	0	1	0	0
RBM22	55696	broad.mit.edu	37	5	150072457	150072457	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:150072457C>T	uc003lst.3	-	10	1254	c.1132_splice	c.e10+1	p.G378_splice		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	Homo sapiens RNA binding motif protein 22 (RBM22), mRNA.	378	Pro-rich.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	RNA binding|calcium-dependent protein binding|nucleotide binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAAGTTACCTGGGGGTGGG	0.517000														95			30		0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26919945	26919945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:26919945G>A	uc002hbq.3	-	2	409	c.317C>T	c.(316-318)cCc>cTc	p.P106L	SPAG5_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	106					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GCTAATTTGGGGAATTGGATC	0.443000														138			31		0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184542543	184542543	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:184542543G>T	uc021xik.1	+	0	211	c.123G>T	c.(121-123)atG>atT	p.M41I	VPS8_uc003fpb.1_Missense_Mutation_p.M41I|VPS8_uc010hyd.1_Missense_Mutation_p.M41I|VPS8_uc003fpc.1_Missense_Mutation_p.M41I	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	41							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ACATAGATATGGACAAGGAAC	0.368000														6			22		2.89027e-11	2.91093e-11	1	1	0
TNXB	7148	broad.mit.edu	37	6	32036905	32036905	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:32036905C>T	uc003nzl.2	-	15	5798	c.5596G>A	c.(5596-5598)Gaa>Aaa	p.E1866K		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1948	Fibronectin type-III 11.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCGTTTCTTCCCTGCCGGCT	0.627000														316			85		0	0	1	0	0
ADPRHL2	54936	broad.mit.edu	37	1	36557677	36557678	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:36557677_36557678CC>TT	uc001bzt.3	+	3	736_737	c.683_684CC>TT	c.(682-684)tcc>tTT	p.S228F		NM_017825	NP_060295	Q9NX46	ARHL2_HUMAN	Homo sapiens ADP-ribosylhydrolase like 2 (ADPRHL2), nuclear gene encoding mitochondrial protein, mRNA.	228						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				GATGCCCAGTCCGTCTTGGATG	0.604000														2			17		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634416	70634416	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:70634416G>A	uc001xly.3	-	1	1478	c.724C>T	c.(724-726)Cca>Tca	p.P242S	SLC8A3_uc001xlw.3_Missense_Mutation_p.P242S|SLC8A3_uc001xlx.3_Missense_Mutation_p.P242S|SLC8A3_uc001xlz.3_Missense_Mutation_p.P242S|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	242					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)		ACACACACTGGAAAGAAGAAG	0.478000														39			18		0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115783293	115783293	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:115783293G>A	uc003krx.4	-	19	2869	c.2160C>T	c.(2158-2160)acC>acT	p.T720T	SEMA6A_uc010jck.3_Silent_p.T703T|SEMA6A_uc011cwe.2_Silent_p.T82T|SEMA6A_uc003krv.4_Silent_p.T130T|SEMA6A_uc003krw.4_Silent_p.T180T|SEMA6A_uc010jcj.3_Silent_p.T247T	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	703					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CGCTGAGCTTGGTGACGCTGC	0.622000														55			36		0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064408	78064408	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:78064408C>T	uc002ffh.4	+	2	345	c.264C>T	c.(262-264)ttC>ttT	p.F88F	CLEC3A_uc021tlr.1_Silent_p.F36F	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	88	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						TGAAGCATTTCCATGAGGCCA	0.448000														7			33		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236902628	236902629	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:236902628_236902629CC>TT	uc001hyf.2	+	9	1107_1108	c.903_904CC>TT	c.(901-906)atcccc>atTTcc	p.P302S	ACTN2_uc001hyg.2_Missense_Mutation_p.P94S|ACTN2_uc009xgi.1_Missense_Mutation_p.P302S|ACTN2_uc010pxu.1_Intron	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	302					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GTCGCACGATCCCCTGGCTGGA	0.535000														79			51		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94897975	94897975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:94897975G>A	uc003unp.3	+	11	2995	c.2713G>A	c.(2713-2715)Gat>Aat	p.D905N	PPP1R9A_uc010lfj.3_Missense_Mutation_p.D927N|PPP1R9A_uc011kif.2_Missense_Mutation_p.D905N|PPP1R9A_uc003unq.3_Missense_Mutation_p.D905N|PPP1R9A_uc011kig.2_Missense_Mutation_p.D905N|PPP1R9A_uc003unr.3_5'UTR	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	905	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAGACTGTATGATAGTGTTAG	0.483000										HNSCC(28;0.073)				51			35		0	0	1	0	0
EZH1	2145	broad.mit.edu	37	17	40858135	40858135	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:40858135C>T	uc010wgu.2	-	14	1783	c.1747G>A	c.(1747-1749)Gca>Aca	p.A583T	EZH1_uc002iaz.3_Missense_Mutation_p.A577T|EZH1_uc002iba.3_Missense_Mutation_p.A568T|EZH1_uc010wgt.2_Missense_Mutation_p.A507T|EZH1_uc010wgv.2_Missense_Mutation_p.A537T|EZH1_uc010wgw.2_Missense_Mutation_p.A438T|EZH1_uc010cyp.2_Missense_Mutation_p.A478T|EZH1_uc010cyq.2_Missense_Mutation_p.A494T|EZH1_uc010cyo.1_Missense_Mutation_p.A240T	NM_001991	NP_001982	Q92800	EZH1_HUMAN	Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA.	577	Cys-rich.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|chromatin binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TCTCGCACTGCCAGATAGCAA	0.537000														67			24		0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47939103	47939103	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:47939103G>T	uc003gxu.3	-	9	1756	c.1615C>A	c.(1615-1617)Cac>Aac	p.H539N	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.H470N	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	470					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						GTGTCTAAGTGAACGTTGATG	0.398000														68			33		1.22384e-17	1.23607e-17	1	1	0
KIF2B	84643	broad.mit.edu	37	17	51901615	51901615	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:51901615G>A	uc002iua.2	+	0	1377	c.1221G>A	c.(1219-1221)ggG>ggA	p.G407G	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	407	Kinesin-motor.				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			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						TGGAAATAGGGAATAGCTGTC	0.517000														37			16		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39230591	39230591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:39230591C>T	uc003cjk.2	-	1	575	c.346G>A	c.(346-348)Gag>Aag	p.E116K	XIRP1_uc003cji.3_Missense_Mutation_p.E116K|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.E116K	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	116							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGCACGGGCTCCTTGGCAGCT	0.607000														56			24		0	0	1	0	0
RPSA	3921	broad.mit.edu	37	19	24010564	24010564	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:24010564C>T	uc002nrn.3	+	3	1024	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	201					cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		CATGCCTGATCTGTACTTCTA	0.527000														11			7		0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68844210	68844210	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:68844210C>T	uc002ewg.1	+	5	922	c.798C>T	c.(796-798)gtC>gtT	p.V266V	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Silent_p.V266V	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	266	Cadherin 2.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(4)|p.F262_E265>L(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CCCAGGAGGTCTTTAAGGGGT	0.458000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer					9			54		0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184910279	184910279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:184910279C>T	uc003fpf.3	-	6	1983	c.1907G>A	c.(1906-1908)gGa>gAa	p.G636E	EHHADH_uc011brs.2_Missense_Mutation_p.G540E	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA.	636						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TATCCCTTCTCCCAAGATACG	0.453000														74			17		0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104618511	104618511	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:104618511G>A	uc001yos.4	+	2	448	c.448G>A	c.(448-450)Gag>Aag	p.E150K		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	150					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGCCAGCCATGAGGACCTTGA	0.711000														6			5		0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42294623	42294623	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:42294623G>A	uc003xpe.3	-	7	1776	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D	SLC20A2_uc010lxl.3_Silent_p.D469D|SLC20A2_uc010lxm.3_Silent_p.D469D|SLC20A2_uc011lcu.2_Silent_p.D271D	NM_006749	NP_006740	Q08357	S20A2_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 2 (SLC20A2), mRNA.	469					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CCTCTGCAGGGTCCTCTCGCG	0.647000														43			12		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	382592	382592	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:382592G>A	uc003bot.3	+	5	1143	c.501G>A	c.(499-501)atG>atA	p.M167I	CHL1_uc003bou.3_Missense_Mutation_p.M167I|CHL1_uc003bow.2_Missense_Mutation_p.M167I|CHL1_uc011asi.2_Missense_Mutation_p.M167I	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	167	Ig-like C2-type 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTTATTGGATGAATATTGGTA	0.368000														26			17		0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154147202	154147202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:154147202G>A	uc003faa.3	-	0	303	c.203C>T	c.(202-204)tCc>tTc	p.S68F		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	68						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CACAAGCATGGACACAACAGT	0.468000														61			28		0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112042916	112042916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:112042916G>A	uc001ebh.4	-	1	1380	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Intron	NM_000677	NP_000668	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA.	205					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	AGTTTGTTCCGAATGATGTAA	0.428000														2			26		0	0	1	0	0
ZNF182	7569	broad.mit.edu	37	X	47836032	47836032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:47836032G>A	uc004dir.3	-	6	1800	c.1454C>T	c.(1453-1455)cCt>cTt	p.P485L	ZNF182_uc004dis.3_Missense_Mutation_p.P466L|ZNF182_uc004dit.3_Missense_Mutation_p.P485L	NM_006962	NP_008893	P17025	ZN182_HUMAN	Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA.	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						GCACTCGTAAGGTTTCTCTCC	0.368000														19			18		0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160268102	160268102	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:160268102C>T	uc003iqg.4	+	18	3491	c.3181C>T	c.(3181-3183)Ctt>Ttt	p.L1061F		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	1061					MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CGCCGTGTCCCTTTATCCTTC	0.502000														50			76		0	0	1	0	0
ACP2	53	broad.mit.edu	37	11	47264356	47264356	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:47264356C>T	uc001nei.3	-	9	1173	c.1056G>A	c.(1054-1056)caG>caA	p.Q352Q	ACP2_uc010rhe.2_Silent_p.Q324Q|ACP2_uc009ylj.3_Silent_p.Q280Q|ACP2_uc010rhf.2_Silent_p.Q320Q|ACP2_uc010rhg.2_Silent_p.Q289Q|ACP2_uc010rhh.2_Silent_p.Q165Q|ACP2_uc009ylk.2_Silent_p.Q319Q|ACP2_uc010rhi.1_Silent_p.Q165Q	NM_001610	NP_001601	P11117	PPAL_HUMAN	Homo sapiens acid phosphatase 2, lysosomal (ACP2), transcript variant 1, mRNA.	352						integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						GAAGGAAGTCCTGCAGTGGGC	0.632000														83			14		0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086229	56086229	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:56086229C>T	uc010rjf.2	+	0	447	c.447C>T	c.(445-447)taC>taT	p.Y149Y		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					CAATCCCTTACCTCTATTGCA	0.433000														65			41		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193182888	193182888	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:193182888G>A	uc003ftd.3	-	11	1410	c.1302C>T	c.(1300-1302)gcC>gcT	p.A434A	ATP13A4_uc003fte.1_Silent_p.A434A|ATP13A4_uc011bsr.1_5'UTR|ATP13A4_uc010hzi.3_Non-coding_Transcript|ATP13A4_uc003ftf.4_Silent_p.A140A	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	434					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)		TGACGTCAAGGGCTTTCCTCA	0.478000														38			10		0	0	1	0	0
WDR37	22884	broad.mit.edu	37	10	1175199	1175199	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:1175199C>T	uc009xhm.1	+	13	1576	c.1403C>T	c.(1402-1404)cCc>cTc	p.P468L	WDR37_uc001igf.1_Missense_Mutation_p.P467L|WDR37_uc009xhn.1_Non-coding_Transcript|WDR37_uc001igg.1_Non-coding_Transcript	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	Homo sapiens WD repeat domain 37 (WDR37), mRNA.	467										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		GAAGACCACCCCGTGTGCAAT	0.483000														34			31		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325593	150325593	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:150325593C>T	uc022apv.1	-	2	783	c.303G>A	c.(301-303)agG>agA	p.R101R	GIMAP6_uc003whn.3_Silent_p.R31R|GIMAP6_uc003whm.3_Intron	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	31							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTTCTTTCTCCCTTAGACCTA	0.537000														163			58		0	0	1	0	0
RHOB	388	broad.mit.edu	37	2	20647579	20647579	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:20647579A>T	uc002rdv.3	+	0	745	c.353A>T	c.(352-354)aAa>aTa	p.K118I		NM_004040	NP_004031	P62745	RHOB_HUMAN	Homo sapiens ras homolog gene family, member B (RHOB), mRNA.	118					Rho protein signal transduction|angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		GTGGCCAACAAAAAAGACCTG	0.637000														130			30		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128380870	128380870	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:128380870G>A	uc002top.3	+	27	3714	c.3661G>A	c.(3661-3663)Gaa>Aaa	p.E1221K	MYO7B_uc002toq.1_Missense_Mutation_p.E74K|MYO7B_uc002tor.1_Missense_Mutation_p.E74K	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1221	FERM 1.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CACATCTCGGGAAATGTGCAT	0.607000														17			6		0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109104204	109104204	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:109104204T>C	uc002tec.3	+	16	4134	c.3980T>C	c.(3979-3981)gTt>gCt	p.V1327A	GCC2_uc002ted.3_Missense_Mutation_p.V1226A	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	1327					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAAGTCCGAGTTCATAATGTT	0.363000														45			20		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30750077	30750077	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:30750077C>T	uc002dze.1	+	33	9101	c.8716C>T	c.(8716-8718)Cct>Tct	p.P2906S	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P2701S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2906	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGTTGCAGATCCTGTCCTGGA	0.577000														17			20		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10265528	10265528	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10265528C>T	uc002gmk.1	-	4	502	c.412G>A	c.(412-414)Gag>Aag	p.E138K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	138	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCACCACCTCGGGCTTGTAC	0.537000														36			82		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38596027	38596027	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:38596027C>T	uc021wvo.1	-	25	4608	c.4556G>A	c.(4555-4557)gGc>gAc	p.G1519D	SCN5A_uc021wvk.1_Missense_Mutation_p.G1518D|SCN5A_uc021wvl.1_Missense_Mutation_p.G1465D|SCN5A_uc021wvm.1_Missense_Mutation_p.G1501D|SCN5A_uc021wvn.1_Missense_Mutation_p.G1518D|SCN5A_uc021wvp.1_Missense_Mutation_p.G1519D|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.G1331D|SCN5A_uc021wvi.1_Missense_Mutation_p.G1385D	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1519					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GAATATGAAGCCCTGGTACTT	0.512000														75			14		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35187464	35187464	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:35187464G>A	uc003teq.1	-	7	1126	c.19C>T	c.(19-21)Cat>Tat	p.H7Y	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		AAACTTTCATGGAGAGGTGGT	0.358000														12			3		0	0	1	0	0
C15orf42	90381	broad.mit.edu	37	15	90170247	90170247	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:90170247C>T	uc002boe.3	+	21	5663	c.5663C>T	c.(5662-5664)tCc>tTc	p.S1888F	C15orf42_uc021sug.1_Missense_Mutation_p.S1887F	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1888					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CGCGCTTTCTCCAGGAGGCGC	0.493000														190			58		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82390765	82390765	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:82390765C>T	uc003uhx.2	-	22	15341	c.15052G>A	c.(15052-15054)Gaa>Aaa	p.E5018K		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4941	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						GTCTTCATTTCCTTCTTCAAT	0.313000														10			18		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164714397	164714397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:164714397G>A	uc003fei.3	-	39	4681	c.4618C>T	c.(4618-4620)Cat>Tat	p.H1540Y		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1540	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTACAGAGATGATATTCTGAG	0.299000										HNSCC(35;0.089)				15			23		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106725374	106725374	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106725374G>A	uc021ser.1	-	927		c.22138C>T								Parts of antibodies, mostly variable regions.																		CCCTTCCCTGGAGCCTGGCGG	0.592000														208			29		0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49724984	49724984	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49724984C>T	uc009zlh.3	+	12	2523	c.2356C>T	c.(2356-2358)Cca>Tca	p.P786S	TROAP_uc001rtx.4_Intron	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	0					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TCTAAATTTTCCATGCCCCTC	0.582000														20			16		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55223849	55223849	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:55223849G>A	uc003pcm.1	+	5	951	c.865G>A	c.(865-867)Gtg>Atg	p.V289M		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	289						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGTCCTTCAAGTGCAATGTAC	0.413000														44			56		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415921	86415921	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:86415921C>T	uc003uid.3	+	2	1912	c.813C>T	c.(811-813)gtC>gtT	p.V271V	GRM3_uc010lef.3_Silent_p.V269V|GRM3_uc010leg.3_Silent_p.V143V|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	271					synaptic transmission	integral to plasma membrane		p.V271I(1)|p.R270R(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ACGCGCGCGTCGTGGTCCTCT	0.657000														25			73		0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42793828	42793828	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:42793828C>T	uc001uyl.2	+	27	3407	c.3340C>T	c.(3340-3342)Cct>Tct	p.P1114S	DGKH_uc010tfh.2_Missense_Mutation_p.P1114S|DGKH_uc001uym.2_Missense_Mutation_p.P1114S|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Missense_Mutation_p.P869S|DGKH_uc001uyo.2_Missense_Mutation_p.P978S|DGKH_uc010tfj.2_Missense_Mutation_p.P978S|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	1114					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		ACAGGAACCTCCTATGGATTG	0.363000														11			4		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128983558	128983559	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:128983558_128983559GG>AA	uc003kvb.1	+	11	1955_1956	c.1955_1956GG>AA	c.(1954-1956)ggg>gAA	p.G652E	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	652	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGCAGTGCTGGGATCAGCAGTC	0.520000														120			32		0	0	1	0	0
PHOSPHO2	493911	broad.mit.edu	37	2	170557699	170557699	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:170557699C>T	uc021vsh.1	+	3	536	c.218C>T	c.(217-219)cCt>cTt	p.P73L	PHOSPHO2_uc021vsi.1_Missense_Mutation_p.P73L|PHOSPHO2_uc021vsj.1_Missense_Mutation_p.P73L|PHOSPHO2_uc021vsg.1_Missense_Mutation_p.P73L|PHOSPHO2_uc002ufg.3_Missense_Mutation_p.P73L|KLHL23_uc002ufh.2_Intron|PHOSPHO2_uc021vsk.1_Missense_Mutation_p.P73L	NM_001199288	NP_001186217	Q8TCD6	PHOP2_HUMAN	Homo sapiens phosphatase, orphan 2 (PHOSPHO2), transcript variant 5, mRNA.	73							metal ion binding|pyridoxal phosphatase activity			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						ACATCATTGCCTTTCACTCCA	0.353000														37			21		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934527	28934527	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:28934527G>A	uc002kwp.3	+	14	2580	c.2368G>A	c.(2368-2370)Gag>Aag	p.E790K	DSG1_uc010xbp.2_Missense_Mutation_p.E149K	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	790					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	p.E790K(2)|p.T789T(1)		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)			TCAGGAAACAGAGCCCGTTGT	0.507000														70			25		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32018087	32018087	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:32018087C>T	uc003nzl.2	-	26	9323	c.9121G>A	c.(9121-9123)Gaa>Aaa	p.E3041K		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3088	Fibronectin type-III 22.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTCTCGGCTTCATCCTTTGGA	0.582000														544			120		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7635262	7635262	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:7635262C>T	uc001qsz.3	-	13	3352	c.3224G>A	c.(3223-3225)cGa>cAa	p.R1075Q	CD163_uc001qta.3_Missense_Mutation_p.R1075Q|CD163_uc009zfw.2_Missense_Mutation_p.R1108Q	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1075					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.R1075Q(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCTCTGTCTTCGCTTTTTAGT	0.433000														130			43		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51352496	51352496	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:51352496C>T	uc011bds.2	+	31	3362	c.3339C>T	c.(3337-3339)atC>atT	p.I1113I		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1113						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TACGGAATATCATGATTCCCA	0.448000														13			24		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46060331	46060331	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:46060331G>A	uc003gxb.3	-	6	971	c.819C>T	c.(817-819)ttC>ttT	p.F273F		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	273					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.Y272F(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCTGAATAGTGAAATATCCCA	0.343000														15			14		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160953632	160953632	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:160953632C>A	uc003qtl.3	-	38	6012	c.5892G>T	c.(5890-5892)gaG>gaT	p.E1964D		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4472	Kringle 18.				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)	ACACTTCATTCTCAATAACAA	0.418000														18			10		0.000442599	0.000443096	1	1	0
AMTN	401138	broad.mit.edu	37	4	71398172	71398172	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:71398172G>A	uc003hfk.1	+	9	709	c.620_splice	c.e9-1	p.G207_splice	AMTN_uc010ihy.1_Splice_Site_p.G206_splice	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	Homo sapiens amelotin (AMTN), mRNA.	207					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction		p.G207E(1)		NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			TTTCTTCCAGGAATTCAGTAA	0.294000														25			12		0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125887045	125887045	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:125887045G>A	uc009zbw.3	-	5	994	c.866C>T	c.(865-867)tCc>tTc	p.S289F	CDON_uc001qdc.4_Missense_Mutation_p.S289F|CDON_uc001qdd.4_Non-coding_Transcript|CDON_uc009zbx.3_Missense_Mutation_p.S289F	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	289	Ig-like C2-type 3.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CGCCATGCAGGAATAGTTTCC	0.433000														17			9		0	0	1	0	0
TUBA1A	7846	broad.mit.edu	37	12	49579071	49579071	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49579071G>A	uc009zlf.3	-	3	1350	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S	TUBA1A_uc001rtp.3_Missense_Mutation_p.P360S	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	Homo sapiens tubulin, alpha 1a (TUBA1A), mRNA.	360					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						ACCACAGTGGGAGGCTGGTAG	0.572000														31			13		0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45513922	45513922	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:45513922C>T	uc001wvw.3	+	12	4212	c.4003C>T	c.(4003-4005)Caa>Taa	p.Q1335*	FAM179B_uc001wvv.3_Nonsense_Mutation_p.Q1335*|FAM179B_uc010anc.3_Non-coding_Transcript	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	1335							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GAGCATGGATCAAGAGCTAGA	0.343000														39			12		0	0	1	0	0
GLYAT	10249	broad.mit.edu	37	11	58482865	58482865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:58482865C>T	uc001nnb.3	-	2	268	c.113G>A	c.(112-114)gGa>gAa	p.G38E	GLYAT_uc001nnc.3_Missense_Mutation_p.G38E	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	38					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GAATGGATTTCCATGGTTTAT	0.398000														42			7		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39227957	39227957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:39227957G>A	uc003cjk.2	-	1	3209	c.2980C>T	c.(2980-2982)Cct>Tct	p.P994S	XIRP1_uc003cji.3_Missense_Mutation_p.P994S|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.P994S	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	994							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCCTGAGGAGGGCAAGGGGTG	0.602000														51			16		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039810	36039810	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:36039810C>T	uc003jjz.2	-	5	976	c.844_splice	c.e5-1	p.D282_splice	UGT3A2_uc011cos.2_Splice_Site_p.D248_splice|UGT3A2_uc011cot.2_Splice_Site	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	282						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCTCCAAGTCCTGGAGAAAG	0.443000														40			5		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9538327	9538327	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:9538327G>A	uc002wnl.2	-	7	2216	c.1671C>T	c.(1669-1671)tcC>tcT	p.S557S	PAK7_uc002wnk.2_Silent_p.S557S|PAK7_uc002wnj.2_Silent_p.S557S|PAK7_uc010gby.1_Silent_p.S557S	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	557	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TATGAAGGTAGGAGAGAGCTC	0.438000														26			19		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	23000893	23000893	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:23000893G>A	uc001wgc.2	+	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I	TCRA_uc001wbw.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc001wdv.4_Intron|TCRA_uc001wec.3_Intron|TCRA_uc001wee.4_Intron|TCRA_uc010tmt.1_Intron|TCRA_uc010ajv.1_Intron|TCRA_uc001weg.2_Intron|TCRA_uc001wei.3_Intron|TCRA_uc001wej.3_Intron|TCRA_uc001wek.3_Intron|TCRA_uc001wel.3_Intron|TCRA_uc001wem.4_Intron|TCRA_uc001wen.2_Intron|TCRA_uc001weo.2_Intron|TCRA_uc001wep.3_Intron|TCRA_uc001weq.3_Intron|TCRA_uc021rqa.1_Intron|TCRA_uc021rqb.1_Intron|TCRA_uc001wet.3_Intron|TCRA_uc001weu.3_Intron|TCRA_uc001wev.3_Intron|TCRA_uc010tmv.2_Intron|TCRA_uc001wez.2_Intron|TCRA_uc010ajx.1_Intron|TCRA_uc001wfb.2_Intron|TCRA_uc021rqh.1_Intron|TCRA_uc001wfd.1_Intron|TCRA_uc001wfe.3_Intron|TCRA_uc001wfg.2_Intron|TCRA_uc001wfh.1_Intron|TCRA_uc001wfi.2_Intron|TCRA_uc001wfk.3_Intron|TCRA_uc001wfl.3_Intron|TCRA_uc010ajy.2_Intron|TCRA_uc001wfn.3_Intron|TCRA_uc001wfp.3_Intron|TCRA_uc001wfq.2_Intron|TCRA_uc001wfr.1_Intron|TCRA_uc010ajz.1_Intron|TCRA_uc001wfs.2_Intron|TCRA_uc001wft.2_Intron|TCRA_uc001wfu.3_Intron|TCRA_uc001wfv.2_Intron|TCRA_uc001wfw.1_Intron|TCRA_uc001wfx.3_Intron|TCRA_uc001wfy.2_Intron|TCRA_uc001wfz.1_Intron|TCRA_uc021rqn.1_Non-coding_Transcript|TCRA_uc001wgb.3_Non-coding_Transcript|TCRA_uc021rqo.1_5'Flank|TCRA_uc001wge.4_5'Flank|TCRA_uc021rqp.1_5'Flank					SubName: Full=Alpha-chain C region; Flags: Fragment;																		ACTGTGGGATGGATAGCAGCT	0.453000														67			21		0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222347308	222347308	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:222347308G>A	uc002vmq.3	-	4	1124	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F	EPHA4_uc002vmr.2_Missense_Mutation_p.S361F|EPHA4_uc010zlm.1_Missense_Mutation_p.S302F	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	361	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.S361F(3)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CACATTATAGGAAATGTCCTG	0.517000														65			51		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53581758	53581758	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:53581758G>A	uc004dsp.3	-	60	8732	c.8330C>T	c.(8329-8331)cCa>cTa	p.P2777L	HUWE1_uc004dsn.3_Missense_Mutation_p.P1601L|DM119504_uc022bxh.1_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	2777					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAAAGCTGGTGGGGTTGGGAG	0.542000														13			17		0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8616138	8616138	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:8616138G>A	uc003glm.3	+	8	1590	c.1416G>A	c.(1414-1416)gaG>gaA	p.E472E	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.E461E|CPZ_uc003gln.3_Silent_p.E335E	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	472					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCACGGTAGAGCTGGGCTGTG	0.572000														15			18		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22001165	22001165	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:22001165G>A	uc001rfh.3	-	22	2805	c.2785C>T	c.(2785-2787)Caa>Taa	p.Q929*	ABCC9_uc001rfi.1_Nonsense_Mutation_p.Q929*	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	929					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAAGTAGTTTGGTCAGCTTCC	0.418000														31			24		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39226590	39226590	+	Silent	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:39226590G>T	uc003cjk.2	-	1	4576	c.4347C>A	c.(4345-4347)ccC>ccA	p.P1449P	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Silent_p.P132P|XIRP1_uc021wvz.1_Silent_p.P1449P	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1449							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AACCTTCCATGGGCTGCTCTC	0.627000														45			69		5.21738e-30	5.28952e-30	1	1	0
ZGPAT	84619	broad.mit.edu	37	20	62367163	62367163	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:62367163G>A	uc002ygk.3	+	6	1677	c.1488G>A	c.(1486-1488)gaG>gaA	p.E496E	ZGPAT_uc002ygi.2_Silent_p.E476E|ZGPAT_uc010gkk.2_Silent_p.E53E|ZGPAT_uc010gkl.2_Silent_p.E476E|ZGPAT_uc002ygm.3_Silent_p.E467E|ZGPAT_uc002ygj.2_Silent_p.E476E|ZGPAT_uc002ygn.4_Non-coding_Transcript|ZGPAT_uc011abi.2_5'UTR|ZGPAT_uc002ygp.4_5'UTR	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.	496					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					AGCTGCAGGAGAAGCTGGCAG	0.667000														26			3		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104987692	104987692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:104987692G>A	uc003yls.3	+	13	2460	c.2219G>A	c.(2218-2220)gGa>gAa	p.G740E	RIMS2_uc003ylp.3_Missense_Mutation_p.G962E|RIMS2_uc003ylw.2_Missense_Mutation_p.G754E|RIMS2_uc003ylq.3_Missense_Mutation_p.G754E|RIMS2_uc003ylr.3_Missense_Mutation_p.G801E|RIMS2_uc003ylt.3_Missense_Mutation_p.G347E	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1024	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GATGTTATAGGAAGGACTAGA	0.433000										HNSCC(12;0.0054)				6			23		0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100387194	100387194	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:100387194C>T	uc001ygr.3	+	17	2015	c.1946C>T	c.(1945-1947)tCt>tTt	p.S649F	EML1_uc010tww.2_Missense_Mutation_p.S618F|EML1_uc001ygs.3_Missense_Mutation_p.S630F	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	630						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GAACAGCTCTCTGTAATGCGA	0.383000														52			47		0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44806154	44806154	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:44806154C>T	uc003tlr.3	+	17	2670	c.2547C>T	c.(2545-2547)ggC>ggT	p.G849G	ZMIZ2_uc003tlq.3_Silent_p.G791G|ZMIZ2_uc003tls.3_Silent_p.G823G|ZMIZ2_uc003tlt.3_Silent_p.G472G|ZMIZ2_uc010kyj.3_Silent_p.G371G|ZMIZ2_uc003tlu.3_Silent_p.G130G|ZMIZ2_uc010kyk.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	849	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGTCCTTGGGCCAAGCGAGCT	0.657000														53			82		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38941395	38941395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:38941395G>A	uc021wvy.1	-	12	2211	c.2012C>T	c.(2011-2013)tCc>tTc	p.S671F		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	671					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			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)	CACTCTGAAGGAACGCAAGAA	0.413000														20			6		0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39588581	39588581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:39588581G>A	uc001uwy.3	-	10	1681	c.808C>T	c.(808-810)Cct>Tct	p.P270S	PROSER1_uc001uwz.3_Missense_Mutation_p.P248S	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	270	Pro-rich.																GAACCATGAGGAGAAAAGAGT	0.433000														11			23		0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38160304	38160304	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:38160304C>T	uc001uwo.4	-	6	985	c.867G>A	c.(865-867)agG>agA	p.R289R	POSTN_uc001uwp.4_Silent_p.R289R|POSTN_uc001uwr.3_Silent_p.R289R|POSTN_uc001uwq.3_Silent_p.R289R|POSTN_uc010teu.1_Silent_p.R289R|POSTN_uc010tev.1_Silent_p.R289R|POSTN_uc010tew.1_Silent_p.R289R|POSTN_uc010tex.1_Silent_p.R204R	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	289	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTCCCATGATCCTTTCTAGGA	0.468000														46			24		0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909126	123909126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:123909126C>T	uc001pzq.1	-	0	583	c.583G>A	c.(583-585)Gag>Aag	p.E195K		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N194N(1)|p.N194K(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ATGACCATCTCGTTGGCTGAG	0.542000														131			17		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688989	60688989	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:60688989G>A	uc002sae.1	-	3	1286	c.1058C>T	c.(1057-1059)cCc>cTc	p.P353L	BCL11A_uc002sab.3_Missense_Mutation_p.P353L|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Missense_Mutation_p.P319L|BCL11A_uc002sad.1_Missense_Mutation_p.P201L|BCL11A_uc002saf.1_Missense_Mutation_p.P319L	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	353	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)			CGCCAGGAAGGGCGGCTTGCT	0.652000			T	IGH@	B-CLL									574			87		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574308	140574308	+	Missense_Mutation	SNP	C	T	T	rs149961535		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140574308C>T	uc003lix.3	+	0	2357	c.2183C>T	c.(2182-2184)tCg>tTg	p.S728L		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	728					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCGCTGCTCGGTGCCCGAG	0.672000														42			100		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40739032	40739032	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:40739032G>A	uc002xkg.3	-	22	3379	c.3195C>T	c.(3193-3195)ttC>ttT	p.F1065F	PTPRT_uc010ggj.3_Silent_p.F1084F|PTPRT_uc010ggi.3_Silent_p.F268F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1065	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCTGGCGGACGAAGCCCAGAA	0.622000														53			9		0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72936715	72936715	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:72936715G>A	uc001xna.4	+	8	983	c.460_splice	c.e8-1	p.E154_splice	RGS6_uc021rvv.1_Splice_Site_p.E119_splice|RGS6_uc010ttn.2_Splice_Site_p.E154_splice|RGS6_uc021rvw.1_Splice_Site_p.E154_splice|RGS6_uc021rvx.1_Splice_Site_p.E154_splice|RGS6_uc021rvy.1_Splice_Site_p.E154_splice|RGS6_uc021rvz.1_Splice_Site_p.E154_splice|RGS6_uc001xmy.4_Splice_Site_p.E154_splice|RGS6_uc010tto.2_Splice_Site|RGS6_uc001xmx.4_Splice_Site_p.E154_splice|RGS6_uc021rwa.1_Splice_Site_p.E154_splice|RGS6_uc021rwb.1_Splice_Site_p.E154_splice|RGS6_uc010ttp.1_Splice_Site_p.E85_splice|RGS6_uc021rwc.1_Splice_Site_p.E15_splice|RGS6_uc010arg.3_Splice_Site	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	154					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(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TTCTCATTAGGAAAACTTAGC	0.393000														28			24		0	0	1	0	0
WDFY2	115825	broad.mit.edu	37	13	52313275	52313275	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:52313275G>A	uc001vfp.3	+	6	1029	c.689G>A	c.(688-690)gGg>gAg	p.G230E	WDFY2_uc010ads.1_Missense_Mutation_p.G230E|WDFY2_uc010adt.1_Non-coding_Transcript	NM_052950	NP_443182	Q96P53	WDFY2_HUMAN	Homo sapiens WD repeat and FYVE domain containing 2 (WDFY2), mRNA.	230							metal ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		GACATCGGTGGGAGAAAAGGA	0.512000														23			37		0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43585714	43585714	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:43585714G>A	uc001zrf.1	-	1	131	c.126C>T	c.(124-126)taC>taT	p.Y42Y		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	42					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		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;9.14e-07)	L-Glutamine(DB00130)	TCAGCCGGAGGTAGAAGGGCT	0.622000														108			73		0	0	1	0	0
KCNIP1	30820	broad.mit.edu	37	5	170147385	170147385	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:170147385C>T	uc003mas.3	+	3	809	c.280C>T	c.(280-282)Cct>Tct	p.P94S	KCNIP1_uc003map.3_Missense_Mutation_p.P92S|KCNIP1_uc003mat.3_Missense_Mutation_p.P83S|KCNIP1_uc010jjp.3_Missense_Mutation_p.P55S|KCNIP1_uc010jjq.3_Missense_Mutation_p.P83S	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 1, mRNA.	94	EF-hand 1; degenerate.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCAGTTTTTCCCTCATGGAGG	0.532000														33			5		0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107576049	107576049	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:107576049C>T	uc003vev.2	-	24	4232	c.4071G>A	c.(4069-4071)gaG>gaA	p.E1357E	LAMB1_uc003vew.2_Silent_p.E1333E	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	1333	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATTCACCCTCTCCTCTGCCT	0.498000														97			22		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92345806	92345806	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:92345806C>T	uc010tif.2	+	2	1057	c.691C>T	c.(691-693)Ctg>Ttg	p.L231L		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	231						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GGCACTCAATCTGGGCATTGA	0.537000														21			9		0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43221841	43221841	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:43221841C>T	uc002yzq.1	-	30	4194	c.4083G>A	c.(4081-4083)tcG>tcA	p.S1361S	PRDM15_uc002yzo.3_Silent_p.S1032S|PRDM15_uc002yzp.3_Silent_p.S1052S|PRDM15_uc002yzr.1_Silent_p.S1052S	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	1361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CGACTGAGCTCGATGGTGTGG	0.542000														50			25		0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55360232	55360232	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:55360232G>A	uc003pcn.3	-	7	1029	c.870C>T	c.(868-870)atC>atT	p.I290I	HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Silent_p.I260I|HMGCLL1_uc010jzx.3_Silent_p.I161I|HMGCLL1_uc011dxc.2_Silent_p.I228I|HMGCLL1_uc011dxd.2_Silent_p.I157I	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	290							hydroxymethylglutaryl-CoA lyase activity|metal ion binding	p.I290F(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGGCCGTAAGGATATTTGCTA	0.388000														29			13		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70931970	70931970	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:70931970G>A	uc001swb.4	-	25	5287	c.5257C>T	c.(5257-5259)Cct>Tct	p.P1753S	BC031864_uc001svz.3_Non-coding_Transcript|PTPRB_uc010sto.2_Missense_Mutation_p.P1663S|PTPRB_uc010stp.2_Missense_Mutation_p.P1663S|PTPRB_uc001swc.4_Missense_Mutation_p.P1971S|PTPRB_uc001swa.4_Missense_Mutation_p.P1883S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1753	Tyrosine-protein phosphatase.				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)			TCAGAGCAAGGATCATCATCT	0.483000														58			39		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7632482	7632482	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:7632482C>T	uc001qsz.3	-	15	3582	c.3454G>A	c.(3454-3456)Gaa>Aaa	p.E1152K	CD163_uc001qta.3_3'UTR|CD163_uc009zfw.2_3'UTR	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1152					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTCCCATTTTCCTTTTCAGTG	0.403000														30			21		0	0	1	0	0
UBTFL1	642623	broad.mit.edu	37	11	89819618	89819618	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:89819618C>T	uc010rub.2	+	0	501	c.501C>T	c.(499-501)ttC>ttT	p.F167F		NM_001143975	NP_001137447	P0CB47	UBFL1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I-like 1 (UBTFL1), mRNA.	167					multicellular organismal development	cytoplasm|nucleus	DNA binding										TTGCTCGATTCAGGGAAGAAC	0.388000														21			3		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874177	36874177	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:36874177G>A	uc003cgj.3	-	20	7013	c.6765C>T	c.(6763-6765)tcC>tcT	p.S2255S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2255					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGAACCGGAAGGATTTGTAAT	0.453000														31			53		0	0	1	0	0
MAK	4117	broad.mit.edu	37	6	10830879	10830879	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:10830879C>T	uc021ylk.1	-	1	285	c.3G>A	c.(1-3)atG>atA	p.M1I	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.3_Non-coding_Transcript|MAK_uc010jou.3_Non-coding_Transcript|MAK_uc003mzm.3_Missense_Mutation_p.M1I|MAK_uc021yll.1_Missense_Mutation_p.M1I|MAK_uc010jov.2_Non-coding_Transcript|MAK_uc021ylm.1_Non-coding_Transcript	NM_001242957	NP_001229886	P20794	MAK_HUMAN	Homo sapiens male germ cell-associated kinase (MAK), transcript variant 3, mRNA.	1					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TGTATCGGTTCATCTTGGAAA	0.418000														90			16		0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68475844	68475844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:68475844C>T	uc001ooc.3	-	9	1599	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K		NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA.	487					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CTTCCAAATTCCTCCAGGATC	0.483000														69			11		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69666580	69666580	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:69666580C>T	uc010kak.3	+	6	1680	c.1404C>T	c.(1402-1404)tcC>tcT	p.S468S	BAI3_uc003pev.4_Silent_p.S468S	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	468	TSP type-1 4.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTGGTTGTTCCAAGTCCTGTG	0.473000														63			17		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372884	126372884	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:126372884G>A	uc003ifj.4	+	8	10713	c.10713G>A	c.(10711-10713)gaG>gaA	p.E3571E	FAT4_uc011cgp.2_Silent_p.E1869E|FAT4_uc003ifi.1_Silent_p.E1049E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3571	Cadherin 34.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAACCAGAGAGATTGACAGAG	0.458000														140			31		0	0	1	0	0
AIF1	199	broad.mit.edu	37	6	31584596	31584596	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:31584596C>T	uc003nuy.3	+	5	437	c.363C>T	c.(361-363)atC>atT	p.I121I	AIF1_uc010jsy.3_3'UTR|AIF1_uc003nva.3_Silent_p.I67I	NM_001623	NP_116573	P55008	AIF1_HUMAN	Homo sapiens allograft inflammatory factor 1 (AIF1), transcript variant 3, mRNA.	121					actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding			lung(2)|ovary(1)	3						CAACCAGGATCCTGATGTATG	0.498000														60			19		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54604108	54604108	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:54604108G>A	uc003dhf.3	+	7	913	c.865G>A	c.(865-867)Gat>Aat	p.D289N	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.D195N|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.D23N	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	289	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ACTTGGGGATGATGACTTCTT	0.443000														103			64		0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125288700	125288700	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:125288700C>T	uc004bmn.1	-	0	873	c.873G>A	c.(871-873)agG>agA	p.R291R		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGTCCTTGTTCCTTAGGCTAT	0.463000														14			13		0	0	1	0	0
SEMA4F	10505	broad.mit.edu	37	2	74907304	74907304	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:74907304C>T	uc002sna.1	+	13	2392	c.2281C>T	c.(2281-2283)Cct>Tct	p.P761S	SEMA4F_uc010ffr.1_Missense_Mutation_p.P373S|SEMA4F_uc002snb.1_Missense_Mutation_p.P373S|SEMA4F_uc002snc.1_Missense_Mutation_p.P606S	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	761					cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						AACTGGGGCTCCTCTAGCCAC	0.557000														99			14		0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176823738	176823738	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:176823738C>T	uc003mgk.4	+	10	1283	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	393					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGCAGACTTCCCTGCCCCCT	0.647000														41			13		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57257924	57257924	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:57257924T>C	uc001cym.4	-	1	968	c.562A>G	c.(562-564)Aca>Gca	p.T188A	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.T188A	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	188										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GCTCCTTTTGTTTCCAGCTTT	0.473000														42			27		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181689961	181689961	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:181689961C>T	uc009wxt.3	+	14	2121	c.1926C>T	c.(1924-1926)acC>acT	p.T642T	CACNA1E_uc001gow.3_Silent_p.T642T|CACNA1E_uc009wxs.3_Silent_p.T642T	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	642					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.T642P(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATTTTGATACCTTCCCTGCAG	0.428000														22			8		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168108428	168108428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:168108428C>T	uc002udx.3	+	8	10615	c.10526C>T	c.(10525-10527)aCc>aTc	p.T3509I	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.T3334I|XIRP2_uc010fpq.3_Missense_Mutation_p.T3287I|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3334					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						ATGAGAACCACCTTCCAAGAG	0.388000														31			6		0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283441	33283441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:33283441G>A	uc003oeb.3	-	1	1405	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L	TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.P418L|ZBTB22_uc021ywm.1_Missense_Mutation_p.P418L	NM_005453	NP_005444	O15209	ZBT22_HUMAN	Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CATGTCCAAGGGAAGGAGCGG	0.617000														97			124		0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153249511	153249511	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:153249511C>A	uc003ims.3	-	8	1429	c.1267G>T	c.(1267-1269)Gga>Tga	p.G423*	FBXW7_uc011cii.2_Nonsense_Mutation_p.G423*|FBXW7_uc003imt.3_Nonsense_Mutation_p.G423*|FBXW7_uc011cih.2_Nonsense_Mutation_p.G247*|FBXW7_uc003imq.3_Nonsense_Mutation_p.G343*|FBXW7_uc003imr.3_Nonsense_Mutation_p.G305*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	423					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.G423V(6)|p.G423R(2)|p.G343R(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GACCATACTCCACCTGTATGT	0.373000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""									87			89		5.52034e-35	5.59879e-35	1	1	0
COL1A2	1278	broad.mit.edu	37	7	94049944	94049944	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:94049944G>A	uc003ung.1	+	36	2750	c.2279G>A	c.(2278-2280)gGa>gAa	p.G760E	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	760			Missing (in OI2A).		Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGCCCCGTTGGAGCTGCTGGC	0.512000										HNSCC(75;0.22)				5			8		0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160831821	160831821	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:160831821G>A	uc003qti.3	+	4	945	c.918G>A	c.(916-918)caG>caA	p.Q306Q	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	306						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		AAGCATTACAGATCCTGAGAC	0.428000														22			13		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903689	5903689	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:5903689C>T	uc002wmg.3	+	3	1205	c.899C>T	c.(898-900)cCc>cTc	p.P300L	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	300						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGGAGTCTTCCCTCTGAGGAA	0.587000														16			13		0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68704546	68704546	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:68704546G>A	uc001ook.1	+	12	2700	c.2598G>A	c.(2596-2598)aaG>aaA	p.K866K	IGHMBP2_uc001ool.1_Silent_p.K490K|IGHMBP2_uc001oom.1_Silent_p.K444K	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	866	Poly-Lys.			K -> T (in Ref. 6; AAA58611).	DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AAAAGAAAAAGAAAAAAGCCA	0.572000														42			10		0	0	1	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22830831	22830831	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:22830831G>A	uc001irl.4	-	7	1186	c.938C>T	c.(937-939)cCc>cTc	p.P313L	PIP4K2A_uc010qcu.2_Missense_Mutation_p.P173L	NM_005028	NP_005019	P48426	PI42A_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP4K2A), mRNA.	313	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						GCTATCTGGGGGGGTTCCCAC	0.582000														54			52		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389863	48389863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:48389863C>T	uc001jez.3	-	0	1129	c.1015G>A	c.(1015-1017)Gac>Aac	p.D339N		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	339	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GTGTAGTAGTCCTTCAGGACC	0.642000														31			17		0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810601	123810601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:123810601C>T	uc001pzk.1	+	0	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I92I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCTACCATTTCCTTTGGTGGA	0.468000														4			42		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141773305	141773305	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:141773305T>A	uc002tvj.1	-	12	3122	c.2150A>T	c.(2149-2151)gAt>gTt	p.D717V	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	717					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D717N(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)		TTCAATATGATCGTAATAGGC	0.388000										TSP Lung(27;0.18)				10			15		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38884169	38884169	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:38884169G>A	uc003jln.2	+	4	1061	c.659G>A	c.(658-660)gGa>gAa	p.G220E	OSMR_uc003jlm.2_Missense_Mutation_p.G220E	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	220					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	p.Q219H(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GCAAGTCAAGGAAATGTCAGT	0.388000														30			72		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204951005	204951005	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:204951005G>A	uc010prc.2	+	19	2557	c.1028G>A	c.(1027-1029)tGg>tAg	p.W343*	NFASC_uc001hbj.3_Nonsense_Mutation_p.W776*|NFASC_uc010pra.2_Nonsense_Mutation_p.W772*|NFASC_uc001hbi.3_Nonsense_Mutation_p.W772*|NFASC_uc010prb.2_Nonsense_Mutation_p.W787*|NFASC_uc001hbk.1_Nonsense_Mutation_p.W582*|NFASC_uc001hbl.2_Nonsense_Mutation_p.W26*			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	776	Ig-like C2-type 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CGAGAGGCCTGGAACAACGTC	0.602000														55			15		0	0	1	0	0
KRT17	3872	broad.mit.edu	37	17	39780518	39780518	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:39780518C>T	uc002hxh.2	-	0	365	c.244G>A	c.(244-246)Gga>Aga	p.G82R	JUP_uc010wfs.2_Intron|KRT17_uc010wft.2_Missense_Mutation_p.G82R	NM_000422	NP_000413	Q04695	K1C17_HUMAN	Homo sapiens keratin 17 (KRT17), mRNA.	82	Head.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				TTCTCACCTCCAGCCAGCAGC	0.622000														64			80		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35770831	35770831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:35770831C>T	uc011axy.2	+	12	1372	c.1160C>T	c.(1159-1161)tCg>tTg	p.S387L	ARPP21_uc003cga.3_Missense_Mutation_p.S367L|ARPP21_uc003cgb.3_Missense_Mutation_p.S421L|ARPP21_uc003cgf.3_Missense_Mutation_p.S222L|ARPP21_uc003cgg.3_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	421	Ser-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TCCTCAGGATCGCTGTCCCGC	0.537000														53			14		0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119003692	119003692	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:119003692C>T	uc001ldd.2	+	2	495	c.332C>T	c.(331-333)tCc>tTc	p.S111F	SLC18A2_uc009xyy.2_5'UTR	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	111					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	ACCAACGCGTCCGCTGTTCCT	0.512000														39			30		0	0	1	0	0
ATP6V0C	527	broad.mit.edu	37	16	2569620	2569620	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:2569620G>A	uc021tav.1	+	3	417	c.342G>A	c.(340-342)ggG>ggA	p.G114G	TBC1D24_uc002cqm.3_3'UTR|ATP6V0C_uc002cqn.3_Silent_p.G114G|AMDHD2_uc002cqp.3_5'Flank|AMDHD2_uc002cqq.3_5'Flank|AMDHD2_uc010uwc.2_5'Flank|AMDHD2_uc010uwd.2_5'Flank	NM_001198569	NP_001185498	P27449	VATL_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c (ATP6V0C), transcript variant 2, mRNA.	114					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|interspecies interaction between organisms|transferrin transport	endosome membrane|integral to membrane|proton-transporting ATP synthase complex, coupling factor F(o)|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism|ubiquitin protein ligase binding			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				GCATCGTGGGGGACGCTGGCG	0.682000														14			22		0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	203991366	203991366	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:203991366C>T	uc002uzt.3	+	20	3318	c.2985C>T	c.(2983-2985)ctC>ctT	p.L995L		NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	995							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						ATATGCAGCTCCTGCAACAAA	0.383000														204			92		0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	135977931	135977931	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:135977931G>A	uc004cco.3	-	13	1961	c.1941C>T	c.(1939-1941)ccC>ccT	p.P647P	RALGDS_uc004ccn.3_5'Flank|RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Silent_p.P635P|RALGDS_uc004ccr.3_Silent_p.P646P|RALGDS_uc011mcv.2_Silent_p.P618P|RALGDS_uc004ccs.3_Silent_p.P592P|RALGDS_uc011mcw.2_Silent_p.P718P|RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccv.1_Silent_p.P416P|RALGDS_uc004ccu.1_Silent_p.P416P	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	647	Ras-GEF.				Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ACTCGGATGGGGGCTCCAGCT	0.632000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									44			14		0	0	1	0	0
DAND5	199699	broad.mit.edu	37	19	13080480	13080480	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:13080480C>T	uc002mwc.1	+	0	157	c.6C>T	c.(4-6)ctC>ctT	p.L2L	DAND5_uc010dyz.1_Silent_p.L32L	NM_152654	NP_689867	Q8N907	DAND5_HUMAN	Homo sapiens DAN domain family, member 5 (DAND5), mRNA.	2						extracellular region				kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			agcagaTGCTCCTTGGCCAGC	0.617000														55			33		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876216	35876216	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:35876216G>A	uc003jjs.3	+	7	1097	c.1008G>A	c.(1006-1008)gaG>gaA	p.E336E	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	336					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)			AAGAATCTGAGAAGCAGAGGC	0.488000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							19			36		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79410076	79410076	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:79410076G>A	uc003hlb.2	+	58	9240	c.8800G>A	c.(8800-8802)Gag>Aag	p.E2934K		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2929	Calx-beta 4.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GAAGGAGAAGGAGGGTGTCCT	0.537000														32			11		0	0	1	0	0
RHBDD3	25807	broad.mit.edu	37	22	29656481	29656481	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:29656481C>T	uc003aeq.1	-	5	1189	c.817G>A	c.(817-819)Gca>Aca	p.A273T		NM_012265	NP_036397	Q9Y3P4	RHBD3_HUMAN	Homo sapiens rhomboid domain containing 3 (RHBDD3), mRNA.	273						integral to membrane	serine-type endopeptidase activity			lung(1)|ovary(1)	2						TCCAGGCCTGCCTCTGAGGAG	0.667000														8			11		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16271479	16271479	+	Missense_Mutation	SNP	C	T	T	rs72653794		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:16271479C>T	uc002den.4	-	18	2457	c.2420G>A	c.(2419-2421)cGg>cAg	p.R807Q	ABCC6_uc010bvo.3_Intron	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	807	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CACGAGAATCCGTGTCTGGGC	0.562000														36			20		0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141955432	141955432	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141955432C>T	uc003vxb.3	-	1	422	c.102G>A	c.(100-102)ttG>ttA	p.L34L	PRSS58_uc003vxc.4_Silent_p.L34L	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	34	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AGTCAGATTTCAAATAGACCA	0.468000														25			24		0	0	1	0	0
OSCAR	126014	broad.mit.edu	37	19	54600214	54600214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:54600214C>T	uc002qdd.3	-	3	500	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	OSCAR_uc002qcy.3_Missense_Mutation_p.R107Q|OSCAR_uc002qcz.3_Missense_Mutation_p.R103Q|OSCAR_uc002qda.3_Missense_Mutation_p.R107Q|OSCAR_uc002qdb.3_Missense_Mutation_p.R92Q|OSCAR_uc010erc.3_Silent_p.P70P|OSCAR_uc002qdc.3_Missense_Mutation_p.R117Q|OSCAR_uc021vbh.1_5'Flank	NM_206818	NP_996554	Q8IYS5	OSCAR_HUMAN	Homo sapiens osteoclast associated, immunoglobulin-like receptor (OSCAR), transcript variant 1, mRNA.	103	Ig-like 2.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GTCTGGCCTTCGGTAGCAGCA	0.632000														18			19		0	0	1	0	0
AGAP7	653268	broad.mit.edu	37	10	51465496	51465496	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:51465496C>T	uc001jio.3	-	6	1086	c.960G>A	c.(958-960)aaG>aaA	p.K320K	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	320	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GGGATGGCCACTTTCCTGGGA	0.463000														154			35		0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44837539	44837539	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:44837539G>A	uc002zdf.2	-	12	1987	c.1860C>T	c.(1858-1860)gcC>gcT	p.A620A		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	620					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						CGCCCCTGCTGGCCCGGCTGG	0.716000														14			4		0	0	1	0	0
LINGO3	645191	broad.mit.edu	37	19	2290687	2290687	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:2290687G>A	uc010dsx.1	-	1	1217	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	SPPL2B_uc010dsw.1_Intron|LINGO3_uc021ums.1_Silent_p.I363I|AX747191_uc002lvo.1_5'UTR	NM_001101391	NP_001094861	P0C6S8	LIGO3_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 3 (LINGO3), mRNA.	363	LRRCT.					integral to membrane				lung(1)|urinary_tract(1)	2						GACGCTGCACGATCCACAGCA	0.697000														12			3		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140772578	140772578	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140772578C>T	uc003lkd.2	+	0	1096	c.198C>T	c.(196-198)atC>atT	p.I66I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Silent_p.I66I|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	66	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L66S(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTCCGTATCGTCTCCAGAG	0.617000														12			39		0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141952185	141952185	+	Silent	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141952185A>T	uc003vxb.3	-	4	902	c.582T>A	c.(580-582)gtT>gtA	p.V194V	PRSS58_uc003vxc.4_Silent_p.V194V	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	194	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GGGCAGCAGAAACTTCCTGCC	0.408000														23			19		0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57003319	57003319	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:57003319C>T	uc002eki.2	+	2	312	c.255C>T	c.(253-255)tcC>tcT	p.S85S	CETP_uc002ekj.2_Silent_p.S85S	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	85					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						GCCACTTGTCCATCGCCAGCA	0.542000														50			29		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761009	92761009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:92761009G>A	uc003umh.1	-	4	5492	c.4276C>T	c.(4276-4278)Cct>Tct	p.P1426S	SAMD9L_uc003umj.1_Missense_Mutation_p.P1426S|SAMD9L_uc003umi.1_Missense_Mutation_p.P1426S|SAMD9L_uc010lfb.1_Missense_Mutation_p.P1426S|SAMD9L_uc003umk.1_Missense_Mutation_p.P1426S|SAMD9L_uc010lfc.1_Missense_Mutation_p.P1426S|SAMD9L_uc010lfd.1_Missense_Mutation_p.P1426S|SAMD9L_uc022ahh.1_Missense_Mutation_p.P1426S	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1426										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAGAAATAAGGACCTGGATAT	0.388000														91			67		0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72366380	72366380	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:72366380C>T	uc009zrw.1	+	5	831	c.690C>T	c.(688-690)ctC>ctT	p.L230L	TPH2_uc001swy.2_Silent_p.L140L	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	230					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)	TCTCCAAACTCTATCCCACTC	0.468000														326			63		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41005676	41005676	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:41005676G>A	uc003jmj.4	-	34	4311	c.3821C>T	c.(3820-3822)tCc>tTc	p.S1274F	HEATR7B2_uc003jmi.4_Missense_Mutation_p.S829F	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1274							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GTTCTCCGAGGAGGAGGTAAG	0.512000														8			10		0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77715665	77715665	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:77715665G>A	uc001xtf.2	+	20	2114	c.1902G>A	c.(1900-1902)acG>acA	p.T634T	TMEM63C_uc010asq.1_Silent_p.T634T	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	634						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)		AGCACTTGACGGATCGCTATA	0.542000														59			35		0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39804945	39804945	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:39804945G>A	uc002okw.2	-	0	1032	c.1032C>T	c.(1030-1032)tcC>tcT	p.S344S		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	344	Ig-like.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGGTCCGGCTGGAGTTCCCCA	0.687000														9			8		0	0	1	0	0
DHX33	56919	broad.mit.edu	37	17	5353685	5353685	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:5353685G>A	uc002gca.3	-	9	1767	c.1566C>T	c.(1564-1566)atC>atT	p.I522I	DHX33_uc002gbz.3_Silent_p.I293I|DHX33_uc002gcb.3_Silent_p.I349I|DHX33_uc010clf.3_Silent_p.I357I	NM_020162	NP_001186628	Q9H6R0	DHX33_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 33 (DHX33), transcript variant 1, mRNA.	522						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAATGGTCAGGATCTCCTCTG	0.502000														139			39		0	0	1	0	0
KRT34	3885	broad.mit.edu	37	17	39535885	39535886	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:39535885_39535886CC>TT	uc002hwm.3	-	3	824_825	c.812_813GG>AA	c.(811-813)agg>aAA	p.R271K		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	271	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CATACTGACTCCTGGTCTCGTT	0.599000														55			9		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22476212	22476212	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:22476212C>T	uc001wcu.4	+	1	246	c.148C>T	c.(148-150)Cgt>Tgt	p.R50C	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc021rpn.1_Missense_Mutation_p.R50C|TCRA_uc010tmm.2_Intron|TCRA_uc001wct.4_3'UTR					RecName: Full=T-cell receptor alpha chain V region HPB-MLT; Flags: Precursor; Fragment;																		GTATGAAACCCGTGATACTAC	0.418000														27			10		0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147228	52147228	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52147228G>A	uc002pxf.4	-	4	936	c.816C>T	c.(814-816)ctC>ctT	p.L272L		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA.	272	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		CTGTGCAGGCGAGGAACAGGG	0.617000														33			25		0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934891	113934891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:113934891C>T	uc001pop.3	+	1	1133	c.869C>T	c.(868-870)aCc>aTc	p.T290I	ZBTB16_uc001poo.1_Missense_Mutation_p.T290I|ZBTB16_uc001poq.3_Missense_Mutation_p.T290I	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	290					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGCGTCATCACCAGTGCTAGG	0.657000														16			14		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124297749	124297749	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:124297749C>T	uc001uft.4	+	18	2854	c.2829C>T	c.(2827-2829)tgC>tgT	p.C943C	DNAH10_uc010tav.1_Silent_p.C485C|DNAH10_uc010taw.1_Silent_p.C428C	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	943	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCATAGAATGCCCACCTCAGA	0.398000														40			5		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56204103	56204103	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:56204103G>A	uc002lhj.4	-	4	3530	c.3316C>T	c.(3316-3318)Ctg>Ttg	p.L1106L	ALPK2_uc002lhk.1_Silent_p.L437L	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1106							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						TCTCCAGACAGGTTATCAACC	0.517000														98			65		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109623478	109623478	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:109623478C>T	uc001tob.3	+	11	2032	c.1913C>T	c.(1912-1914)cCc>cTc	p.P638L	ACACB_uc001toc.3_Missense_Mutation_p.P638L	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	638	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TTTGAAACCCCCTCAAACCCT	0.572000														44			9		0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51980459	51980459	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:51980459G>A	uc002abh.3	+	4	803	c.400G>A	c.(400-402)Gat>Aat	p.D134N	SCG3_uc010ufz.2_5'UTR	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	134					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		CTGTCTAGATGATCCAGATGG	0.388000														28			9		0	0	1	0	0
OR5K4	403278	broad.mit.edu	37	3	98072718	98072718	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:98072718C>T	uc011bgv.2	+	0	21	c.21C>T	c.(19-21)tcC>tcT	p.S7S		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						AAAATCACTCCTTAGCAGCTG	0.408000														31			19		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241706377	241706377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:241706377C>T	uc010fzk.3	-	18	1886	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	KIF1A_uc002vzy.3_Missense_Mutation_p.E538K|KIF1A_uc002vzz.2_Missense_Mutation_p.E547K	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	538	FHA.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CAGTGCTCCTCCTTGATGAAG	0.647000														7			5		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80626770	80626770	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:80626770G>A	uc001szd.3	+	7	689	c.683G>A	c.(682-684)gGg>gAg	p.G228E		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GCTTGGGACGGGATATCTGGG	0.398000														35			16		0	0	1	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64127960	64127960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:64127960G>A	uc001oae.3	+	3	441	c.358G>A	c.(358-360)Ggc>Agc	p.G120S	RPS6KA4_uc001oad.3_Missense_Mutation_p.G120S|RPS6KA4_uc010rnl.2_Missense_Mutation_p.G57S|RPS6KA4_uc001oaf.3_Missense_Mutation_p.G120S|RPS6KA4_uc009ypp.3_Missense_Mutation_p.G120S	NM_003942	NP_003933	O75676	KS6A4_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 4 (RPS6KA4), transcript variant 1, mRNA.	120	Protein kinase 1.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CTATGTGAGCGGCGGGGAGAT	0.642000														9			3		0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	17983972	17983972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:17983972C>T	uc010gqw.1	+	5	668	c.668C>T	c.(667-669)tCc>tTc	p.S223F	CECR2_uc010gqv.1_Missense_Mutation_p.S102F|CECR2_uc002zml.2_Missense_Mutation_p.S102F|CECR2_uc002zmm.1_Missense_Mutation_p.S102F	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	265					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GAGAGGACCTCCCTTCGAGAA	0.572000														55			30		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117681160	117681160	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:117681160G>A	uc003pxp.1	-	22	3659	c.3460C>T	c.(3460-3462)Cct>Tct	p.P1154S	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1154					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATGAGGTGAGGAAATGGGTTG	0.348000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									8			11		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	384699	384699	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:384699G>A	uc003bot.3	+	7	1354	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	CHL1_uc003bou.3_Intron|CHL1_uc003bow.2_Intron|CHL1_uc011asi.2_Missense_Mutation_p.E238K	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	226	Ig-like C2-type 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTCATCCACAGAAATTGGTTC	0.338000														40			15		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73572526	73572526	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:73572526G>A	uc001jrx.4	+	66	9892	c.9502_splice	c.e66-1	p.G3168_splice	CDH23_uc001jsg.4_Splice_Site_p.G931_splice|CDH23_uc001jsh.4_Splice_Site_p.G931_splice|CDH23_uc001jsi.4_Splice_Site_p.G931_splice|CDH23_uc001jsj.4_Splice_Site_p.G68_splice|CDH23_uc010qjr.2_Splice_Site_p.G68_splice	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	3171					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCTCCCCAGGGAACTTTTGGG	0.582000														11			5		0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132196698	132196698	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:132196698G>A	uc003eor.3	+	22	2576	c.2511G>A	c.(2509-2511)gaG>gaA	p.E837E		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	837							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TACTATTGGAGGAAGATGAGA	0.343000														88			44		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6828179	6828179	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:6828179C>T	uc002mfu.1	+	9	1117	c.1020C>T	c.(1018-1020)ctC>ctT	p.L340L	VAV1_uc010xjh.1_Silent_p.L308L|VAV1_uc010dva.1_Silent_p.L340L|VAV1_uc002mfv.1_Silent_p.L285L	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	340	DH.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	p.L339L(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						ACCTCCTTCTCCAGGTGCCAG	0.572000														30			13		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170151129	170151129	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:170151129G>A	uc002ues.3	-	4	732	c.519C>T	c.(517-519)tcC>tcT	p.S173S	LRP2_uc010zdf.1_Silent_p.S173S	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	173	LDL-receptor class A 4.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTTCATCTGAGGAGTCCCTGC	0.428000														36			14		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87655989	87655989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:87655989C>T	uc003ydx.3	-	9	1216	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	CNGB3_uc010maj.3_Missense_Mutation_p.E252K	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	390					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCGTTTCCTTCCCCATCATAC	0.348000														39			13		0	0	1	0	0
LY6G6F	259215	broad.mit.edu	37	6	31685475	31685475	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:31685475G>A	uc003nwb.1	+	5	1043	c.1043G>A	c.(1042-1044)gGa>gAa	p.G348E	LY6G6F_uc003nwf.1_Missense_Mutation_p.G99E|LY6G6F_uc003nwg.1_Missense_Mutation_p.G78E	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6F (LY6G6F), mRNA.	0						integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						TGCTACCTGGGAGACCTGTGC	0.607000														489			248		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754297	49754297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:49754297C>T	uc003ozu.3	-	0	757	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	202					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					ACTGGGTTTTCCAAGGCTTTA	0.448000														90			13		0	0	1	0	0
MGAT5	4249	broad.mit.edu	37	2	135095839	135095839	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:135095839C>T	uc002ttw.4	+	5	800	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA.	219					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)		GGCGGAAATTCGTACAGATTT	0.368000														30			9		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283485	159283485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:159283485G>A	uc010piu.2	-	0	965	c.965C>T	c.(964-966)tCc>tTc	p.S322F		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAACGCAAAGGAAAAGCCTTC	0.388000														57			53		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69002929	69002929	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:69002929G>A	uc003xxv.1	+	19	2256	c.2229G>A	c.(2227-2229)agG>agA	p.R743R	PREX2_uc003xxu.1_Silent_p.R743R|PREX2_uc011lez.1_Silent_p.R678R	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	743	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGCCTGCAGGAAGTACAGGC	0.498000														49			16		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101763609	101763609	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:101763609C>T	uc001tia.1	+	48	6651	c.6495C>T	c.(6493-6495)gaC>gaT	p.D2165D		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	2165					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGCTGAAGGACTATGCAAAGC	0.512000														16			99		0	0	1	0	0
STK32B	55351	broad.mit.edu	37	4	5458575	5458575	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:5458575C>T	uc003gih.1	+	7	772	c.708C>T	c.(706-708)atC>atT	p.I236I	STK32B_uc010ida.1_Silent_p.I189I	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	Homo sapiens serine/threonine kinase 32B (STK32B), mRNA.	236	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						TCGATGAAATCCTCAACATGT	0.572000														2			6		0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63283741	63283741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:63283741G>A	uc001nxc.2	+	8	1231	c.890G>A	c.(889-891)gGa>gAa	p.G297E	LGALS12_uc001nxa.2_Missense_Mutation_p.G296E|LGALS12_uc001nxb.2_Missense_Mutation_p.G287E|LGALS12_uc001nxd.2_Missense_Mutation_p.G235E|LGALS12_uc001nxe.2_Missense_Mutation_p.G226E|LGALS12_uc009yot.2_Missense_Mutation_p.G256E	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	296	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						TTCCAGGAGGGAGGGCTGAAG	0.632000														53			10		0	0	1	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959630	45959630	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:45959630G>A	uc002zfh.1	-	0	449	c.404C>T	c.(403-405)tCc>tTc	p.S135F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA.	135	24 X 5 AA repeats of C-C-X(3).|Poly-Ser.					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CTGGCTGGAGGAAGAGGCACA	0.587000														109			21		0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218696248	218696248	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:218696248G>A	uc002vgt.2	-	19	3326	c.2928C>T	c.(2926-2928)gcC>gcT	p.A976A	TNS1_uc002vgr.2_Silent_p.A976A|TNS1_uc002vgs.2_Silent_p.A976A|TNS1_uc010zjv.1_Silent_p.A976A	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	976						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGGGTGTCTTGGCCAGACCCG	0.647000														8			8		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418034	105418034	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:105418034G>A	uc010axc.1	-	6	3874	c.3754C>T	c.(3754-3756)Cct>Tct	p.P1252S	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P1152S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1252						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTCAAACTAGGCATCTGCACC	0.627000														96			93		0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180579	124180579	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:124180579G>A	uc010sag.2	-	0	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GGAACAGGAGGAAGAGGGGCA	0.473000														32			14		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101997716	101997716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:101997716C>T	uc001vox.1	-	6	889	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	NALCN_uc001voy.3_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.E234K|NALCN_uc001vpa.2_Missense_Mutation_p.E234K	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	234						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)					TAGCCTTCTTCTAGCTCTGGT	0.438000														63			23		0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790355	4790355	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:4790355G>A	uc010qyl.2	-	0	793	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	265						integral to membrane	olfactory receptor activity	p.R265C(2)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CGACCATAGCGATACACCAAG	0.512000														43			12		0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664489	169664489	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:169664489C>T	uc011bpp.2	-	1		c.3314G>A								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		CATACTTTTTCCTCTGCAAGG	0.522000														50			14		0	0	1	0	0
SDC4	6385	broad.mit.edu	37	20	43959098	43959098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:43959098G>A	uc002xnu.3	-	3	393	c.353C>T	c.(352-354)cCc>cTc	p.P118L	SDC4_uc010zws.2_Missense_Mutation_p.P46L	NM_002999	NP_002990	P31431	SDC4_HUMAN	Homo sapiens syndecan 4 (SDC4), mRNA.	118						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				CTCTTCAACGGGTGAGATTCT	0.527000			T	ROS1	NSCLC									35			37		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411754	51411754	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:51411754G>A	uc001nhi.2	-	0	695	c.642C>T	c.(640-642)tcC>tcT	p.S214S		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I213I(1)		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)				TGACTCCATAGGAGATTAACA	0.448000														34			6		0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37309285	37309285	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:37309285G>A	uc003jku.1	-	23	2831	c.2713C>T	c.(2713-2715)Caa>Taa	p.Q905*	NUP155_uc003jkt.1_Nonsense_Mutation_p.Q846*|NUP155_uc010iuz.1_Nonsense_Mutation_p.Q841*	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	905					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTAATTTTTTGATATTCCTTT	0.343000														42			7		0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16436260	16436260	+	Silent	SNP	C	T	T	rs144681255		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:16436260C>T	uc003zml.3	-	5	2072	c.1932G>A	c.(1930-1932)aaG>aaA	p.K644K	BNC2_uc011lmw.2_Silent_p.K549K|BNC2_uc003zmm.3_Silent_p.K602K|BNC2_uc003zmq.1_Silent_p.K658K|BNC2_uc003zmr.1_Silent_p.K681K|BNC2_uc003zmp.1_Silent_p.K672K|BNC2_uc010mij.1_Silent_p.K566K|BNC2_uc011lmv.2_Silent_p.K470K|BNC2_uc003zmo.1_Silent_p.K566K|BNC2_uc003zmj.3_Silent_p.K409K|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Silent_p.K409K|BNC2_uc003zmn.1_Silent_p.K409K	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	644					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	p.E643K(1)|p.E643E(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CAATAATTTCCTTCTCAATCT	0.488000														30			27		0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39772134	39772135	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:39772134_39772135CC>TT	uc003axr.3	+	1	1975_1976	c.193_194CC>TT	c.(193-195)cca>TTa	p.P65L	TAB1_uc003axo.4_Missense_Mutation_p.P139L|TAB1_uc003axq.4_Missense_Mutation_p.P139L|TAB1_uc003axs.4_Missense_Mutation_p.P140L	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, 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						CAAGGACAACCCACTGAACGAA	0.634000														106			26		0	0	1	0	0
FLJ38723	0	broad.mit.edu	37	15	62538816	62538816	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:62538816C>T	uc002ajj.1	-	5	491	c.483G>A	c.(481-483)ccG>ccA	p.P161P	FLJ38723_uc002ain.1_Non-coding_Transcript|DQ570129_uc021sod.1_5'Flank|DQ590273_uc002ajq.3_5'Flank|DQ574151_uc002ajr.2_5'Flank|DQ584931_uc021soe.1_5'Flank|DQ575559_uc010uhp.1_5'Flank|DQ572791_uc002ajt.3_5'Flank|DQ583624_uc021sof.1_5'Flank|DQ596164_uc021sog.1_5'Flank|DQ590682_uc002ajw.3_5'Flank|DQ578824_uc010uhq.2_5'Flank|DQ573543_uc002ajx.3_5'Flank|DQ596057_uc002ajy.3_5'Flank					RecName: Full=Golgin subfamily A member 2-like protein 4;																		TGCTCCACTTCGGAGGGCCCT	0.562000														3			7		0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219251363	219251363	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:219251363C>T	uc002vhv.3	+	4	739	c.399C>T	c.(397-399)ccC>ccT	p.P133P	SLC11A1_uc010zkb.1_Missense_Mutation_p.P158L|SLC11A1_uc010fvp.1_Silent_p.P133P|SLC11A1_uc010fvq.1_Silent_p.P66P|SLC11A1_uc010zkc.1_Silent_p.P66P|SLC11A1_uc002vhu.1_5'UTR|SLC11A1_uc002vhw.3_Silent_p.P15P|SLC11A1_uc010fvr.3_5'UTR	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	133					L-arginine import|MHC class II biosynthetic process|T cell cytokine production|T cell proliferation involved in immune response|activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|mRNA stabilization|macrophage activation|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATAGGTGCCCCGCACCGTCC	0.537000														11			6		0	0	1	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767834	143767834	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:143767834G>A	uc001ejt.3	-	0	48	c.15C>T	c.(13-15)gtC>gtT	p.V5V		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	5					protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						CAAAAAAGATGACGGAGTTGA	0.478000														194			16		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81660637	81660637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:81660637C>T	uc021ssk.1	-	2	269	c.269G>A	c.(268-270)gGg>gAg	p.G90E	TMC3_uc021ssj.1_Missense_Mutation_p.G90E|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.G90E	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	90						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GGTCAGCCTCCCTTCAAACTT	0.473000														113			66		0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94909542	94909542	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:94909542G>A	uc001ydd.1	-	3	998	c.938C>T	c.(937-939)cCa>cTa	p.P313L		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	313					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TGAAAACCTTGGCAAGTGCAA	0.453000														34			24		0	0	1	0	0
CASP14	23581	broad.mit.edu	37	19	15166846	15166846	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:15166846G>A	uc010dzv.2	+	6	887	c.675G>A	c.(673-675)agG>agA	p.R225R		NM_012114	NP_036246	P31944	CASPE_HUMAN	Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA.	225					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	p.A224P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						GAAAAGCAAGGAAAACGAACC	0.512000														9			7		0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238844	48238844	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:48238844C>T	uc010rhs.2	+	0	483	c.483C>T	c.(481-483)atC>atT	p.I161I		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TTCTCGTTATCATCCAATTGC	0.473000														80			15		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279796	152279796	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152279796T>C	uc001ezu.1	-	2	7602	c.7566A>G	c.(7564-7566)caA>caG	p.Q2522Q		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2522	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTCTCCTGATTGTTCATCGT	0.587000									Ichthyosis					251			279		0	0	1	0	0
FAM22F	54754	broad.mit.edu	37	9	97084565	97084565	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:97084565C>T	uc004aup.1	-	2	781	c.760G>A	c.(760-762)Gag>Aag	p.E254K		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	254										central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				AGTCCCTCCTCCAGCGTCATG	0.617000														14			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179453500	179453500	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179453500C>T	uc021vsy.1	-	252	55473	c.55248G>A	c.(55246-55248)tgG>tgA	p.W18416*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W12111*|TTN_uc021vta.1_Nonsense_Mutation_p.W12044*|TTN_uc021vtb.1_Nonsense_Mutation_p.W11919*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19343	Fibronectin type-III 33.						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)			CAGGTGGATTCCAAACCACAG	0.418000														37			15		0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551788	248551788	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248551788G>A	uc001iei.1	+	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L292L(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGTCTGAGGAACAGGGATG	0.458000														35			37		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82532040	82532040	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:82532040C>T	uc003uhx.2	-	8	13744	c.13455G>A	c.(13453-13455)ggG>ggA	p.G4485G	PCLO_uc003uhv.2_Silent_p.G4485G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4416					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						GCATAGTTTTCCCGTTCATCT	0.313000														47			14		0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132196696	132196696	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:132196696G>A	uc003eor.3	+	22	2574	c.2509G>A	c.(2509-2511)Gag>Aag	p.E837K		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	837							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATTACTATTGGAGGAAGATGA	0.343000														89			45		0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133967467	133967467	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:133967467G>A	uc001lkx.4	+	17	2187	c.2187G>A	c.(2185-2187)cgG>cgA	p.R729R	JAKMIP3_uc009yba.1_Silent_p.R166R	NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGGACTACCGGAAACAGGCCT	0.627000														48			13		0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57472382	57472382	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:57472382C>T	uc003pdx.3	+	12	1255	c.1168C>T	c.(1168-1170)Cca>Tca	p.P390S		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	391					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TCACAGTGATCCAGAGCTGCT	0.458000														38			8		0	0	1	0	0
ZGLP1	100125288	broad.mit.edu	37	19	10416141	10416141	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:10416141G>A	uc002mnw.4	-	2	1499	c.623C>T	c.(622-624)tCc>tTc	p.S208F	FDX1L_uc002mnx.1_Non-coding_Transcript	NM_001103167	NP_001096637	P0C6A0	ZGLP1_HUMAN	Homo sapiens zinc finger, GATA-like protein 1 (ZGLP1), mRNA.	208					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						GGTCCGACAGGAAGCACAGCG	0.617000														5			4		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94539710	94539710	+	Silent	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:94539710T>A	uc003unp.3	+	1	567	c.285T>A	c.(283-285)tcT>tcA	p.S95S	PPP1R9A_uc010lfj.3_Silent_p.S95S|PPP1R9A_uc011kif.2_Silent_p.S95S|PPP1R9A_uc003unq.3_Silent_p.S95S|PPP1R9A_uc011kig.2_Silent_p.S95S	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	95	Actin-binding.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GACATTCATCTCCTCAGAGAA	0.398000										HNSCC(28;0.073)				60			8		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174724	63174724	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:63174724C>T	uc001xfx.3	-	10	2520	c.2469G>A	c.(2467-2469)gaG>gaA	p.E823E	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	823					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTTCCTTTTTCTCCTCATGGG	0.438000														108			27		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100696408	100696408	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:100696408C>T	uc003uxp.1	+	9	13298	c.13245C>T	c.(13243-13245)cgC>cgT	p.R4415R	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4415						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)					TCGTTTTCCGCTCCAAGAGAG	0.577000														30			12		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20552460	20552460	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:20552460G>A	uc003gpr.1	+	24	2704	c.2500G>A	c.(2500-2502)Gga>Aga	p.G834R	SLIT2_uc003gps.1_Missense_Mutation_p.G826R	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	834					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTCTCTACATGGAAATGACAT	0.328000														20			9		0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41704620	41704620	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:41704620G>A	uc002opw.3	+	4	716	c.661G>A	c.(661-663)Gag>Aag	p.E221K	CYP2S1_uc010xvx.2_Intron	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	221					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						ACAGACCTACGAGATGTTCTC	0.627000														104			23		0	0	1	0	0
GJD2	57369	broad.mit.edu	37	15	35045159	35045159	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:35045159C>T	uc001zis.1	-	1	486	c.486G>A	c.(484-486)aaG>aaA	p.K162K	AK092087_uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.	162					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GCTCTGTCTCCTTACTGGTGT	0.507000														188			56		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30931614	30931614	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:30931614C>T	uc003tbt.3	+	17	2345	c.2268C>T	c.(2266-2268)atC>atT	p.I756I	FAM188B_uc010kwe.3_Silent_p.I727I|FAM188B_uc011kac.1_Intron|FAM188B_uc003tbu.3_Silent_p.I276I	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	756										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGACCCCATCCTGTGACCGT	0.557000														93			174		0	0	1	0	0
ORC6	23594	broad.mit.edu	37	16	46731411	46731411	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:46731411G>A	uc002eeh.3	+	6	733	c.673G>A	c.(673-675)Gat>Aat	p.D225N	ORC6_uc021thp.1_Missense_Mutation_p.D176N	NM_014321	NP_055136	Q9Y5N6	ORC6_HUMAN	Homo sapiens origin recognition complex, subunit 6 (ORC6), transcript variant 1, mRNA.	225					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	nuclear origin of replication recognition complex|nucleoplasm	DNA binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8						ACCACAGAAAGATGAAGATCT	0.343000														3			11		0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962703	69962703	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:69962703C>T	uc003heg.4	+	0	511	c.465C>T	c.(463-465)ccC>ccT	p.P155P	UGT2B7_uc010ihq.3_Silent_p.P155P	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	155					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.F154Y(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTATTTTTCCCTGTAGTGAGC	0.353000														35			26		0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861600	55861600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55861600G>A	uc010rix.2	+	0	817	c.817G>A	c.(817-819)Gca>Aca	p.A273T		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A273S(2)		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)					GGCGCAGGTGGCATCTGTATT	0.443000														48			42		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129904029	129904029	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:129904029G>A	uc001lke.3	-	12	6270	c.6075C>T	c.(6073-6075)acC>acT	p.T2025T	MKI67_uc001lkf.3_Silent_p.T1665T|MKI67_uc009yav.1_Silent_p.T1600T|MKI67_uc009yaw.1_Silent_p.T1175T	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2025	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTGTCTGTGTGGTCTTCCCTG	0.498000														219			48		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89949562	89949562	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:89949562G>A	uc003kju.3	+	19	4267	c.4171G>A	c.(4171-4173)Gaa>Aaa	p.E1391K	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1391					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	p.E1391K(2)		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)		ACAAACAAACGAATCCCATGT	0.393000														5			9		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118199270	118199270	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:118199270C>T	uc001two.2	-	3	500	c.445G>A	c.(445-447)Gag>Aag	p.E149K		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	178					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)					GGATTGTTCTCCTTCCCCGTC	0.597000														88			21		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13418659	13418659	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:13418659G>A	uc002mwy.3	-	14	2159	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	CACNA1A_uc010dzc.2_Silent_p.F167F|CACNA1A_uc010xnd.2_Silent_p.F641F|CACNA1A_uc021ups.1_Silent_p.F641F|CACNA1A_uc010xne.2_Silent_p.F641F|CACNA1A_uc010dze.2_Silent_p.F641F|CACNA1A_uc021upt.1_Silent_p.F642F	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	642					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCCCTTCATCGAAATTAAACC	0.547000														50			41		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152404231	152404231	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:152404231G>A	uc021vrb.1	-	102	15105	c.15076C>T	c.(15076-15078)Cac>Tac	p.H5026Y	NEB_uc002txr.3_Missense_Mutation_p.H1492Y|NEB_uc002txu.3_Missense_Mutation_p.H6727Y|NEB_uc021vrc.1_Missense_Mutation_p.H6727Y|NEB_uc010fnx.3_Missense_Mutation_p.H5014Y|NEB_uc021vrd.1_Missense_Mutation_p.H5026Y	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5026					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCAGTTTGTGGTACAATTCC	0.438000														17			6		0	0	1	0	0
ZNF205	7755	broad.mit.edu	37	16	3165421	3165421	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:3165421G>A	uc002cub.3	+	2	258	c.123G>A	c.(121-123)ggG>ggA	p.G41G	MGC3771_uc010btd.2_5'Flank|MGC3771_uc010bte.2_Non-coding_Transcript|MGC3771_uc002ctz.3_Non-coding_Transcript|ZNF205_uc002cua.3_Silent_p.G41G	NM_001042428	NP_003447	O95201	ZN205_HUMAN	Homo sapiens zinc finger protein 205 (ZNF205), transcript variant 2, mRNA.	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						TACCTTCAGGGGACACTCAGG	0.592000														48			17		0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171544123	171544123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:171544123C>T	uc010pmg.2	+	24	7071	c.6805C>T	c.(6805-6807)Cca>Tca	p.P2269S	PRRC2C_uc010pmh.2_Missense_Mutation_p.P1181S|PRRC2C_uc010pmi.2_Missense_Mutation_p.P106S	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	2269							protein C-terminus binding										AAAGGGGTCTCCAGTAACTTC	0.433000														25			7		0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154645528	154645528	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:154645528G>A	uc003wlk.3	+	16	1834	c.1705G>A	c.(1705-1707)Gat>Aat	p.D569N	DPP6_uc003wli.3_Missense_Mutation_p.D505N|DPP6_uc003wlm.3_Missense_Mutation_p.D507N|DPP6_uc011kvq.2_Missense_Mutation_p.D462N	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	569					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CAACACAACAGATAAGAAAAG	0.428000														43			23		0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147113783	147113783	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:147113783C>T	uc011bno.2	-	2	880	c.694G>A	c.(694-696)Gga>Aga	p.G232R	ZIC4_uc003ewc.2_Missense_Mutation_p.G112R|ZIC4_uc021xff.1_Missense_Mutation_p.G220R|ZIC4_uc003ewd.2_Missense_Mutation_p.G182R|ZIC4_uc021xfg.1_Intron	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	182						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AAGGGCTTTCCCTGGCGCGGA	0.597000														64			113		0	0	1	0	0
FAM150A	389658	broad.mit.edu	37	8	53452456	53452456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:53452456G>A	uc003xrd.3	-	2	465	c.260C>T	c.(259-261)tCa>tTa	p.S87L	FAM150A_uc011ldt.2_Missense_Mutation_p.S87L	NM_207413	NP_997296	Q6UXT8	F150A_HUMAN	Homo sapiens family with sequence similarity 150, member A (FAM150A), mRNA.	87						extracellular region				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				GCATTCTGGTGAAAATGTGAC	0.383000														33			30		0	0	1	0	0
EIF4H	7458	broad.mit.edu	37	7	73609501	73609501	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:73609501G>C	uc003uad.1	+	6	618	c.610G>C	c.(610-612)Gaa>Caa	p.E204Q	EIF4H_uc003uae.1_Missense_Mutation_p.E184Q	NM_022170	NP_071496	Q15056	IF4H_HUMAN	Homo sapiens eukaryotic translation initiation factor 4H (EIF4H), transcript variant 1, mRNA.	204					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						TCCCCCAGAGGAAAGAGCACA	0.522000														64			10		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19726083	19726083	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:19726083G>A	uc002ykw.3	-	8	1009	c.978C>T	c.(976-978)ggC>ggT	p.G326G		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	326	CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTGCATTAAAGCCAACATAAT	0.303000														50			37		0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777295	123777295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:123777295C>T	uc010saa.2	+	0	157	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TAGGCTGAATCGTCAACTTCA	0.408000														10			63		0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19575316	19575316	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:19575316G>A	uc003cbk.1	+	15	3244	c.3049G>A	c.(3049-3051)Gat>Aat	p.D1017N	KCNH8_uc010hex.1_Missense_Mutation_p.D478N	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	1017	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TCCACATTCAGATTCTACGTT	0.443000														120			70		0	0	1	0	0
SEPT9	10801	broad.mit.edu	37	17	75398213	75398213	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:75398213C>T	uc002jts.4	+	2	275	c.149C>T	c.(148-150)cCc>cTc	p.P50L	SEPT9_uc010wtk.2_Missense_Mutation_p.P31L|SEPT9_uc002jtt.4_5'UTR|SEPT9_uc002jtu.4_Missense_Mutation_p.P32L|SEPT9_uc002jtv.3_Missense_Mutation_p.P43L|SEPT9_uc002jtw.3_5'UTR|SEPT9_uc002jtx.1_5'UTR|SEPT9_uc010wtl.2_5'Flank	NM_001113491	NP_001106968	Q9UHD8	SEPT9_HUMAN	Homo sapiens septin 9 (SEPT9), transcript variant 1, mRNA.	50					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GTCCAGACTCCCCTACTCCGA	0.567000														50			11		0	0	1	0	0
TOP1	7150	broad.mit.edu	37	20	39729898	39729898	+	Silent	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:39729898C>A	uc002xjl.3	+	12	1459	c.1213C>A	c.(1213-1215)Cgg>Agg	p.R405R	BC035080_uc002xjn.1_Non-coding_Transcript	NM_003286	NP_003277	P11387	TOP1_HUMAN	Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	405					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	GAAAGAAGTCCGGCATGATAA	0.423000			T	NUP98	AML*									34			27		1.50538e-07	1.51188e-07	1	1	0
GDPD4	220032	broad.mit.edu	37	11	76956394	76956394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:76956394G>A	uc001oyf.3	-	10	1269	c.1018C>T	c.(1018-1020)Cct>Tct	p.P340S		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	340	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TGTCTGAGAGGATGTTTTGGT	0.393000														73			16		0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100341729	100341729	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:100341729C>T	uc003huv.2	-	5	1063	c.822G>A	c.(820-822)gtG>gtA	p.V274V	ADH7_uc021xqj.1_Silent_p.V282V	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	274					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	AGGTGTATCCCACGTTGTTGC	0.448000														68			11		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089701	86089701	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:86089701G>A	uc021rxf.1	+	0	1843	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	FLRT2_uc001xvr.3_Missense_Mutation_p.D615N|FLRT2_uc010atd.3_Missense_Mutation_p.D615N	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	615					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTTAAATAACGATCAACTCCT	0.473000														189			59		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33360016	33360016	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:33360016A>T	uc021vft.1	+	4	1213	c.1190A>T	c.(1189-1191)aAc>aTc	p.N397I	LTBP1_uc002rou.3_Missense_Mutation_p.N71I|LTBP1_uc002rov.3_Missense_Mutation_p.N71I|LTBP1_uc010ymz.2_Missense_Mutation_p.N71I|LTBP1_uc010yna.2_Missense_Mutation_p.N71I	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	397					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACGGCCACGAACTTCCGAGTG	0.532000														20			4		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35745412	35745412	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:35745412G>A	uc021rid.1	+	25	4780	c.4246G>A	c.(4246-4248)Gaa>Aaa	p.E1416K	NBEA_uc021ric.1_Missense_Mutation_p.E1413K|NBEA_uc010abi.3_Missense_Mutation_p.E104K	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1416						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTAAAGACGGAATTGGAAAA	0.333000														17			12		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993437	140993437	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:140993437C>T	uc004fbt.3	+	3	571	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	83							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAGATTCCCCAGAGTTC	0.572000										HNSCC(15;0.026)				41			33		0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156395752	156395752	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:156395752T>G	uc003fav.3	+	1	688	c.266T>G	c.(265-267)aTg>aGg	p.M89R	TIPARP-AS1_uc011boq.2_5'Flank|TIPARP_uc003faw.3_Missense_Mutation_p.M89R|TIPARP_uc021xgg.1_Missense_Mutation_p.M89R	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.	89							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CATGAACCTATGATGAAGAAA	0.408000														35			59		0	0	1	0	0
NACA2	342538	broad.mit.edu	37	17	59668299	59668299	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:59668299G>A	uc002izj.2	-	0	265	c.243C>T	c.(241-243)tcC>tcT	p.S81S		NM_199290	NP_954984	Q9H009	NACA2_HUMAN	Homo sapiens nascent polypeptide-associated complex alpha subunit 2 (NACA2), mRNA.	81	NAC-A/B.				protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					GACCCAGTTTGGACATAGCCT	0.458000														255			61		0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83037700	83037700	+	Silent	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:83037700A>G	uc003uhy.2	-	5	1275	c.654T>C	c.(652-654)gaT>gaC	p.D218D	SEMA3E_uc022agy.1_Silent_p.D158D	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	218	Sema.				axon guidance	extracellular space|membrane	receptor activity	p.D217D(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ACAGACGCTCATCGTCATGCT	0.443000														27			29		0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	50149706	50149706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:50149706C>T	uc002itv.4	-	2	863	c.127G>A	c.(127-129)Gag>Aag	p.E43K	CA10_uc002itw.4_Missense_Mutation_p.E37K|CA10_uc002itx.4_Missense_Mutation_p.E37K|CA10_uc002ity.4_Missense_Mutation_p.E37K|CA10_uc002itz.2_Missense_Mutation_p.E37K	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	37					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TGGACCACCTCCTTGTATGCC	0.368000														75			15		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179484381	179484381	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179484381C>T	uc021vsy.1	-	198	39184	c.38959G>A	c.(38959-38961)Gac>Aac	p.D12987N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D6682N|TTN_uc021vta.1_Missense_Mutation_p.D6615N|TTN_uc021vtb.1_Missense_Mutation_p.D6490N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13914	Ig-like 86.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTCTTTGTCTTTGGCAATA	0.388000														52			28		0	0	1	0	0
CLPSL1	340204	broad.mit.edu	37	6	35755682	35755682	+	Silent	SNP	G	A	A	rs141726973		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:35755682G>A	uc003old.4	+	2	318	c.261G>A	c.(259-261)cgG>cgA	p.R87R		NM_001010886	NP_001010886	A2RUU4	CF127_HUMAN	Homo sapiens chromosome 6 open reading frame 127 (C6orf127), mRNA.	87					digestion|lipid catabolic process	extracellular region	enzyme activator activity	p.R87R(1)									CCTGCCTGCGGAACCTGACTT	0.493000														94			25		0	0	1	0	0
FBF1	85302	broad.mit.edu	37	17	73921466	73921466	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:73921466G>A	uc002jqc.3	-	11	1162	c.888C>T	c.(886-888)gtC>gtT	p.V296V	FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Silent_p.V286V|FBF1_uc002jqd.1_Silent_p.V296V	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.	296										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						CCTCAGAGGAGACCACAGTGG	0.597000														33			10		0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10503755	10503755	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:10503755C>T	uc001min.1	+	3	944	c.599C>T	c.(598-600)cCg>cTg	p.P200L	AMPD3_uc010rbz.1_Missense_Mutation_p.P32L|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc009yfx.1_Missense_Mutation_p.P191L|AMPD3_uc001mio.1_Missense_Mutation_p.P191L|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.P198L|AMPD3_uc009yfy.2_Missense_Mutation_p.P191L	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	191					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		ACTGCACCTCCGGAAGAGGGC	0.607000														40			35		0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912739	94912739	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:94912739C>T	uc001ydd.1	-	2	906	c.846G>A	c.(844-846)ggG>ggA	p.G282G		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	282					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GCTTCATTTTCCCCGGGTCAG	0.547000														70			58		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148069078	148069078	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:148069078G>A	uc004fcp.3	+	19	4284	c.3805G>A	c.(3805-3807)Gaa>Aaa	p.E1269K	AFF2_uc004fcq.3_Missense_Mutation_p.E1259K|AFF2_uc004fcr.3_Missense_Mutation_p.E1230K|AFF2_uc011mxb.2_Missense_Mutation_p.E1234K|AFF2_uc004fcs.3_Missense_Mutation_p.E1234K|AFF2_uc011mxc.2_Missense_Mutation_p.E910K	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1269					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACTGACAAGAGAAAACAAAGG	0.468000														2			62		0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10738439	10738439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:10738439C>T	uc002mpf.3	+	2	267	c.128C>T	c.(127-129)gCc>gTc	p.A43V	SLC44A2_uc002mpe.4_Missense_Mutation_p.A41V	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	43					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CTGCTCCTGGCCATTGTGGGC	0.597000														67			28		0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119345519	119345519	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:119345519C>T	uc003pyj.3	-	1	967	c.619G>A	c.(619-621)Gat>Aat	p.D207N	FAM184A_uc003pyk.4_Missense_Mutation_p.D87N|FAM184A_uc003pyl.4_Missense_Mutation_p.D87N	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	207										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCACTGTGATCCTGCTGTGAC	0.443000														25			21		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124335982	124335983	+	Silent	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:124335982_124335983CC>TT	uc001lgk.1	+	6	457_458	c.351_352CC>TT	c.(349-354)atccta>atTTta	p.117_118IL>IL	DMBT1_uc001lgl.1_Silent_p.117_118IL>IL|DMBT1_uc001lgm.1_Silent_p.117_118IL>IL|DMBT1_uc021qaf.1_Silent_p.117_118IL>IL|DMBT1_uc021qag.1_Silent_p.117_118IL>IL|DMBT1_uc021qah.1_Silent_p.117_118IL>IL|DMBT1_uc009xzz.1_Silent_p.117_118IL>IL|DMBT1_uc010qtx.1_Silent_p.117_118IL>IL|DMBT1_uc009yaa.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	117	SRCR 1.				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)				GAGTGGAGATCCTATACCGAGG	0.564000														110			45		0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66205150	66205150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:66205150C>T	uc011dxu.1	-	3	692	c.154G>A	c.(154-156)Gac>Aac	p.D52N	EYS_uc003peq.3_Missense_Mutation_p.D52N|EYS_uc003per.1_Missense_Mutation_p.D52N|EYS_uc021zbn.1_Missense_Mutation_p.D52N|EYS_uc010kaj.1_Non-coding_Transcript	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	52					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTGTAGAAGTCCAAGCAGATG	0.398000														65			14		0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798447	55798447	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55798447C>T	uc010riw.2	+	0	553	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CCCACCTCTTCTGGCTTTATC	0.418000														126			96		0	0	1	0	0
KIF18A	81930	broad.mit.edu	37	11	28080652	28080652	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:28080652G>A	uc001msc.2	-	12	1951	c.1769C>T	c.(1768-1770)gCc>gTc	p.A590V	JA429044_uc021qfh.1_5'Flank	NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	Homo sapiens kinesin family member 18A (KIF18A), mRNA.	590					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	ATP binding|actin binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TGACAGGCCGGCTTCTTTTAA	0.373000														109			29		0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24880359	24880359	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:24880359A>T	uc003sxf.3	-	13	1850	c.1445T>A	c.(1444-1446)cTt>cAt	p.L482H	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Missense_Mutation_p.L446H|OSBPL3_uc003sxh.3_Missense_Mutation_p.L451H|OSBPL3_uc003sxi.3_Missense_Mutation_p.L415H|OSBPL3_uc003sxj.1_Missense_Mutation_p.L211H|OSBPL3_uc003sxk.1_Missense_Mutation_p.L180H	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	482					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ATCTAAGGAAAGATTATCACT	0.294000														31			14		0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845751	107845751	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:107845751C>T	uc003hyi.3	-	2	1185	c.480G>A	c.(478-480)ttG>ttA	p.L160L	DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Silent_p.L160L	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	160					Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TCTGCCATCCCAAGTCATGGT	0.423000														97			12		0	0	1	0	0
ZNF137P	7696	broad.mit.edu	37	19	53100490	53100490	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53100490C>T	uc002pzt.3	+	0		c.554C>T								Homo sapiens zinc finger protein 137, pseudogene (ZNF137P), non-coding RNA.																		TAGGAGAATTCATACAGGAGA	0.408000														13			4		0	0	1	0	0
CTRB2	440387	broad.mit.edu	37	16	75238062	75238062	+	Missense_Mutation	SNP	G	T	T	rs34824152		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:75238062G>T	uc002fdr.3	-	6	822	c.789C>A	c.(787-789)aaC>aaA	p.N263K		NM_001025200	NP_001020371	Q6GPI1	CTRB2_HUMAN	Homo sapiens chymotrypsinogen B2 (CTRB2), mRNA.	263					digestion|proteolysis	extracellular space	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|lung(2)	4						TGCGGGCTCAGTTGGCGGCCA	0.607000														8			30		6.50621e-10	6.54657e-10	1	1	0
CENPJ	55835	broad.mit.edu	37	13	25458130	25458130	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:25458130G>A	uc001upt.4	-	15	4048	c.3795C>T	c.(3793-3795)ttC>ttT	p.F1265F	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	1265					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TACCATCTGGGAAAATGCTTT	0.398000														4			31		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58109198	58109198	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:58109198G>A	uc003djj.2	+	20	3670	c.3505G>A	c.(3505-3507)Gaa>Aaa	p.E1169K	FLNB_uc010hne.2_Missense_Mutation_p.E1169K|FLNB_uc003djk.2_Missense_Mutation_p.E1169K|FLNB_uc010hnf.2_Missense_Mutation_p.E1169K|FLNB_uc003djl.2_Missense_Mutation_p.E1000K|FLNB_uc003djm.2_Missense_Mutation_p.E1000K	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1169	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCTGGGCCTGGAAGCTGTCTC	0.627000														60			40		0	0	1	0	0
RGL3	57139	broad.mit.edu	37	19	11508206	11508206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:11508206G>A	uc002mro.2	-	16	1896	c.1832C>T	c.(1831-1833)cCc>cTc	p.P611L	RGL3_uc002mrn.2_Missense_Mutation_p.P369L|RGL3_uc002mrm.2_Missense_Mutation_p.P369L|RGL3_uc002mrp.2_Missense_Mutation_p.P605L	NM_001161616	NP_001155088	Q3MIN7	RGL3_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 3 (RGL3), transcript variant 1, mRNA.	605					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CGCCGGGAGGGGGATTCGAGG	0.662000														10			11		0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56925785	56925785	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56925785G>A	uc010ygl.1	+	3	373	c.208G>A	c.(208-210)Gag>Aag	p.E70K	ZNF583_uc002qnc.2_Missense_Mutation_p.E70K|ZNF583_uc010ygm.1_Missense_Mutation_p.E70K	NM_001159860	NP_689691	Q96ND8	ZN583_HUMAN	Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA.	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		GGTGAAGAAGGAGGGAACAAG	0.443000														80			49		0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107872917	107872917	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:107872917G>A	uc022aka.1	-	3	386	c.280C>T	c.(280-282)Ctg>Ttg	p.L94L	NRCAM_uc011kmk.2_Silent_p.L94L|NRCAM_uc003vfd.3_Silent_p.L94L|NRCAM_uc003vfe.3_Silent_p.L94L|NRCAM_uc003vfc.3_Silent_p.L88L	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	94	Ig-like 1.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ATGGTGACCAGAGGGTCTTTA	0.453000														52			28		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50278540	50278540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:50278540C>T	uc002lfe.2	+	1	824	c.208C>T	c.(208-210)Cca>Tca	p.P70S	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	70	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCGAGGAGTTCCAGTGATCAA	0.507000														16			16		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34182945	34182945	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:34182945C>T	uc011kap.2	+	14	2223	c.1849C>T	c.(1849-1851)Cac>Tac	p.H617Y		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	617					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		p.H617P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CATCAAAGTCCACTGGGAGCC	0.478000														53			38		0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108685623	108685623	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:108685623G>A	uc009zuw.3	-	2	1308	c.1117C>T	c.(1117-1119)Ctt>Ttt	p.L373F	CMKLR1_uc001tmw.3_Missense_Mutation_p.L373F|CMKLR1_uc001tmv.3_Missense_Mutation_p.L371F|CMKLR1_uc009zuv.3_Missense_Mutation_p.L373F|CMKLR1_uc021rdj.1_Missense_Mutation_p.L371F	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	373					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GAGGATCAAAGCATGCCGGTC	0.478000														95			33		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121126206	121126206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:121126206G>A	uc003eec.4	+	23	2916	c.2776G>A	c.(2776-2778)Gaa>Aaa	p.E926K	STXBP5L_uc011bji.2_Missense_Mutation_p.E902K	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	926					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGATGAAAATGAAAAATCTTG	0.398000														35			14		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46043062	46043062	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:46043062G>A	uc003gxb.3	-	8	1493	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	447					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AAGCGGTTGGGAAAAATATTC	0.368000														28			26		0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40901605	40901605	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:40901605G>A	uc002onr.3	-	6	2923	c.2654C>T	c.(2653-2655)cCt>cTt	p.P885L	PRX_uc002onq.3_Missense_Mutation_p.P746L|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	885					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCCACCTCAGGGCCCTCCAC	0.637000														52			18		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900876	51900876	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:51900876A>G	uc002iua.2	+	0	638	c.482A>G	c.(481-483)gAa>gGa	p.E161G	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	161					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			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						GAGCAGCGGGAAAAGCGCAGG	0.547000														75			41		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50540510	50540510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:50540510G>A	uc001zxz.3	-	9	1414	c.1072C>T	c.(1072-1074)Cgc>Tgc	p.R358C	HDC_uc001zxy.3_Missense_Mutation_p.R101C|HDC_uc010uff.2_Intron	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	358					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.R358H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TTAACAGAGCGAAACCGTCGG	0.547000														18			14		0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9828063	9828063	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:9828063G>A	uc003gmc.3	-	11	1642	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	SLC2A9_uc003gmd.3_Silent_p.I498I	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	527					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	p.I498I(1)|p.I527I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CAGCTGAGTCGATTTTCTCTT	0.423000														38			35		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662826	662826	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:662826G>A	uc001qii.1	+	13	1737	c.1737G>A	c.(1735-1737)cgG>cgA	p.R579R	B4GALNT3_uc001qij.1_Silent_p.R482R|B4GALNT3_uc001qik.1_Silent_p.R128R	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	579						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ACAGGATGCGGCCTCAGGCCC	0.667000														27			17		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76482354	76482354	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:76482354G>A	uc010dhp.2	-	44	7178	c.7053C>T	c.(7051-7053)ttC>ttT	p.F2351F		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGGTGAACACGAAGTACAGCT	0.627000														55			16		0	0	1	0	0
TP53I11	9537	broad.mit.edu	37	11	44959777	44959777	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:44959777C>T	uc001myi.3	-	4	715	c.110G>A	c.(109-111)gGg>gAg	p.G37E	TP53I11_uc001myf.1_Non-coding_Transcript|TP53I11_uc001myj.3_Missense_Mutation_p.G37E|TP53I11_uc001myk.3_Missense_Mutation_p.G37E|TP53I11_uc001myl.3_Missense_Mutation_p.G37E|TP53I11_uc001mym.3_Missense_Mutation_p.G4R	NM_006034	NP_006025	O14683	P5I11_HUMAN	Homo sapiens tumor protein p53 inducible protein 11 (TP53I11), mRNA.	37					negative regulation of cell proliferation|response to stress	integral to membrane		p.D36Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						ATGCACCTCCCCGTCGTCATC	0.672000														9			6		0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110809014	110809014	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:110809014G>A	uc003kpf.3	+	7	866	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	CAMK4_uc010jbv.3_Missense_Mutation_p.E14K	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	211	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.P210H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TGCAGCACCTGAAATTCTTAG	0.318000														44			24		0	0	1	0	0
C7orf31	136895	broad.mit.edu	37	7	25176300	25176300	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:25176300G>A	uc003sxn.1	-	9	1625	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F		NM_138811	NP_620166	Q8N865	CG031_HUMAN	Homo sapiens chromosome 7 open reading frame 31 (C7orf31), mRNA.	355										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						ATCTGGACAGGAACGTGGTCT	0.463000														228			31		0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55777658	55777658	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:55777658G>A	uc010gip.1	-	2	1162	c.633C>T	c.(631-633)ctC>ctT	p.L211L	BMP7_uc002xyc.3_Silent_p.L211L	NM_001719	NP_001710	P18075	BMP7_HUMAN	Homo sapiens bone morphogenetic protein 7 (BMP7), mRNA.	211					BMP signaling pathway|SMAD protein signal transduction|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of MAP kinase activity|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of glomerular mesangial cell proliferation|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			TACGGCTGTCGAGCAGGAAGA	0.622000														64			13		0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98355344	98355344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:98355344C>T	uc001kmq.3	-	16	2536	c.2408G>A	c.(2407-2409)aGa>aAa	p.R803K	PIK3AP1_uc001kmo.3_Missense_Mutation_p.R402K|PIK3AP1_uc001kmp.3_Missense_Mutation_p.R625K	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	803						cytoplasm|plasma membrane		p.P802P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCAGCGTCCTCTGGGTGGAAC	0.423000														68			24		0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31532914	31532914	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:31532914G>A	uc003aka.3	-	4	1308	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	393					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						AGTTGCAGTGGAAGAGGGGCT	0.682000														6			3		0	0	1	0	0
GPR55	9290	broad.mit.edu	37	2	231775372	231775372	+	Silent	SNP	G	A	A	rs144507378		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:231775372G>A	uc021vxz.1	-	0	306	c.306C>T	c.(304-306)ttC>ttT	p.F102F	GPR55_uc002vrf.3_Non-coding_Transcript|GPR55_uc002vrg.3_Silent_p.F102F|GPR55_uc010fxs.1_Silent_p.F102F	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	Homo sapiens G protein-coupled receptor 55 (GPR55), mRNA.	102					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		ACATGCTGACGAAGTAAAGGC	0.592000														21			14		0	0	1	0	0
OR6B3	150681	broad.mit.edu	37	2	240985397	240985397	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:240985397G>A	uc010zoe.2	-	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F	PRR21_uc010zod.2_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AGGTGAGCAGGAAGAGGAGGA	0.597000														32			14		0	0	1	0	0
NECAB1	64168	broad.mit.edu	37	8	91937813	91937813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:91937813G>A	uc011lgg.2	+	6	739	c.545G>A	c.(544-546)cGa>cAa	p.R182Q		NM_022351	NP_071746	Q8N987	NECA1_HUMAN	Homo sapiens N-terminal EF-hand calcium binding protein 1 (NECAB1), mRNA.	182					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			CCTGGAAAACGATCAAGCCGC	0.463000														7			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587193	179587193	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179587193G>A	uc021vsy.1	-	73	18814	c.18589C>T	c.(18589-18591)Cga>Tga	p.R6197*	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.R2858*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7124	Ig-like 43.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R6197*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATTTAATCGACAAGTGAGT	0.418000														56			28		0	0	1	0	0
DNA2	1763	broad.mit.edu	37	10	70190408	70190408	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:70190408G>A	uc021pru.1	-	13	2251	c.2251C>T	c.(2251-2253)Ctc>Ttc	p.L751F	DNA2_uc021prt.1_Missense_Mutation_p.L751F|DNA2_uc021prv.1_5'UTR|DNA2_uc001jog.2_Intron|DNA2_uc001joh.2_Intron	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	Homo sapiens DNA replication helicase 2 homolog (yeast) (DNA2), mRNA.	665					DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CAGGCGTAGAGAATTCTTACC	0.313000														2			6		0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75090992	75090992	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:75090992C>T	uc009xrc.3	-	8	1051	c.930G>A	c.(928-930)gaG>gaA	p.E310E	TTC18_uc001jty.3_Silent_p.E310E|TTC18_uc009xrd.1_Silent_p.E118E	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	310							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTCTTGTGATCTCTACAGGCC	0.368000														19			7		0	0	1	0	0
NUP50	10762	broad.mit.edu	37	22	45574414	45574414	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:45574414T>C	uc003bfr.3	+	4	1098	c.636T>C	c.(634-636)tcT>tcC	p.S212S	NUP50_uc003bfs.3_Silent_p.S184S|NUP50_uc011aqn.2_5'UTR|NUP50_uc003bft.3_Silent_p.S184S|NUP50_uc011aqo.1_5'UTR	NM_007172	NP_705931	Q9UKX7	NUP50_HUMAN	Homo sapiens nucleoporin 50kDa (NUP50), transcript variant 2, mRNA.	212	5 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AAAGTGAATCTAACAAAGTGG	0.393000														34			10		0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420684	11420684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11420684G>A	uc001qzs.3	-	2	537	c.499C>T	c.(499-501)Cca>Tca	p.P167S	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	167	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.		Missing (in allele S).			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)			CCTCCTTGTGGGGGTGGTCCT	0.652000														173			71		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104385666	104385666	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:104385666C>T	uc004bbp.2	-	4	3149	c.2548G>A	c.(2548-2550)Gat>Aat	p.D850N	GRIN3A_uc004bbq.1_Missense_Mutation_p.D850N	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	850					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)	ACTTCATAATCCAGAAGGGCT	0.398000														27			13		0	0	1	0	0
TRIM62	55223	broad.mit.edu	37	1	33631164	33631164	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:33631164C>T	uc001bxb.3	-	1	1050	c.412G>A	c.(412-414)Gag>Aag	p.E138K		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	Homo sapiens tripartite motif containing 62 (TRIM62), mRNA.	138						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				TCCTTCAGCTCCCTCTGAAAC	0.642000														0			12		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326736	152326736	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152326736T>C	uc001ezw.4	-	2	3599	c.3526A>G	c.(3526-3528)Acc>Gcc	p.T1176A	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1176	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAACTTGTGGTTGGACCTGAG	0.483000														81			51		0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97527320	97527320	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:97527320C>T	uc002sxg.4	-	11	2058	c.1827G>A	c.(1825-1827)aaG>aaA	p.K609K	SEMA4C_uc002sxf.4_Silent_p.K56K|SEMA4C_uc002sxe.3_Silent_p.K56K|SEMA4C_uc002sxh.4_Silent_p.K556K	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	556	Ig-like C2-type.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GCTCACCTTTCTTACTGCCAC	0.547000														80			45		0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166912059	166912059	+	Silent	SNP	G	A	A	rs144324870		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:166912059G>A	uc003qvd.1	-	9	872	c.759C>T	c.(757-759)ccC>ccT	p.P253P	RPS6KA2_uc011ego.1_Silent_p.P139P|RPS6KA2_uc010kkl.1_Silent_p.P139P|RPS6KA2_uc003qvb.1_Silent_p.P228P|RPS6KA2_uc003qvc.1_Silent_p.P236P	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.	228	Protein kinase 1.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TCACCACCTCGGGCGCCATGT	0.612000														24			13		0	0	1	0	0
ARMCX5-GPRASP2	100528062	broad.mit.edu	37	X	101971512	101971512	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:101971512G>A	uc022cbh.1	+	0	1715	c.1715G>A	c.(1714-1716)aGg>aAg	p.R572K	ARMCX5-GPRASP2_uc022cay.1_Missense_Mutation_p.R572K|ARMCX5-GPRASP2_uc022cbe.1_Missense_Mutation_p.R572K|ARMCX5-GPRASP2_uc004ejl.3_Missense_Mutation_p.R572K|ARMCX5-GPRASP2_uc022cbf.1_Missense_Mutation_p.R572K|ARMCX5-GPRASP2_uc022cbg.1_Missense_Mutation_p.R572K|ARMCX5-GPRASP2_uc004ejm.3_Missense_Mutation_p.R572K|ARMCX5-GPRASP2_uc004ejk.3_Missense_Mutation_p.R572K	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN	Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.	572						cytoplasm	protein binding										GAGCATCTTAGGGCCAGGGAG	0.463000														41			26		0	0	1	0	0
GCFC1	94104	broad.mit.edu	37	21	34117202	34117202	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:34117202G>A	uc002yqn.3	-	12	2281	c.2091C>T	c.(2089-2091)gaC>gaT	p.D697D	GCFC1_uc002yql.3_Silent_p.D206D|GCFC1_uc002yqm.3_Silent_p.D191D|GCFC1_uc002yqo.3_Non-coding_Transcript|GCFC1_uc002yqp.3_Silent_p.D697D	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	Homo sapiens GC-rich sequence DNA-binding factor 1 (GCFC1), transcript variant 1, mRNA.	697				Missing (in Ref. 5; AAD34617).		cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(11)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	39						TAGAAAAAGGGTCCCACATAT	0.333000														64			38		0	0	1	0	0
FAM55C	91775	broad.mit.edu	37	3	101540541	101540541	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:101540541C>T	uc003dvn.3	+	7	2060	c.1423C>T	c.(1423-1425)Cca>Tca	p.P475S	FAM55C_uc010hpn.3_Missense_Mutation_p.P475S	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	475						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						CGATCGAAGCCCAAAGACCGT	0.567000														71			27		0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40494625	40494625	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:40494625C>T	uc001zkx.4	+	12	1799	c.1587C>T	c.(1585-1587)tcC>tcT	p.S529S	BUB1B_uc010ucl.1_Silent_p.S397S	NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	529					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TACCTTTCTCCATTTTTGATG	0.284000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome					24			17		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54782698	54782698	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:54782698G>A	uc002qfb.3	-	5	1190	c.924C>T	c.(922-924)gcC>gcT	p.A308A	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.A308A|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.A308A|LILRB2_uc010yet.2_Silent_p.A192A|LILRB2_uc010yeu.1_Non-coding_Transcript	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	308	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTCGCTGGGGGCCGAGCACT	0.647000														31			13		0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74874374	74874375	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:74874374_74874375CC>TT	uc001xpx.2	-	3	828_829	c.580_581GG>AA	c.(580-582)ggg>AAg	p.G194K		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	Homo sapiens synapse differentiation inducing 1-like (SYNDIG1L), mRNA.	194					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						GCGGAAGTCCCCTTTGGAGATG	0.663000														58			44		0	0	1	0	0
THOP1	7064	broad.mit.edu	37	19	2811693	2811693	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:2811693C>T	uc002lwj.3	+	11	2024	c.1869C>T	c.(1867-1869)ttC>ttT	p.F623F	THOP1_uc010xgz.2_Silent_p.F502F|THOP1_uc002lwk.3_Silent_p.F134F	NM_003249	NP_003240	P52888	THOP1_HUMAN	Homo sapiens thimet oligopeptidase 1 (THOP1), mRNA.	623					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		TGGACATGTTCCACACGCGCT	0.617000														48			30		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764181	82764181	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:82764181G>A	uc003uhx.2	-	2	2974	c.2685C>T	c.(2683-2685)tcC>tcT	p.S895S	PCLO_uc003uhv.2_Silent_p.S895S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	841	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S895F(1)		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						GAGGCTTTGGGGACTGTTGAG	0.547000														154			191		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46760421	46760421	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:46760421C>T	uc003bhw.1	-	32	8767	c.8767G>A	c.(8767-8769)Gag>Aag	p.E2923K		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2923					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TTCCTCTGCTCTGGGGGCTGG	0.701000														30			13		0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28115990	28115990	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:28115990G>A	uc002dpa.1	-	20	3324	c.2823C>T	c.(2821-2823)ctC>ctT	p.L941L	XPO6_uc002dpb.1_Silent_p.L927L|XPO6_uc010vcp.1_Silent_p.L941L	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	941					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TCCGGAAAAGGAGCTCAAACA	0.607000														30			7		0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228239	142228239	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:142228239G>A	uc003ywd.1	-	3	1655	c.1347C>T	c.(1345-1347)tcC>tcT	p.S449S	SLC45A4_uc003ywc.1_Silent_p.S449S|SLC45A4_uc010meq.1_Silent_p.S447S	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	500					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCTTCAGCATGGAGAGCCACA	0.662000														31			6		0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233322373	233322373	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:233322373G>A	uc002vst.4	+	5	824	c.747G>A	c.(745-747)ggG>ggA	p.G249G	ALPI_uc002vsu.4_Silent_p.G160G	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	249					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGCTGGACGGGAAGAACCTGG	0.627000														35			10		0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203242220	203242220	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:203242220C>T	uc002uzf.4	+	0	1171	c.23C>T	c.(22-24)cCc>cTc	p.P8L	BMPR2_uc010ftr.3_Missense_Mutation_p.P8L|BMPR2_uc002uze.3_Missense_Mutation_p.P8L	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2), mRNA.	8					BMP signaling pathway|anterior/posterior pattern formation|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						CTGCAGCGGCCCTGGCGGGTG	0.652000														53			19		0	0	1	0	0
RRBP1	6238	broad.mit.edu	37	20	17623740	17623740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:17623740G>A	uc002wpw.1	-	3	923	c.646C>T	c.(646-648)Ccc>Tcc	p.P216S	RRBP1_uc002wpu.3_5'UTR|RRBP1_uc010gcl.1_5'UTR|RRBP1_uc002wpv.1_Missense_Mutation_p.P216S	NM_004587	NP_004578	Q9P2E9	RRBP1_HUMAN	Homo sapiens ribosome binding protein 1 homolog 180kDa (dog) (RRBP1), transcript variant 2, mRNA.	649	41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GTCTTGTAGGGGAGGTAGAGA	0.602000														22			18		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768566	117768566	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:117768566G>A	uc001twn.2	-	1	1020	c.309C>T	c.(307-309)ttC>ttT	p.F103F	NOS1_uc001twm.2_Silent_p.F103F	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	103	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGTGCGTGGTGAAACCTTCAG	0.622000														42			14		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125876293	125876293	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:125876293G>A	uc003eim.1	-	3	611	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Intron|ALDH1L1_uc003eio.3_5'Flank|ALDH1L1_uc010hsf.1_Silent_p.L167L|ALDH1L1_uc003eip.1_Silent_p.L50L|ALDH1L1_uc011bkj.1_5'UTR	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	141	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.G140V(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCGGTGTCCAGACCATCATCC	0.562000														69			18		0	0	1	0	0
N4BP3	23138	broad.mit.edu	37	5	177548666	177548666	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:177548666C>T	uc003mik.1	+	4	1546	c.1299C>T	c.(1297-1299)gcC>gcT	p.A433A	N4BP3_uc003mil.1_Silent_p.A102A	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Homo sapiens NEDD4 binding protein 3 (N4BP3), mRNA.	433						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGAGCAGGCCCCTCGGGAGG	0.677000														15			39		0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60038340	60038340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:60038340G>A	uc002izo.3	-	22	5445	c.5368C>T	c.(5368-5370)Ctt>Ttt	p.L1790F		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	1790					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCCACAAAAAGAACATTATAT	0.373000														37			10		0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714533	138714533	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:138714533G>A	uc004cgr.4	-	10	1974	c.1974C>T	c.(1972-1974)ttC>ttT	p.F658F	CAMSAP1_uc004cgq.4_Silent_p.F548F|CAMSAP1_uc010nbg.3_Silent_p.F380F	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	658						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGCCCATGGGGAATTCTGAGC	0.592000														18			15		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046879	73046879	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:73046879C>T	uc004ebn.2	+	0		c.34840C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		ATGGGCTTTCCATCTTAGTCC	0.488000														36			31		0	0	1	0	0
PIK3R2	5296	broad.mit.edu	37	19	18279579	18279579	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:18279579G>A	uc002nia.1	+	14	2364	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	618					T cell costimulation|T cell receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CCCGCACCACGAGGAACGCAC	0.662000											OREG0025359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			5		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163374271	163374271	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:163374271C>T	uc002uch.2	-	3	1090	c.861G>A	c.(859-861)aaG>aaA	p.K287K	KCNH7_uc002uci.3_Silent_p.K287K	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	287					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.K287fs*5(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TAAATATGTTCTTGGGGTGGA	0.383000														32			13		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941681	22941681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:22941681C>T	uc021urt.1	-	3	1185	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CCACATTCTTCACATTTGTAG	0.383000														25			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062726	9062726	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9062726C>T	uc002mkp.3	-	2	24924	c.24720G>A	c.(24718-24720)gaG>gaA	p.E8240E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8242	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGTGGTCATCTCTGAGTGTG	0.498000														30			22		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240286514	240286514	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:240286514G>A	uc010pye.2	+	1	1876	c.1651G>A	c.(1651-1653)Gag>Aag	p.E551K	FMN2_uc010pyd.2_Missense_Mutation_p.E551K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	551					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.E694K(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGCCAGCAGGAGAACGGGCC	0.532000														144			20		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173493234	173493234	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:173493234C>T	uc001giz.2	-	21	2938	c.2515_splice	c.e21-1	p.V839_splice	SLC9C2_uc009wwe.2_Splice_Site_p.V397_splice	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	839					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TAAGAAGTACCTAAAAACAAA	0.348000														16			17		0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149882500	149882500	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:149882500G>A	uc001etg.3	-	3	1324	c.833C>T	c.(832-834)tCc>tTc	p.S278F	SV2A_uc001eth.2_Missense_Mutation_p.S278F	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	278					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GGAGAAATAGGAGAAGACAAT	0.522000														49			10		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626087	140626087	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140626087C>T	uc003lje.3	+	0	941	c.941C>T	c.(940-942)tCg>tTg	p.S314L		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	314	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S314L(4)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAATGTCTTCGTATGATCTA	0.403000														29			68		0	0	1	0	0
TLX3	30012	broad.mit.edu	37	5	170736468	170736468	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:170736468C>T	uc003mbf.3	+	0	181	c.99C>T	c.(97-99)ccC>ccT	p.P33P	AX746723_uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	Homo sapiens T-cell leukemia homeobox 3 (TLX3), mRNA.	33						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACAGCGCACCCGCCCCGCGGG	0.756000			T	BCL11B	T-ALL									6			12		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183713767	183713767	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:183713767A>G	uc003ivd.1	+	24	6017	c.5942A>G	c.(5941-5943)aAc>aGc	p.N1981S		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1981					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AAGACAGTAAACCTCCAGAGT	0.398000														192			119		0	0	1	0	0
LOC494141	494141	broad.mit.edu	37	11	18231770	18231770	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:18231770G>A	uc009yhh.3	+	1		c.794G>A			LOC494141_uc001mnx.4_Non-coding_Transcript|LOC494141_uc009yhi.2_Non-coding_Transcript					Homo sapiens mitochondrial carrier triple repeat 1 pseudogene (LOC494141), transcript variant 1, non-coding RNA.																		TTCTTTTCCAGAATGGACTCA	0.428000														30			22		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11592934	11592934	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:11592934C>T	uc002gne.3	+	19	3863	c.3795C>T	c.(3793-3795)atC>atT	p.I1265I	DNAH9_uc010coo.3_Silent_p.I559I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1265	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACATCGAGATCCAGCAGATGG	0.498000														82			22		0	0	1	0	0
MMP24	10893	broad.mit.edu	37	20	33862257	33862257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:33862257G>A	uc002xbu.2	+	8	1786	c.1783G>A	c.(1783-1785)Gat>Aat	p.D595N	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	595					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GACCATCAACGATGTGCCGGG	0.617000														90			28		0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16536010	16536010	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:16536010G>A	uc002ndx.3	-	8	682	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Silent_p.L116L|EPS15L1_uc002ndz.1_Silent_p.L226L|EPS15L1_uc010xpf.1_Silent_p.L129L|EPS15L1_uc002nea.1_Silent_p.L226L|EPS15L1_uc010eah.1_Silent_p.L226L|EPS15L1_uc002neb.1_Silent_p.L72L|EPS15L1_uc002nec.1_Silent_p.L226L	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	226					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CTGGCAGGCAGGACGGGGACG	0.687000														66			22		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967664	4967664	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:4967664G>A	uc010qys.2	-	0	667	c.667C>T	c.(667-669)Ctc>Ttc	p.L223F		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGTCTTGAGGATCAGGGTG	0.433000														57			16		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815590	23815590	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:23815590C>T	uc003gqs.3	-	7	1636	c.1516G>A	c.(1516-1518)Gcc>Acc	p.A506T	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	506					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CCATCCATGGCTAGTCCTGAA	0.428000														23			24		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56467093	56467093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56467093C>T	uc002qmh.3	+	2	1740	c.1669C>T	c.(1669-1671)Ctt>Ttt	p.L557F	NLRP8_uc010etg.3_Missense_Mutation_p.L557F	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	557						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCACATGGGACTTTTCTTATT	0.468000														58			9		0	0	1	0	0
ENDOD1	23052	broad.mit.edu	37	11	94861922	94861922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:94861922C>T	uc001pfh.3	+	1	800	c.682C>T	c.(682-684)Cct>Tct	p.P228S		NM_015036	NP_055851	O94919	ENDD1_HUMAN	Homo sapiens endonuclease domain containing 1 (ENDOD1), mRNA.	228						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TTGTGCTGTCCCTGGAGGAGG	0.493000														25			12		0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806208	97806208	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:97806208C>T	uc011bgs.2	+	0	192	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TGTACTTATTCCTTGGTGGTT	0.433000														136			46		0	0	1	0	0
TMEM44	93109	broad.mit.edu	37	3	194346634	194346634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:194346634G>A	uc010hzn.3	-	2	556	c.350C>T	c.(349-351)tCt>tTt	p.S117F	TMEM44_uc003fuf.3_Missense_Mutation_p.S117F|TMEM44_uc003fue.3_Missense_Mutation_p.S117F|TMEM44_uc011bsv.2_Missense_Mutation_p.S117F|TMEM44_uc003fuh.1_Non-coding_Transcript	NM_001166305	NP_001159777	Q2T9K0	TMM44_HUMAN	Homo sapiens transmembrane protein 44 (TMEM44), transcript variant 3, mRNA.	117						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		ACCTGAATTAGACTTGAATTT	0.478000														70			28		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117299146	117299146	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:117299146C>T	uc001prh.1	-	32	6242	c.6240G>A	c.(6238-6240)atG>atA	p.M2080I		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	2020					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGAGCCCCCCATTTTGGTGT	0.706000														10			6		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179631268	179631268	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:179631268G>A	uc010pnp.2	+	14	2870	c.2352G>A	c.(2350-2352)ctG>ctA	p.L784L	TDRD5_uc021pfm.1_Silent_p.L730L|TDRD5_uc001gnf.2_Silent_p.L730L|TDRD5_uc021pfn.1_Silent_p.L784L|TDRD5_uc001gnh.2_Silent_p.L285L	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	781					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.L730L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGCCATGCCTGGAGTCAGTGA	0.403000														53			48		0	0	1	0	0
TSSC1	7260	broad.mit.edu	37	2	3197799	3197799	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:3197799G>A	uc002qxj.2	-	6	985	c.792C>T	c.(790-792)ccC>ccT	p.P264P	TSSC1_uc002qxi.2_Non-coding_Transcript	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN	Homo sapiens tumor suppressing subtransferable candidate 1 (TSSC1), mRNA.	264							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		GGGTCTTCACGGGTTCGGTGA	0.527000														94			15		0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159923209	159923209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:159923209G>A	uc001fus.3	-	1	398	c.281C>T	c.(280-282)tCc>tTc	p.S94F	SLAMF9_uc009wtd.3_Missense_Mutation_p.S94F|SLAMF9_uc001fut.3_Intron	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	Homo sapiens SLAM family member 9 (SLAMF9), transcript variant 1, mRNA.	94						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GATATGCAGGGAATAGCTGGG	0.517000														76			37		0	0	1	0	0
ACOT2	10965	broad.mit.edu	37	14	74004356	74004356	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:74004356C>T	uc001xol.1	+	0	429	c.231C>T	c.(229-231)ccC>ccT	p.P77P	HEATR4_uc021rwe.1_Intron|HEATR4_uc021rwf.1_Intron|ACOT2_uc010tuc.2_Silent_p.P77P	NM_001037161	NP_001032238	P49753	ACOT2_HUMAN	Homo sapiens acyl-CoA thioesterase 1 (ACOT1), mRNA.	139					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		GGCTTGAGCCCATGGGGCTGC	0.716000														28			6		0	0	1	0	0
TEX101	83639	broad.mit.edu	37	19	43920619	43920619	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:43920619C>T	uc002owk.3	+	6	918	c.357C>T	c.(355-357)atC>atT	p.I119I	TEX101_uc010xwo.2_Silent_p.I101I	NM_031451	NP_001123483	Q9BY14	TX101_HUMAN	Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA.	101						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				CCGGCCTGATCGTGACCTCCT	0.527000														134			103		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133492516	133492516	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:133492516C>T	uc003ytj.3	-	0	489	c.264G>A	c.(262-264)ctG>ctA	p.L88L	KCNQ3_uc010mdt.3_Silent_p.L88L	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	88					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGGTCTTGGCCAGGAGCCCGA	0.701000														13			8		0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96813607	96813607	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:96813607G>A	uc001yfi.3	-	1	599	c.234C>T	c.(232-234)tcC>tcT	p.S78S		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	78								p.S78F(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GAACTGACAGGGAAATTGACT	0.458000														17			9		0	0	1	0	0
PNKD	25953	broad.mit.edu	37	2	219204827	219204827	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:219204827C>T	uc002vhn.3	+	3	572	c.428C>T	c.(427-429)gCt>gTt	p.A143V	PNKD_uc002vhq.3_Missense_Mutation_p.A119V	NM_015488	NP_056303	Q8N490	PNKD_HUMAN	Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	143						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCAGCTGGCTGTGGCTGTG	0.637000														54			25		0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28331744	28331744	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:28331744C>T	uc002dpd.3	+	3	1566	c.777C>T	c.(775-777)gcC>gcT	p.A259A		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA.	259	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						CGTCGGGCGCCGACGCCTTCT	0.726000														26			8		0	0	1	0	0
SCRN1	9805	broad.mit.edu	37	7	29983653	29983653	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:29983653G>A	uc011kaa.2	-	3	593	c.544C>T	c.(544-546)Cgt>Tgt	p.R182C	SCRN1_uc011jzy.2_Missense_Mutation_p.R94C|SCRN1_uc003tak.3_Missense_Mutation_p.R162C|SCRN1_uc011jzz.2_Missense_Mutation_p.R162C|SCRN1_uc011jzw.2_Missense_Mutation_p.R94C|SCRN1_uc010kvp.3_Missense_Mutation_p.R162C|SCRN1_uc011jzx.2_Intron	NM_001145514	NP_001138986	Q12765	SCRN1_HUMAN	Homo sapiens secernin 1 (SCRN1), transcript variant 3, mRNA.	162					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GCTTCATCACGATCCACAATC	0.498000														58			82		0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25909935	25909935	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:25909935C>T	uc010crg.3	+	4	818	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	KSR1_uc002gzj.1_Intron	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	260					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CCGGCTGACCCCCCGTGCCCT	0.697000														20			8		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82475918	82475918	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:82475918G>A	uc003uhx.2	-	11	14085	c.13796C>T	c.(13795-13797)tCc>tTc	p.S4599F	PCLO_uc003uhv.2_Missense_Mutation_p.S4599F|PCLO_uc003uht.1_Missense_Mutation_p.S50F|PCLO_uc003uhu.1_Missense_Mutation_p.S29F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4487	C2 1.				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						CAGATGCTGGGAATTTTCAGA	0.338000														34			17		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26224745	26224745	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:26224745C>T	uc003abz.1	+	14	3039	c.2789C>T	c.(2788-2790)tCc>tTc	p.S930F	MYO18B_uc003aca.1_Missense_Mutation_p.S811F|MYO18B_uc010guy.1_Missense_Mutation_p.S811F|MYO18B_uc010guz.1_Missense_Mutation_p.S811F|MYO18B_uc011aka.1_Missense_Mutation_p.S84F|MYO18B_uc011akb.1_Missense_Mutation_p.S443F	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	930	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTCCCTAGATCCTTTTCCTCC	0.562000														45			16		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62289083	62289083	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:62289083G>A	uc001ntl.3	-	4	13106	c.12806C>T	c.(12805-12807)cCc>cTc	p.P4269L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4269					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCACCTTGGGACCTTTCAG	0.498000														119			97		0	0	1	0	0
RRAGC	64121	broad.mit.edu	37	1	39318076	39318076	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:39318076G>A	uc001ccq.2	-	3	748	c.726C>T	c.(724-726)acC>acT	p.T242T	RRAGC_uc010oim.1_Silent_p.T208T|RRAGC_uc001ccr.2_Silent_p.T164T	NM_022157	NP_071440	Q9HB90	RRAGC_HUMAN	Homo sapiens Ras-related GTP binding C (RRAGC), mRNA.	242					RNA splicing|apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				GGTTTTCCAAGGTCGGCAGTT	0.328000														12			78		0	0	1	0	0
LARP7	51574	broad.mit.edu	37	4	113567957	113567957	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:113567957C>T	uc003iaz.3	+	6	884	c.419C>T	c.(418-420)cCc>cTc	p.P140L	LARP7_uc003iay.3_Missense_Mutation_p.P133L|LARP7_uc003iba.3_Missense_Mutation_p.P54L|LARP7_uc003ibb.3_Missense_Mutation_p.P133L	NM_016648	NP_057732	Q4G0J3	LARP7_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 7 (LARP7), transcript variant 1, mRNA.	133	RRM.				RNA processing	nucleoplasm|ribonucleoprotein complex	RNA binding|nucleotide binding			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		GAGTTACTTCCCAAAAATGTT	0.289000														47			41		0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516219	138516219	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:138516219C>T	uc010nbd.1	-	4	809	c.555G>A	c.(553-555)gaG>gaA	p.E185E		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	185					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		GGCCCAGGGTCTCCACCCCGA	0.582000														19			19		0	0	1	0	0
OXCT1	5019	broad.mit.edu	37	5	41794831	41794831	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:41794831G>A	uc003jmn.3	-	11	1451	c.1120C>T	c.(1120-1122)Ctt>Ttt	p.L374F	OXCT1_uc011cpo.2_5'Flank|OXCT1_uc011cpp.2_5'Flank	NM_000436	NP_000427	P55809	SCOT1_HUMAN	Homo sapiens 3-oxoacid CoA transferase 1 (OXCT1), nuclear gene encoding mitochondrial protein, mRNA.	374					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	p.L374L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	GCTCCTGGAAGAATAGTAACT	0.398000														42			9		0	0	1	0	0
C3orf58	205428	broad.mit.edu	37	3	143704391	143704391	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:143704391C>T	uc003evo.3	+	1	1199	c.664C>T	c.(664-666)Ccg>Tcg	p.P222S	C3orf58_uc011bnl.2_Missense_Mutation_p.P13S	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	Homo sapiens chromosome 3 open reading frame 58 (C3orf58), transcript variant 1, mRNA.	222						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTAGAGTTTTCCGTCTGATGA	0.368000														55			30		0	0	1	0	0
GPR45	11250	broad.mit.edu	37	2	105859317	105859317	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:105859317C>T	uc002tco.1	+	0	1118	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	334						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.A334A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TCCGCGAGGCCTGCATAGAGT	0.542000														60			14		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57351694	57351694	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:57351694C>T	uc001cyo.2	+	6	1082	c.950C>T	c.(949-951)tCa>tTa	p.S317L		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	317	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						ATGCTGCAGTCATTAATGGAG	0.413000														14			19		0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068652	5068652	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5068652G>A	uc010qyv.2	+	0	897	c.897G>A	c.(895-897)caG>caA	p.Q299Q		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q299H(2)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGACCAAACAGATTCGAGAAC	0.378000														41			14		0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50625329	50625329	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:50625329G>A	uc001wxs.4	-	10	1986	c.1888C>T	c.(1888-1890)Cgt>Tgt	p.R630C	SOS2_uc010tql.2_Missense_Mutation_p.R597C|SOS2_uc010tqm.1_Non-coding_Transcript|SOS2_uc001wxt.2_Missense_Mutation_p.R318C	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	630	N-terminal Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CAAAATGAACGATATGTGGTA	0.299000														76			24		0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436958	248436958	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248436958G>A	uc010pzi.2	-	0	159	c.159C>T	c.(157-159)ctC>ctT	p.L53L		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGGGCGTGTGGAGCCGGTGGT	0.527000														143			6		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117693741	117693741	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:117693741C>T	uc001twn.2	-	17	3344	c.2633_splice	c.e17+1	p.R878_splice	NOS1_uc021ren.1_Intron|NOS1_uc021reo.1_Intron|NOS1_uc001twm.2_Intron	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	844	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CACACTCTACCTGTGCTGGCT	0.577000														60			56		0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1535945	1535945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:1535945G>A	uc010uvf.2	-	2	1417	c.1417C>T	c.(1417-1419)Ccc>Tcc	p.P473S		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	478						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CGGCCTCAGGGACAGCGTTCC	0.657000														12			6		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136570120	136570120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:136570120G>A	uc002tuu.1	-	6	2125	c.2114C>T	c.(2113-2115)aCc>aTc	p.T705I		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	705	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)		GCCTCCAATGGTATCATAGCT	0.547000														39			18		0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39134959	39134959	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:39134959G>A	uc003jls.3	-	6	1740	c.1673C>T	c.(1672-1674)tCa>tTa	p.S558L	FYB_uc003jlt.3_Missense_Mutation_p.S558L|FYB_uc003jlu.3_Missense_Mutation_p.S558L|FYB_uc011cpl.2_Missense_Mutation_p.S568L	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	558	SH3.				NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GCACTCACATGAACCCCTTGC	0.433000														11			31		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121930398	121930398	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:121930398C>T	uc004bkc.2	-	7	1706	c.1250G>A	c.(1249-1251)gGc>gAc	p.G417D		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	417					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CGTGGTGCTGCCGTGGCACAC	0.617000														0			4		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435502	18435502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:18435502G>A	uc001rdt.3	+	1	603	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.E163K|PIK3C2G_uc010sic.2_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	163					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)				ATTAGAAAATGAAAATCATAA	0.338000														54			14		0	0	1	0	0
RASSF7	8045	broad.mit.edu	37	11	562279	562279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:562279C>T	uc001lqc.3	+	2	360	c.325C>T	c.(325-327)Cgt>Tgt	p.R109C	C11orf35_uc001lpx.3_5'Flank|RASSF7_uc001lqb.3_Missense_Mutation_p.R109C|RASSF7_uc001lqd.3_Missense_Mutation_p.R109C	NM_003475	NP_003466	Q02833	RASF7_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 7 (RASSF7), transcript variant 1, mRNA.	109					regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	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)		CTGCCTAATTCGTGCCAGCCT	0.672000														29			8		0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389257	20389257	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20389257G>A	uc010tkw.2	+	0	492	c.492G>A	c.(490-492)gtG>gtA	p.V164V		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATTTACTGTGAACCTGCCTT	0.443000														255			72		0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113619950	113619950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:113619950G>A	uc003eaq.4	+	6	689	c.613G>A	c.(613-615)Gag>Aag	p.E205K	GRAMD1C_uc011bil.2_Non-coding_Transcript|GRAMD1C_uc011bim.1_Non-coding_Transcript|GRAMD1C_uc003ear.3_Missense_Mutation_p.E38K|GRAMD1C_uc003eas.3_5'UTR	NM_017577	NP_001165576	Q8IYS0	GRM1C_HUMAN	Homo sapiens GRAM domain containing 1C (GRAMD1C), transcript variant 1, mRNA.	205						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AAATGCTGAGGAGATGGAAAA	0.393000														44			18		0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161119189	161119189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:161119189G>A	uc003lyu.2	+	7	1407	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	GABRA6_uc003lyv.2_Missense_Mutation_p.E128K	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	357					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGAACCTTTGGAAGCTGAGAT	0.398000										TCGA Ovarian(5;0.080)				19			41		0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744759	70744759	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:70744759G>A	uc003xyl.3	-	1	857	c.150C>T	c.(148-150)ctC>ctT	p.L50L	SLCO5A1_uc010lzb.3_Silent_p.L50L|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Silent_p.L50L|SLCO5A1_uc010lzc.2_Silent_p.L50L	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	50						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TAGTGGGACTGAGGCTTGGCC	0.642000											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		41			13		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206305094	206305094	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:206305094G>A	uc002var.2	+	20	2949	c.2742_splice	c.e20-1	p.R914_splice	PARD3B_uc002vao.2_Intron|PARD3B_uc002vap.2_Splice_Site_p.R852_splice|PARD3B_uc002vaq.2_Splice_Site_p.R845_splice	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	914					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TATTTTTCAGGATTGGAGCAA	0.363000														34			5		0	0	1	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254555	30254555	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:30254555G>A	uc022bug.1	+	0	514	c.514G>A	c.(514-516)Gat>Aat	p.D172N	MAGEB3_uc004dca.2_Missense_Mutation_p.D172N	NM_002365	NP_002356	O15480	MAGB3_HUMAN	Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA.	172	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AAAGAAAGTTGATTCTACCAA	0.423000														21			8		0	0	1	0	0
FSD1	79187	broad.mit.edu	37	19	4307975	4307975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:4307975C>T	uc002lzy.2	+	3	493	c.340C>T	c.(340-342)Cct>Tct	p.P114S	FSD1_uc010xie.2_Missense_Mutation_p.P101S|FSD1_uc010xif.2_Missense_Mutation_p.S97F	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.	114	COS.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGGACTTTCCTCAGGTGGG	0.557000														22			8		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791303	95791303	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:95791303G>A	uc001kjk.3	+	1	1134	c.500G>A	c.(499-501)gGa>gAa	p.G167E	PLCE1_uc010qnx.2_Missense_Mutation_p.G167E	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	167					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGTCCTTTAGGAAATCAGTCA	0.428000														69			27		0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74833598	74833598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:74833598C>T	uc001dge.2	+	14	1641	c.1574C>T	c.(1573-1575)tCc>tTc	p.S525F	FPGT-TNNI3K_uc001dgc.2_Missense_Mutation_p.S525F|FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.S525F|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.S424F	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	424	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										CTAGATGGCTCCTATGTGTCT	0.308000														24			28		0	0	1	0	0
RBMY2EP	159125	broad.mit.edu	37	Y	23562895	23562895	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrY:23562895G>A	uc004fun.1	-	1		c.104C>T								Homo sapiens RNA binding motif protein, Y-linked, family 2, member E pseudogene (RBMY2EP), non-coding RNA.																		TTGCTGGTTCGATCCTTTATC	0.338000														13			5		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138546119	138546119	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:138546119G>A	uc011kql.2	-	15	5062	c.5013C>T	c.(5011-5013)tcC>tcT	p.S1671S	KIAA1549_uc011kqi.2_Silent_p.S455S|KIAA1549_uc011kqk.2_Silent_p.S455S|KIAA1549_uc011kqj.2_Silent_p.S1671S	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1671						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGATGTACTGGGAGGCCGGGA	0.642000			O	BRAF	pilocytic astrocytoma									24			14		0	0	1	0	0
KCTD3	51133	broad.mit.edu	37	1	215793565	215793565	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:215793565C>T	uc001hks.3	+	17	2347	c.2053C>T	c.(2053-2055)Cct>Tct	p.P685S	KCTD3_uc001hkt.3_Missense_Mutation_p.P683S|KCTD3_uc010pub.2_Missense_Mutation_p.P583S|KCTD3_uc009xdn.3_Missense_Mutation_p.P409S	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA.	685						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.V684L(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AAGAGCTGTCCCTGAAAATGG	0.398000														27			38		0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36191028	36191028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:36191028G>A	uc001wtj.3	-	15	2523	c.2132C>T	c.(2131-2133)tCa>tTa	p.S711L	RALGAPA1_uc001wti.3_Missense_Mutation_p.S711L|RALGAPA1_uc010tpv.2_Missense_Mutation_p.S711L|RALGAPA1_uc010tpw.1_Missense_Mutation_p.S711L|RALGAPA1_uc001wtk.1_Missense_Mutation_p.S562L	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	711					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTTGTCAACTGAAACTTTCTG	0.418000														42			32		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55175231	55175231	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55175231C>T	uc002qgp.3	+	2	452	c.90C>T	c.(88-90)acC>acT	p.T30T	LILRB4_uc002qgo.1_Silent_p.T71T|LILRB4_uc002qgq.3_Silent_p.T30T|LILRB4_uc010ers.1_Intron|LILRB4_uc010ert.3_Silent_p.T71T|LILRB4_uc010eru.3_Silent_p.T59T	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	30	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCAAACCCACCCTCTGGGCTG	0.622000														32			32		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870721	51870721	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:51870721G>C	uc002xwo.3	+	1	1611	c.724G>C	c.(724-726)Gat>Cat	p.D242H	TSHZ2_uc021wex.1_Missense_Mutation_p.D239H	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	242					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CCACTATCAAGATGACAACCG	0.522000														52			14		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065889	23065889	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:23065889C>T	uc002wsv.3	-	0	1089	c.941G>A	c.(940-942)gGg>gAg	p.G314E		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	314	EGF-like 2.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCACGTGGCCCCCCCACGACA	0.642000														55			13		0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164246629	164246629	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:164246629G>A	uc003iqm.2	-	2	1446	c.981C>T	c.(979-981)ttC>ttT	p.F327F	NPY1R_uc021xtv.1_3'UTR|NPY1R_uc011cjj.2_Silent_p.F84F	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	327					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.F327F(2)|p.F327V(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AGTCTCTCTGGAAGTTTTTGT	0.433000														58			48		0	0	1	0	0
CSAD	51380	broad.mit.edu	37	12	53566324	53566324	+	Missense_Mutation	SNP	G	A	A	rs149962027		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:53566324G>A	uc001sby.3	-	3	361	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C	CSAD_uc001sbw.3_Intron|CSAD_uc009zmt.3_5'UTR|CSAD_uc010snx.2_Missense_Mutation_p.R106C|CSAD_uc001sbz.3_Missense_Mutation_p.R79C|CSAD_uc009zmu.3_Intron|CSAD_uc021qyd.1_Non-coding_Transcript|CSAD_uc010sny.2_Missense_Mutation_p.R79C	NM_001244705	NP_001231634	Q9Y600	CSAD_HUMAN	Homo sapiens cysteine sulfinic acid decarboxylase (CSAD), transcript variant 2, mRNA.	79					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	ACACTGTAGCGAATCACAGCC	0.592000														24			10		0	0	1	0	0
FOXRED1	55572	broad.mit.edu	37	11	126143258	126143259	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:126143258_126143259CC>TT	uc001qdi.3	+	3	612_613	c.445_446CC>TT	c.(445-447)ccc>TTc	p.P149F	FOXRED1_uc010sbn.2_5'UTR|FOXRED1_uc010sbq.2_Missense_Mutation_p.S17F|FOXRED1_uc010sbo.2_Non-coding_Transcript|FOXRED1_uc010sbp.2_5'UTR|FOXRED1_uc010sbr.2_Missense_Mutation_p.P135F|FOXRED1_uc001qdk.3_5'UTR	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 1 (FOXRED1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	149						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		CGATGCTCCTCCCCTGGACCTC	0.554000														40			20		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11545988	11545988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11545988G>A	uc010shk.1	-	2	1059	c.1024C>T	c.(1024-1026)Cca>Tca	p.P342S		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGCTTTCCTGGAGGTGGGGGA	0.607000														149			127		0	0	1	0	0
S100A7L2	645922	broad.mit.edu	37	1	153410754	153410754	+	Missense_Mutation	SNP	G	A	A	rs140012440		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:153410754G>A	uc010pdx.2	-	1	163	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C		NM_001045479	NP_001038944			Homo sapiens S100 calcium binding protein A7-like 2 (S100A7L2), mRNA.											NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGTATTGGCGAAACATCGCG	0.443000														80			20		0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41820156	41820156	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:41820156G>A	uc001zod.3	-	10	1454	c.1330C>T	c.(1330-1332)Ctc>Ttc	p.L444F		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	444						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGTAGGAAGAGGAAACCAGCA	0.577000														22			4		0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70231204	70231204	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:70231204C>T	uc003tvw.4	+	8	2308	c.1573C>T	c.(1573-1575)Cat>Tat	p.H525Y	AUTS2_uc003tvx.4_Missense_Mutation_p.H525Y|AUTS2_uc011keg.2_5'Flank	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	525	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GACCGAGTTCCATcagcacca	0.637000														64			10		0	0	1	0	0
LPIN1	23175	broad.mit.edu	37	2	11905737	11905737	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:11905737C>T	uc010yjm.2	+	2	270	c.217C>T	c.(217-219)Ccc>Tcc	p.P73S	LPIN1_uc010yjn.2_Missense_Mutation_p.P24S|LPIN1_uc002rbt.3_Missense_Mutation_p.P24S|LPIN1_uc002rbs.3_Missense_Mutation_p.P24S|LPIN1_uc010exi.1_Non-coding_Transcript	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	24	N-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GGGGCTGAATCCCGCCACACT	0.532000														132			36		0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55340394	55340395	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55340394_55340395CC>TT	uc010rih.2	+	0	791_792	c.791_792CC>TT	c.(790-792)ccc>cTT	p.P264L		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ACCGTATTCCCCATGGATAAGA	0.396000														30			22		0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134051017	134051017	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:134051017G>A	uc001qhd.1	-	19	3120	c.2514C>T	c.(2512-2514)atC>atT	p.I838I	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	838					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CCTTGAGAACGATGTTGGAGA	0.507000														11			11		0	0	1	0	0
ZNF143	7702	broad.mit.edu	37	11	9492905	9492905	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:9492905C>T	uc001mhr.3	+	1	169	c.50C>T	c.(49-51)cCt>cTt	p.P17L	ZNF143_uc009yfu.3_Missense_Mutation_p.P17L|ZNF143_uc010rby.2_Missense_Mutation_p.P17L	NM_003442	NP_003433	P52747	ZN143_HUMAN	Homo sapiens zinc finger protein 143 (ZNF143), mRNA.	17					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		ACAGAGTTTCCTGGAGGAGGG	0.443000														68			22		0	0	1	0	0
LOC283547	283547	broad.mit.edu	37	14	39304827	39304827	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:39304827C>T	uc010amw.2	-	0		c.3582G>A			LOC283547_uc021rsj.1_Non-coding_Transcript|LOC283547_uc001wun.3_Non-coding_Transcript|LOC283547_uc001wuo.3_Non-coding_Transcript					Homo sapiens uncharacterized LOC283547 (LOC283547), non-coding RNA.																		CGTGTTCATTCCTTTTCAGAG	0.493000														19			4		0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140223218	140223218	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:140223218C>T	uc010lnk.3	-	16	3074	c.2554G>A	c.(2554-2556)Gat>Aat	p.D852N	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.D852N|DENND2A_uc003vvw.3_Missense_Mutation_p.D852N	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	852										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GAGTCCTCATCGTCCATCTGG	0.607000														23			5		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10431132	10431132	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10431132C>T	uc010coi.3	-	27	3932	c.3804G>A	c.(3802-3804)aaG>aaA	p.K1268K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.K1268K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1268					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTCCTCTTCCTTTGATTTCA	0.483000														49			37		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167246928	167246928	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:167246928A>G	uc003fev.1	-	9	1566	c.1262T>C	c.(1261-1263)gTt>gCt	p.V421A	WDR49_uc003feu.1_Missense_Mutation_p.V246A|WDR49_uc011bpd.1_Missense_Mutation_p.V485A|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	421										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AATCGATCCAACTCCACTATG	0.378000														11			46		0	0	1	0	0
SCGB1D4	404552	broad.mit.edu	37	11	62065102	62065102	+	Silent	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:62065102A>T	uc001ntd.1	-	1	138	c.84T>A	c.(82-84)gcT>gcA	p.A28A		NM_206998	NP_996881	Q6XE38	SG1D4_HUMAN	Homo sapiens secretoglobin, family 1D, member 4 (SCGB1D4), mRNA.	28						extracellular region	binding			lung(1)|prostate(1)	2						TGATCTCAGAAGCAACAGCTG	0.448000														84			28		0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148932797	148932797	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:148932797G>A	uc010pbc.1	+	1		c.112G>A			LOC645166_uc010pbd.1_Non-coding_Transcript|LOC645166_uc009wkw.1_Non-coding_Transcript					Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC645166), transcript variant 2, non-coding RNA.																		CTGCTGGCCAGACCCCCAAGC	0.587000														166			35		0	0	1	0	0
OR4K14	122740	broad.mit.edu	37	14	20483286	20483286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20483286G>A	uc010tky.2	-	0	67	c.67C>T	c.(67-69)Ctt>Ttt	p.L23F		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L23R(1)|p.L23H(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AAATTTTGAAGATGTCGTGAA	0.398000														22			12		0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38229711	38229711	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:38229711C>T	uc002ohe.3	-	4	1749	c.1680G>A	c.(1678-1680)ggG>ggA	p.G560G	ZNF573_uc010efs.2_Silent_p.G473G|ZNF573_uc002ohd.3_Silent_p.G558G|ZNF573_uc002ohf.3_Silent_p.G502G|ZNF573_uc002ohg.3_Silent_p.G472G|ZNF573_uc021utv.1_Silent_p.G472G	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TAAAGGTCTTCCCACATTCCT	0.338000														41			9		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813294	106813294	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:106813294C>T	uc003ymd.3	+	7	1007	c.984C>T	c.(982-984)ttC>ttT	p.F328F	ZFPM2_uc011lhs.2_Silent_p.F59F	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	328					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGGAAGAATTCCTGCCCCCTG	0.428000														46			74		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921892	24921892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:24921892C>T	uc001ywo.3	+	0	1352	c.878C>T	c.(877-879)cCg>cTg	p.P293L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	293	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.P293P(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CTAGGCTTGCCGATTCCGCTG	0.622000														75			16		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43547329	43547329	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:43547329C>T	uc002zag.1	+	17	3891	c.3891C>T	c.(3889-3891)atC>atT	p.I1297I	UMODL1_uc002zad.1_Silent_p.I1097I|UMODL1_uc002zae.1_Silent_p.I1225I|UMODL1_uc002zaf.1_Silent_p.I1169I|UMODL1_uc002zal.1_Silent_p.I119I|UMODL1_uc010gpa.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	1169						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGGACCCCATCACCTTCAGCT	0.557000														47			10		0	0	1	0	0
FOXI2	399823	broad.mit.edu	37	10	129537220	129537220	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:129537220C>T	uc009yas.2	+	1	948	c.948C>T	c.(946-948)acC>acT	p.T316T	BC132944_uc009yar.1_5'Flank	NM_207426	NP_997309	Q6ZQN5	FOXI2_HUMAN	Homo sapiens forkhead box I2 (FOXI2), mRNA.	316					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				GGGAAGGGACCGAAGTTTGAA	0.682000														26			5		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884786	228884786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:228884786C>T	uc002vpq.2	-	6	831	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E262K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E262K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	262						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)		AGCCACTTTTCCTTGTTGCAA	0.378000														44			40		0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87912231	87912231	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:87912231G>A	uc022agz.1	-	3	932	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C	STEAP4_uc003ujs.3_Missense_Mutation_p.R237C|STEAP4_uc010lek.3_Intron	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	237					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					ATAGCCATACGAAATGTATTA	0.363000														58			12		0	0	1	0	0
TAAR2	9287	broad.mit.edu	37	6	132938576	132938576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:132938576C>T	uc003qdl.1	-	1	769	c.769G>A	c.(769-771)Gac>Aac	p.D257N	TAAR2_uc010kfr.1_Missense_Mutation_p.D212N	NM_001033080	NP_055441	Q9P1P5	TAAR2_HUMAN	Homo sapiens trace amine associated receptor 2 (TAAR2), transcript variant 1, mRNA.	257						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		GCTTTTTTGTCTTTCTTCACT	0.328000														9			7		0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72915871	72915871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:72915871C>T	uc002jme.1	-	1	1243	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	USH1G_uc010wro.1_Missense_Mutation_p.D251N	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	354					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					AGGCTGTCATCGTCCAGGCTG	0.677000														52			40		0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251886	25251886	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:25251886C>T	uc002dod.4	-	6	2562	c.2155G>A	c.(2155-2157)Gga>Aga	p.G719R	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.G515R	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	719					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TGTCTAATTCCTTGAAGATTT	0.443000														32			23		0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67803281	67803281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:67803281G>A	uc003xwz.4	+	9	1426	c.1255G>A	c.(1255-1257)Gat>Aat	p.D419N	MCMDC2_uc011lev.2_Missense_Mutation_p.D419N|MCMDC2_uc011lew.2_Missense_Mutation_p.D350N|MCMDC2_uc011lex.2_Missense_Mutation_p.D177N|MCMDC2_uc003xwy.4_Missense_Mutation_p.D419N	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	Homo sapiens chromosome 8 open reading frame 45 (C8orf45), transcript variant 1, mRNA.	419					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						ACACAAAAAAGATAAACTTGA	0.358000														11			27		0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14512302	14512303	+	Nonsense_Mutation	DNP	TG	CT	CT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:14512302_14512303TG>CT	uc002myl.3	+	9	1382_1383	c.1002_1003TG>CT	c.(1000-1005)cttgaa>ctCTaa	p.E335*	CD97_uc002mym.3_Nonsense_Mutation_p.E286*|CD97_uc002myn.3_Nonsense_Mutation_p.E242*	NM_078481	NP_510966	P48960	CD97_HUMAN	Homo sapiens CD97 molecule (CD97), transcript variant 1, mRNA.	335					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TCTCAAACCTTGAAGATATCAT	0.574000														25			21		0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49724857	49724857	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49724857C>T	uc009zlh.3	+	12	2396	c.2229C>T	c.(2227-2229)ctC>ctT	p.L743L	TROAP_uc001rtx.4_Intron	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	0					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GCCTGGCTCTCCCTCAGGAAG	0.607000														9			3		0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22993144	22993144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:22993144G>A	uc001yus.3	+	25	3135	c.3031G>A	c.(3031-3033)Gag>Aag	p.E1011K	CYFIP1_uc001yut.3_Missense_Mutation_p.E1011K|CYFIP1_uc010aya.1_Missense_Mutation_p.E1039K|CYFIP1_uc001yuu.3_Missense_Mutation_p.E580K|CYFIP1_uc001yuv.3_Missense_Mutation_p.E205K	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	1011					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CCTGCTCATCGAGCAGAGCCT	0.672000														36			41		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33634886	33634886	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:33634886T>C	uc001uus.3	+	3	1678	c.1670T>C	c.(1669-1671)cTt>cCt	p.L557P	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	557	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AGTAAAAGGCTTATTAAAGTG	0.468000														43			24		0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109494566	109494566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:109494566C>T	uc010sxi.2	+	1	267	c.163C>T	c.(163-165)Ccc>Tcc	p.P55S	USP30_uc001tnu.4_Missense_Mutation_p.P24S|LOC100131733_uc021rdn.1_5'Flank	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.	55					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						TATTTGGGGTCCCATTACAGA	0.383000														80			79		0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510595	5510595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5510595C>T	uc010qzg.2	+	0	681	c.659C>T	c.(658-660)tCc>tTc	p.S220F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTGCCATTTCCTATGGCTTT	0.498000														93			100		0	0	1	0	0
DNAAF3	352909	broad.mit.edu	37	19	55678019	55678019	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55678019G>A	uc002qjl.1	-	1	1	c.-1_splice	c.e1-1		DNAAF3_uc002qji.1_5'Flank|DNAAF3_uc002qjj.1_Splice_Site|DNAAF3_uc002qjk.1_Splice_Site	NM_178837	NP_849159	Q8N9W5	CS051_HUMAN	Homo sapiens chromosome 19 open reading frame 51 (C19orf51), mRNA.																		GGAAGCATGTGGGATGGGACC	0.607000														48			20		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56320313	56320313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56320313C>T	uc010ygf.2	-	4	2374	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K	NLRP11_uc002qlz.3_Missense_Mutation_p.E456K|NLRP11_uc002qmb.3_Missense_Mutation_p.E456K|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	555							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACAAATTCTTCTTCCCGATTC	0.428000														88			60		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22383097	22383097	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:22383097C>T	uc001yuc.1	+	6	1606	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Silent_p.L209L	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GATGACACTCCTGTGCTTTCT	0.527000														74			18		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449448	104449448	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:104449448G>A	uc004bbp.2	-	1	1335	c.734C>T	c.(733-735)tCa>tTa	p.S245L	GRIN3A_uc004bbq.1_Missense_Mutation_p.S245L	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	245					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)	AGAACTTAATGAATTTTCTAA	0.383000														6			34		0	0	1	0	0
CCDC93	54520	broad.mit.edu	37	2	118753067	118753067	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:118753067G>A	uc002tlj.3	-	5	642	c.474C>T	c.(472-474)ttC>ttT	p.F158F	CCDC93_uc010fld.2_Silent_p.F214F	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	Homo sapiens coiled-coil domain containing 93 (CCDC93), mRNA.	158										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TTCTCTTTATGAAGTCATCAT	0.423000														21			27		0	0	1	0	0
TMEM104	54868	broad.mit.edu	37	17	72832574	72832574	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:72832574C>T	uc002jls.4	+	9	1401	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.3_Silent_p.F413F	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	Homo sapiens transmembrane protein 104 (TMEM104), mRNA.	413						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TGGTGGCCTTCTGCACCCACG	0.672000														34			26		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72339245	72339245	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:72339245C>T	uc002jkm.4	+	4	540	c.402C>T	c.(400-402)gcC>gcT	p.A134A	KIF19_uc002jkj.2_Silent_p.A134A|KIF19_uc002jkk.2_Silent_p.A134A|KIF19_uc002jkl.2_Silent_p.A134A	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	134	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R133C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TCTTCCGTGCCATCGAGGAGA	0.592000														37			8		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:16279248C>T	uc010gqp.2	-	3	1027	c.975G>A	c.(973-975)gtG>gtA	p.V325V	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Silent_p.V44V|POTEH_uc002zlj.1_Silent_p.V160V	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	325										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTAAAAATTTCACCACTTGCT	0.328000														458			32		0	0	1	0	0
ZNF471	57573	broad.mit.edu	37	19	57037081	57037081	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:57037081G>A	uc002qnh.3	+	4	1778	c.1645G>A	c.(1645-1647)Ggg>Agg	p.G549R		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	Homo sapiens zinc finger protein 471 (ZNF471), mRNA.	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TAATGAATGCGGGAAAGCCTT	0.383000														72			15		0	0	1	0	0
FOXK2	3607	broad.mit.edu	37	17	80521235	80521235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:80521235C>T	uc002kfn.3	+	1	596	c.425C>T	c.(424-426)aCa>aTa	p.T142I	FOXK2_uc002kfm.1_Missense_Mutation_p.T142I|FOXK2_uc010diu.3_Missense_Mutation_p.T142I	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	Homo sapiens forkhead box K2 (FOXK2), mRNA.	142					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TCCAGGTGCACATTCAGGTTC	0.557000														23			5		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113073133	113073133	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:113073133G>A	uc021qqp.1	+	1	451	c.79G>A	c.(79-81)Ggg>Agg	p.G27R	NCAM1_uc001pno.3_5'UTR|NCAM1_uc001pnp.3_Missense_Mutation_p.G27R|NCAM1_uc021qqo.1_Missense_Mutation_p.G27R|NCAM1_uc001pnq.3_Missense_Mutation_p.G27R|NCAM1_uc001pnr.3_Missense_Mutation_p.G27R	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	29	Ig-like C2-type 1.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TCCCAGCCAGGGGGAGATCAG	0.408000														12			7		0	0	1	0	0
LOC100101266	100101266	broad.mit.edu	37	19	24345419	24345419	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:24345419C>T	uc010edb.1	-	0		c.831G>A								Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA.																		AGCACAGATTCCTTTAGTGGT	0.428000														128			42		0	0	1	0	0
HSPA14	51182	broad.mit.edu	37	10	14894443	14894443	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:14894443G>A	uc001inf.3	+	7	788	c.647G>A	c.(646-648)cGg>cAg	p.R216Q		NM_016299	NP_057383	Q0VDF9	HSP7E_HUMAN	Homo sapiens heat shock 70kDa protein 14 (HSPA14), transcript variant 1, mRNA.	216					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						GGAATATATCGGGTTCTTTCA	0.383000														120			49		0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14273562	14273562	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:14273562C>T	uc010xnn.2	-	5	1362	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	LPHN1_uc010xno.2_Missense_Mutation_p.E351K|LOC100507373_uc002myf.3_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	356	Olfactomedin-like.				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						CTGACAGGCTCCTCGCGGTTG	0.577000														34			33		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177249620	177249620	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:177249620C>T	uc001glf.3	+	7	1620	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	FAM5B_uc001glg.3_Silent_p.F331F	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	436						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						CTGGCACTTTCCTGGAACAGA	0.577000														26			29		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141055433	141055433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:141055433C>T	uc002tvj.1	-	83	13883	c.12911G>A	c.(12910-12912)gGa>gAa	p.G4304E		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4304	EGF-like 12.				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)		AGGCTGGTTTCCAGCAGTCAC	0.498000										TSP Lung(27;0.18)				117			45		0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604187	140604187	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140604187C>T	uc003ljb.3	+	0	1110	c.1110C>T	c.(1108-1110)atC>atT	p.I370I		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	370	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTTTAGTATCCTAGACCAAG	0.413000														32			59		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18576937	18576937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:18576937C>T	uc001rdt.3	+	16	2461	c.2345C>T	c.(2344-2346)tCc>tTc	p.S782F	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.S823F|PIK3C2G_uc010sic.2_Missense_Mutation_p.S601F	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	782					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	p.R781H(1)|p.S782S(1)		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)				CTCCACCGCTCCTTGCAGAGC	0.428000														19			3		0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35854136	35854136	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:35854136C>T	uc002xgp.3	+	10	1534	c.1230C>T	c.(1228-1230)agC>agT	p.S410S	RPN2_uc010gfw.2_Silent_p.S253S|RPN2_uc002xgq.3_Silent_p.S378S|RPN2_uc021wdb.1_Silent_p.S192S	NM_002951	NP_002942	P04844	RPN2_HUMAN	Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA.	410					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TCGCAGACAGCCACCAGAACT	0.488000														34			21		0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53572700	53572700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53572700G>A	uc010eqk.3	-	6	1503	c.1087C>T	c.(1087-1089)Cat>Tat	p.H363Y	ZNF160_uc002qaq.4_Missense_Mutation_p.H363Y|ZNF160_uc002qar.4_Missense_Mutation_p.H363Y	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	363					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TCTCCAGTATGAATTAACTGA	0.388000														66			17		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3000143	3000143	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:3000143C>T	uc022aqr.1	-	40	6475	c.6085G>A	c.(6085-6087)Gaa>Aaa	p.E2029K	CSMD1_uc011kwj.2_Missense_Mutation_p.E1422K|CSMD1_uc010lrg.3_Missense_Mutation_p.E98K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2030	CUB 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTTTGAATTTCAAGGAAGTCA	0.423000														118			27		0	0	1	0	0
OSGIN1	29948	broad.mit.edu	37	16	83992993	83992993	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:83992993C>T	uc002fha.3	+	3	445	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L	OSGIN1_uc002fhb.3_Silent_p.L66L|OSGIN1_uc002fhc.3_Silent_p.L66L	NM_182981	NP_892026	Q9UJX0	OSGI1_HUMAN	Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.	149					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GGTCTCCATCCTGGACCAGGT	0.607000														8			6		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644594	169644594	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:169644594C>T	uc003fgd.3	+	5	811	c.544C>T	c.(544-546)Cgt>Tgt	p.R182C	SAMD7_uc003fge.3_Missense_Mutation_p.R182C|SAMD7_uc011bpo.2_Missense_Mutation_p.R83C	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	182										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GCAGAGATGTCGTCGACTCAG	0.483000														63			12		0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42744370	42744370	+	Missense_Mutation	SNP	C	T	T	rs146641400		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:42744370C>T	uc002xli.1	-	3	2818	c.1945G>A	c.(1945-1947)Ggg>Agg	p.G649R	JPH2_uc021wea.1_5'Flank	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	649					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TTCTTGGCCCCCGCCTTGGTC	0.687000														25			18		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255890	140255890	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140255890C>T	uc003lic.2	+	0	960	c.833C>T	c.(832-834)tCc>tTc	p.S278F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.S278F	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	293	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S278F(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAAATTTCCTATGGGATC	0.368000														104			33		0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10877426	10877426	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:10877426G>A	uc003mzn.4	-	1	362	c.290C>T	c.(289-291)tCc>tTc	p.S97F	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	97					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	p.G96C(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CTGCAGGCGGGAACCGTCGGG	0.612000														106			23		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38647622	38647622	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:38647622C>T	uc021wvo.1	-	8	1210	c.1158G>A	c.(1156-1158)ggG>ggA	p.G386G	SCN5A_uc021wvk.1_Silent_p.G386G|SCN5A_uc021wvl.1_Silent_p.G386G|SCN5A_uc021wvm.1_Silent_p.G386G|SCN5A_uc021wvn.1_Silent_p.G386G|SCN5A_uc021wvp.1_Silent_p.G386G|SCN5A_uc021wvq.1_Silent_p.G386G|SCN5A_uc021wvr.1_Silent_p.G386G|SCN5A_uc021wvs.1_Silent_p.G386G|SCN5A_uc021wvt.1_Silent_p.G386G|SCN5A_uc021wvu.1_Silent_p.G386G|SCN5A_uc021wvv.1_Silent_p.G386G|SCN5A_uc021wvj.1_Silent_p.G252G|SCN5A_uc021wvi.1_Silent_p.G252G|SCN5A_uc021wvw.1_5'UTR	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	386					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGTAGATCTTCCCTGCGGACC	0.557000														25			8		0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164246675	164246675	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:164246675G>A	uc003iqm.2	-	2	1400	c.935C>T	c.(934-936)tCc>tTc	p.S312F	NPY1R_uc021xtv.1_3'UTR|NPY1R_uc011cjj.2_Missense_Mutation_p.S69F	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	312					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GACACAAGTGGATATCATTGC	0.418000														54			42		0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69639986	69639986	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:69639986C>T	uc004dyg.3	+	30	3713	c.3570C>T	c.(3568-3570)ctC>ctT	p.L1190L	KIF4A_uc010nkw.3_Silent_p.L1190L|GDPD2_uc010nkx.2_5'Flank|GDPD2_uc010nky.2_5'Flank|GDPD2_uc011mpk.2_5'Flank|GDPD2_uc004dyh.3_5'Flank|GDPD2_uc011mpl.2_5'Flank|GDPD2_uc011mpm.2_5'Flank	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	1190	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CTTTTGACCTCCCAGAGTTGA	0.507000														2			23		0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91811757	91811757	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:91811757G>A	uc002bqv.3	+	9	2186	c.1295G>A	c.(1294-1296)gGt>gAt	p.G432D	SV2B_uc002bqt.3_Missense_Mutation_p.G432D|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.G281D	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	432					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GTGTTTTTTGGTGAGCATGTG	0.413000														412			167		0	0	1	0	0
ELMOD1	55531	broad.mit.edu	37	11	107518278	107518278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:107518278C>T	uc010rvs.2	+	6	909	c.505C>T	c.(505-507)Cct>Tct	p.P169S	ELMOD1_uc001pjm.3_Missense_Mutation_p.P169S|ELMOD1_uc010rvt.2_Missense_Mutation_p.P163S	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA.	169	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		AGGTGATGATCCTAAAACAGA	0.403000														10			15		0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154182949	154182949	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:154182949C>T	uc003lvo.3	+	11	2002	c.1978C>T	c.(1978-1980)Cct>Tct	p.P660S	LARP1_uc021ygh.1_Missense_Mutation_p.P532S|LARP1_uc021ygi.1_Missense_Mutation_p.P737S|LARP1_uc010jie.1_Missense_Mutation_p.P532S	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	737							RNA binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGAAGTTCCTCCTGGGCCACC	0.567000														36			4		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215853493	215853493	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:215853493T>C	uc001hku.1	-	61	12679	c.12292A>G	c.(12292-12294)Aag>Gag	p.K4098E		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4098	Fibronectin type-III 26.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GACATTACCTTAATCACACCA	0.433000										HNSCC(13;0.011)				45			61		0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221857	5221857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5221857C>T	uc010qyz.2	-	0	74	c.74G>A	c.(73-75)gGa>gAa	p.G25E		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G25E(2)|p.T24P(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCAGAAAATCCAGTGAGAAG	0.438000														62			16		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140277670	140277670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:140277670C>T	uc003etn.3	+	11	2202	c.2012C>T	c.(2011-2013)aCc>aTc	p.T671I		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	671					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TTCGCCAAAACCGAAGCCCCC	0.522000										HNSCC(16;0.037)				33			7		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79322150	79322150	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:79322150G>A	uc010mpk.3	-	7	5164	c.5040C>T	c.(5038-5040)gtC>gtT	p.V1680V	PRUNE2_uc022bih.1_Silent_p.V1502V	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1680					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTGTTGAAATGACCCTGGCAT	0.468000														20			10		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37603281	37603281	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:37603281G>A	uc002yvg.3	+	13	2278	c.2199G>A	c.(2197-2199)gaG>gaA	p.E733E	DOPEY2_uc011aeb.2_Silent_p.E733E	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	733					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGATGTTGAGAAGGTGGTCA	0.582000														60			21		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096242	167096242	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:167096242G>A	uc001geb.1	+	4	1890	c.1874G>A	c.(1873-1875)cGg>cAg	p.R625Q		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	625					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AAGAGACAACGGAGGCTGGAG	0.617000														27			8		0	0	1	0	0
ACSM3	6296	broad.mit.edu	37	16	20803432	20803432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:20803432G>A	uc010vba.2	+	10	1597	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N	ACSM3_uc002dhr.3_Missense_Mutation_p.D479N|ERI2_uc002dhs.3_Intron	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.	479					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AAGAGCAGATGATGTCATATT	0.393000														46			56		0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38189210	38189210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:38189210C>T	uc002ohc.2	-	4	2418	c.1822G>A	c.(1822-1824)Gag>Aag	p.E608K	ZNF607_uc002ohb.2_Missense_Mutation_p.E607K	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA.	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TGAATTCTCTCATGAATAATA	0.378000														23			24		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81702205	81702205	+	Silent	SNP	C	T	T	rs139257328		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:81702205C>T	uc001kbh.3	-	3	415	c.372G>A	c.(370-372)ggG>ggA	p.G124G		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	124	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TCCCCTGCTTCCCCAGGGGAC	0.597000														33			18		0	0	1	0	0
ZNF76	7629	broad.mit.edu	37	6	35259093	35259093	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:35259093G>A	uc003oki.1	+	7	869	c.664G>A	c.(664-666)Gag>Aag	p.E222K	ZNF76_uc011dsy.1_Missense_Mutation_p.E222K|ZNF76_uc011dsz.1_Missense_Mutation_p.E222K|ZNF76_uc003okj.1_Missense_Mutation_p.E222K	NM_003427	NP_003418	P36508	ZNF76_HUMAN	Homo sapiens zinc finger protein 76 (ZNF76), mRNA.	222					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CCACACTGGTGAGAAACCATA	0.582000														25			6		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039926	31039926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:31039926G>A	uc002nsu.1	+	3	3538	c.3400G>A	c.(3400-3402)Gag>Aag	p.E1134K	ZNF536_uc010edd.1_Missense_Mutation_p.E1134K	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCCAACAAGGAGCCTGATGG	0.532000														35			11		0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11213363	11213363	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:11213363G>A	uc002mqk.4	+	2	401	c.214G>A	c.(214-216)Gac>Aac	p.D72N	LDLR_uc010xlk.2_Missense_Mutation_p.D72N|LDLR_uc010xll.2_Intron|LDLR_uc021upc.1_Intron|LDLR_uc010xln.2_Missense_Mutation_p.D72N|LDLR_uc010xlo.2_Missense_Mutation_p.D72N|LDLR_uc010xlm.2_Intron|LDLR_uc021upd.1_5'UTR	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	72	LDL-receptor class A 2.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CAAATCCGGGGACTTCAGCTG	0.572000														320			86		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49009250	49009250	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:49009250C>T	uc003gyv.3	+	7	1275	c.1093C>T	c.(1093-1095)Cta>Tta	p.L365L	CWH43_uc011bzl.2_Silent_p.L338L	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	365					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						GCTGAATATGCTATTTGGTCC	0.323000														46			17		0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91686136	91686136	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:91686136G>A	uc004aqf.2	-	4	1068	c.761C>T	c.(760-762)tCc>tTc	p.S254F		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	254	PID.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						AGAGGCGAAGGAGATGGACCG	0.502000														1			25		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85781645	85781645	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:85781645C>T	uc003hpd.3	-	3	508	c.100G>A	c.(100-102)Gag>Aag	p.E34K	WDFY3_uc003hpf.3_Missense_Mutation_p.E34K	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	34						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGGCACAACTCCGTGAAGAGC	0.552000														81			37		0	0	1	0	0
SPINK13	153218	broad.mit.edu	37	5	147665576	147665576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:147665576C>T	uc003lpc.3	+	4	453	c.250C>T	c.(250-252)Cgt>Tgt	p.R84C	AK054753_uc003lpb.1_Intron|SPINK13_uc010jgt.3_Non-coding_Transcript	NM_001040129	NP_001035218	Q1W4C9	ISK13_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 13 (putative) (SPINK13), mRNA.	84	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			breast(2)|lung(3)	5						ATTTCATTATCGTATAAAATT	0.269000														40			11		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50599144	50599144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:50599144G>A	uc003bjj.3	+	24	3435	c.3352G>A	c.(3352-3354)Gat>Aat	p.D1118N	MOV10L1_uc003bjk.4_Intron|MOV10L1_uc011arp.2_Missense_Mutation_p.D1098N|MOV10L1_uc003bjl.3_Missense_Mutation_p.D245N	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	1118					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TAGATTTGAAGATGATCGATA	0.383000														26			18		0	0	1	0	0
GJA9	81025	broad.mit.edu	37	1	39341322	39341322	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:39341322C>T	uc021olr.1	-	0	449	c.449G>A	c.(448-450)aGa>aAa	p.R150K	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.3_5'Flank|MYCBP_uc021olq.1_Intron	NM_030772	NP_110399	P57773	CXA9_HUMAN	Homo sapiens gap junction protein, alpha 9, 59kDa (GJA9), mRNA.	150					cell communication	connexon complex|integral to membrane		p.L149L(2)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CAAGGTTCCTCTGAGTGGAGC	0.423000														23			26		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30704934	30704934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:30704934C>T	uc003xil.3	-	0	1600	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	534								p.E534*(2)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTAGAAAATTCTTCAGAACTC	0.333000														54			6		0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39140590	39140590	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:39140590G>A	uc004abi.3	-	11	2041	c.1802C>T	c.(1801-1803)cCg>cTg	p.P601L	CNTNAP3_uc004abj.3_Missense_Mutation_p.P601L|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.P601L|CNTNAP3_uc011lqs.1_Missense_Mutation_p.P508L	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	601	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AAGCCCAGACGGGTTCCCTCG	0.458000														4			35		0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150337310	150337310	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:150337310C>T	uc009wlr.3	+	0	321	c.120C>T	c.(118-120)tcC>tcT	p.S40S	RPRD2_uc010pcc.1_Silent_p.S40S|RPRD2_uc001eup.4_Silent_p.S40S	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	40	CID.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCATGGAGTCCATTCAAGGCT	0.522000														29			23		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11633007	11633007	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:11633007G>A	uc021zzo.1	-	2	1397	c.1145C>T	c.(1144-1146)cCt>cTt	p.P382L	THSD7A_uc021zzn.1_Missense_Mutation_p.P382L	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	382	TSP type-1 3.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AGTGCCTGCAGGGGACACCAT	0.502000										HNSCC(18;0.044)				84			10		0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50156268	50156268	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:50156268C>T	uc002poq.3	+	6	2746	c.2622C>T	c.(2620-2622)tcC>tcT	p.S874S		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	874					RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		AGAGTCGCTCCCCCTTCCTCA	0.657000														16			23		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46066470	46066470	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:46066470C>T	uc003gxb.3	-	4	765	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	205					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CTTGAAAATTCCAGTGGACAG	0.274000														45			18		0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138823170	138823170	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:138823170G>A	uc004faz.3	-	26	3222	c.3123C>T	c.(3121-3123)ttC>ttT	p.F1041F	ATP11C_uc004fax.3_Silent_p.F249F|ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Silent_p.F1041F	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	1041					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CTCCCCAGAAGAATGAGAAAA	0.363000														3			30		0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135787487	135787487	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:135787487G>A	uc003qgi.3	-	6	598	c.214C>T	c.(214-216)Ccc>Tcc	p.P72S	AHI1_uc003qgh.3_Missense_Mutation_p.P72S|AHI1_uc003qgj.3_Missense_Mutation_p.P72S|AHI1_uc003qgk.4_Non-coding_Transcript|AHI1_uc003qgl.3_Missense_Mutation_p.P72S	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	72						adherens junction|cilium|microtubule basal body		p.L71P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TTAATATGGGGAAGATTGCTT	0.333000														59			41		0	0	1	0	0
PPP1R32	220004	broad.mit.edu	37	11	61253371	61253371	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:61253371C>T	uc001nru.2	+	6	807	c.675C>T	c.(673-675)ctC>ctT	p.L225L	PPP1R32_uc009ynq.2_Silent_p.L225L	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 32 (PPP1R32), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	225																	CACAGGCCCTCCCTGGGGACC	0.557000														27			24		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107005328	107005328	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:107005328C>T	uc001kyi.1	+	20	3124	c.2897C>T	c.(2896-2898)tCc>tTc	p.S966F	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	966						integral to membrane	neuropeptide receptor activity	p.S966S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGCAGCATTTCCTTCACATTC	0.448000														72			19		0	0	1	0	0
TRIM16L	147166	broad.mit.edu	37	17	18635409	18635409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:18635409C>T	uc010cqg.1	+	5	765	c.731C>T	c.(730-732)tCc>tTc	p.S244F	TRIM16L_uc010vyf.1_Missense_Mutation_p.S196F|TRIM16L_uc002gug.1_Missense_Mutation_p.S142F|TRIM16L_uc002guh.1_Missense_Mutation_p.S142F|TRIM16L_uc002gui.1_Missense_Mutation_p.S142F|TRIM16L_uc010vyg.1_Missense_Mutation_p.S142F|TRIM16L_uc010vyh.1_Intron	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN	Homo sapiens tripartite motif containing 16-like (TRIM16L), mRNA.	142	B30.2/SPRY.					cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						TATTGGACTTCCAAACCTGAG	0.478000														36			50		0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6060173	6060173	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:6060173C>T	uc002wmr.3	-	13	2559	c.1770G>A	c.(1768-1770)ttG>ttA	p.L590L	FERMT1_uc002wmq.3_Silent_p.L143L|FERMT1_uc010gbt.3_Silent_p.L333L	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	590	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CAATTTTAATCAACCTGTTAT	0.363000														63			29		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423353	107423353	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:107423353G>A	uc002tdq.3	-	5	1490	c.1371C>T	c.(1369-1371)atC>atT	p.I457I	ST6GAL2_uc002tdr.3_Silent_p.I457I	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	457					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GCACGGATGGGATATATTCAT	0.507000														21			10		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195517463	195517463	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:195517463C>T	uc021xjp.1	-	1	1144	c.988G>A	c.(988-990)Gtg>Atg	p.V330M	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.V212M	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	335					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.K330N(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGGTCTCCACGCTCTGAGTC	0.453000														159			37		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25665839	25665839	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:25665839G>A	uc003grr.3	+	3	347	c.266G>A	c.(265-267)gGg>gAg	p.G89E	SLC34A2_uc003grs.3_Missense_Mutation_p.G88E|SLC34A2_uc010iev.3_Missense_Mutation_p.G88E	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	89					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GACACCAAAGGGAAGATTCTC	0.468000			T	ROS1	NSCLC									29			27		0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6296833	6296833	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:6296833C>T	uc003giy.3	+	6	944	c.778C>T	c.(778-780)Ccc>Tcc	p.P260S	WFS1_uc003gix.3_Missense_Mutation_p.P260S|WFS1_uc003giz.3_Missense_Mutation_p.P78S	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	260					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGGCGTCATCCCCAGCAGCCT	0.577000														108			86		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063117	9063117	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9063117C>T	uc002mkp.3	-	2	24533	c.24329G>A	c.(24328-24330)aGa>aAa	p.R8110K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8112	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCTGAATTCTGCTAGTCTC	0.493000														59			31		0	0	1	0	0
KIAA0146	23514	broad.mit.edu	37	8	48614415	48614415	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:48614415G>A	uc003xqd.3	+	12	1968	c.1906G>A	c.(1906-1908)Gac>Aac	p.D636N	KIAA0146_uc011ldb.2_Missense_Mutation_p.D636N|KIAA0146_uc010lxs.3_Missense_Mutation_p.D111N|KIAA0146_uc011ldc.2_Missense_Mutation_p.D566N|KIAA0146_uc011ldd.2_Missense_Mutation_p.D576N|KIAA0146_uc003xqe.3_Missense_Mutation_p.D111N|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc011lde.1_Missense_Mutation_p.D325N|KIAA0146_uc010lxt.3_Missense_Mutation_p.D325N|KIAA0146_uc011ldf.2_Missense_Mutation_p.D141N|KIAA0146_uc011ldg.2_Missense_Mutation_p.D126N|KIAA0146_uc010lxv.1_Missense_Mutation_p.D130N	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	Homo sapiens KIAA0146 (KIAA0146), mRNA.	636										central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Lung NSC(58;0.175)				CTGCTTAAGAGACATTCTCCA	0.418000														146			36		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62838965	62838965	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:62838965C>T	uc002yii.3	+	6	780	c.416C>T	c.(415-417)tCc>tTc	p.S139F	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	139					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCCGTCAAGTCCCATTTTGGA	0.577000														145			35		0	0	1	0	0
TBXA2R	6915	broad.mit.edu	37	19	3600469	3600469	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:3600469C>T	uc002lyg.2	-	1	551	c.164G>A	c.(163-165)gGg>gAg	p.G55E	TBXA2R_uc021umv.1_Missense_Mutation_p.G55E	NM_001060	NP_001051	P21731	TA2R_HUMAN	Homo sapiens thromboxane A2 receptor (TBXA2R), transcript variant a, mRNA.	55					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	GTGCGAACCCCCCTGCCGCGC	0.701000														19			13		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10443912	10443912	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:10443912C>T	uc003bvt.3	-	3	957	c.518G>A	c.(517-519)tGg>tAg	p.W173*	ATP2B2_uc003bvv.3_Nonsense_Mutation_p.W173*|ATP2B2_uc003bvw.3_Nonsense_Mutation_p.W173*|ATP2B2_uc010hdp.2_Nonsense_Mutation_p.W173*|ATP2B2_uc010hdo.3_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	173					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTCTTTGCTCCAGTCATTGAA	0.597000														136			52		0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44053046	44053046	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:44053046T>A	uc001jaw.4	-	1	1135	c.482A>T	c.(481-483)aAa>aTa	p.K161I	ZNF239_uc001jax.4_Missense_Mutation_p.K161I|ZNF239_uc009xmj.3_Missense_Mutation_p.K161I|ZNF239_uc009xmk.3_Missense_Mutation_p.K161I|ZNF239_uc021pph.1_Missense_Mutation_p.K161I	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CACCTGTGATTTCCATCCATG	0.448000														62			68		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20065598	20065598	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:20065598C>T	uc010rdm.2	+	13	3409	c.3048C>T	c.(3046-3048)gaC>gaT	p.D1016D	NAV2_uc001mpp.3_Silent_p.D929D|NAV2_uc001mpr.4_Silent_p.D993D|NAV2_uc021qew.1_Silent_p.D993D|NAV2_uc001mpt.2_Silent_p.D79D|NAV2_uc009yhx.3_Silent_p.D79D|NAV2_uc009yhy.1_5'UTR	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	1016						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						AGAAATCAGACGGAGGCTCAG	0.517000														71			18		0	0	1	0	0
RNF31	55072	broad.mit.edu	37	14	24618631	24618631	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:24618631C>T	uc001wmn.1	+	5	897	c.648C>T	c.(646-648)ccC>ccT	p.P216P	PSME2_uc001wmj.3_5'Flank|RNF31_uc001wml.1_Silent_p.P65P|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Silent_p.P31P|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	216	Polyubiquitin-binding.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CTCCTGGTCCCTGCTTCCTCT	0.562000														85			19		0	0	1	0	0
OSBPL2	9885	broad.mit.edu	37	20	60847299	60847299	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:60847299C>T	uc002yck.1	+	4	579	c.377C>T	c.(376-378)cCc>cTc	p.P126L	OSBPL2_uc002ycl.1_Missense_Mutation_p.P114L|OSBPL2_uc011aah.1_Missense_Mutation_p.P34L	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 2, mRNA.	126					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			CAGCCCCAGCCCCTGGAGAGG	0.607000														81			17		0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53015110	53015110	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53015110C>T	uc002pzp.4	+	5	1720	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ACAAGACCTTCAGTCACAGGT	0.398000														56			12		0	0	1	0	0
C1QB	713	broad.mit.edu	37	1	22987483	22987483	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:22987483C>T	uc001bgd.3	+	2	498	c.366C>T	c.(364-366)atC>atT	p.I122I		NM_000491	NP_000482	P02746	C1QB_HUMAN	Homo sapiens complement component 1, q subcomponent, B chain (C1QB), mRNA.	122	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCAGAAAATCGCCTTCTCTG	0.617000														9			64		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389276	48389276	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:48389276T>C	uc001jez.3	-	0	1716	c.1602A>G	c.(1600-1602)caA>caG	p.Q534Q		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	534	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACACCCCACGTTGGGTGCTGT	0.652000														33			13		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56140624	56140624	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:56140624G>A	uc002xyn.4	+	9	1796	c.1633G>A	c.(1633-1635)Gat>Aat	p.D545N	PCK1_uc010zzm.2_Missense_Mutation_p.D228N	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	545					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CAACCGGATCGATGGAAAAGC	0.542000														69			23		0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57224838	57224838	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:57224838C>T	uc010lyk.1	-	2	981	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	SDR16C5_uc003xsy.1_Missense_Mutation_p.E115K|SDR16C5_uc010lyl.1_Intron	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	115					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TCGCCGACTTCTTTTTTAACC	0.373000														38			16		0	0	1	0	0
KIAA1524	57650	broad.mit.edu	37	3	108272529	108272529	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:108272529C>T	uc003dxb.4	-	18	2642	c.2373G>A	c.(2371-2373)caG>caA	p.Q791Q		NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	791						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						CTAGCTGATTCTGTACTTCTT	0.284000														14			5		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13761720	13761720	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:13761720G>A	uc001rbt.2	-	8	2006	c.1827C>T	c.(1825-1827)ctC>ctT	p.L609L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	609					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|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCAGACCCCAGAGCAACCAAA	0.507000														71			16		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458880	45458880	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:45458880C>T	uc001rol.3	-	0		c.315G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		CTCAGCTCTCCGTTTGGATGT	0.458000														13			12		0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43127859	43127859	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:43127859G>A	uc001jaf.1	-	2	153	c.38C>T	c.(37-39)tCa>tTa	p.S13L	ZNF33B_uc009xmg.1_Missense_Mutation_p.S13L|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_5'UTR	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.	13	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						ATCTTTAAATGATACTGACCC	0.453000														36			8		0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194080301	194080301	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:194080301G>A	uc003ftt.3	-	2	1615	c.1490C>T	c.(1489-1491)cCa>cTa	p.P497L	LRRC15_uc003ftu.3_Missense_Mutation_p.P491L|LRRC15_uc021xiy.1_Missense_Mutation_p.P491L	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	491						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GGGTGTGTCTGGGTACCATGG	0.517000														19			11		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9108305	9108305	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:9108305G>A	uc003jek.2	-	15	2732	c.2020C>T	c.(2020-2022)Caa>Taa	p.Q674*		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	674	TSP type-1 3.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CGGCGAGCTTGAATGCCACCC	0.552000														8			12		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77400841	77400841	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:77400841G>A	uc004ajl.1	-	20	3106	c.2868C>T	c.(2866-2868)ttC>ttT	p.F956F	TRPM6_uc004ajk.1_Silent_p.F951F|TRPM6_uc022bib.1_Silent_p.F951F|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	956					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCACAGCAAAGAAGTCCAGGA	0.423000														9			76		0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45439720	45439720	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:45439720G>A	uc001zus.1	+	19	2758	c.2412G>A	c.(2410-2412)agG>agA	p.R804R	DUOX1_uc001zut.1_Silent_p.R804R|DUOX1_uc010bee.1_Silent_p.R184R|DUOX1_uc001zuu.3_5'Flank	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	804					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AGCTGAGCAGGGCCGAGTTTG	0.627000														19			13		0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71512661	71512661	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:71512661G>A	uc001dfn.3	-	0	831	c.600C>T	c.(598-600)acC>acT	p.T200T	PTGER3_uc001dfg.1_Silent_p.T200T|PTGER3_uc001dfh.1_Non-coding_Transcript|PTGER3_uc001dfi.1_Non-coding_Transcript|PTGER3_uc001dfk.1_Silent_p.T200T|PTGER3_uc001dfj.1_Non-coding_Transcript|PTGER3_uc001dfl.1_Silent_p.T200T|PTGER3_uc009wbm.1_Silent_p.T200T|PTGER3_uc001dfm.1_Non-coding_Transcript|PTGER3_uc009wbn.2_Silent_p.T200T|PTGER3_uc009wbo.3_Silent_p.T200T|PTGER3_uc001dfo.3_Silent_p.T200T|PTGER3_uc001dfp.1_Silent_p.T200T|PTGER3_uc001dfq.3_Silent_p.T200T|ZRANB2-AS1_uc001dfr.3_Non-coding_Transcript	NM_198716	NP_942009	P43115	PE2R3_HUMAN	Homo sapiens prostaglandin E receptor 3 (subtype EP3) (PTGER3), transcript variant 6, mRNA.	200					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GCCACTGGACGGTGTACTGGC	0.677000														14			13		0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18234177	18234177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:18234177G>A	uc001rdq.3	-	5	760	c.566C>T	c.(565-567)tCa>tTa	p.S189L		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	189	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TTTGGCCATTGATTTAGATCC	0.368000														24			15		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103491497	103491497	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:103491497G>A	uc001dum.3	-	5	1110	c.792C>T	c.(790-792)tcC>tcT	p.S264S	COL11A1_uc001duk.3_Intron|COL11A1_uc001dul.3_Intron|COL11A1_uc001dun.3_Intron|COL11A1_uc009weh.3_Intron	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	264	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTTGAAATTGGATTTCTTTT	0.343000														7			45		0	0	1	0	0
KDM4A	9682	broad.mit.edu	37	1	44149399	44149399	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:44149399C>T	uc001cjx.3	+	11	1945	c.1779C>T	c.(1777-1779)tcC>tcT	p.S593S	KDM4A_uc010oki.2_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	Homo sapiens lysine (K)-specific demethylase 4A (KDM4A), mRNA.	593					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						ATAAGAAGTCCAAGGGACGCC	0.463000														25			16		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21856132	21856132	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:21856132G>A	uc003svc.3	+	64	10432	c.10401G>A	c.(10399-10401)acG>acA	p.T3467T		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3467	AAA 5 (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						CCATGTTGACGGATGATGCTA	0.478000									Kartagener syndrome					27			14		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136093	55136093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55136093C>T	uc010rif.2	+	0	734	c.734C>T	c.(733-735)tCc>tTc	p.S245F		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATCCTGCTTTCCTATGGGGTC	0.428000														46			35		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3265685	3265685	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:3265685C>T	uc022aqr.1	-	13	2197	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K	CSMD1_uc011kwj.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	604	CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCCCATATTCCTCTGGATAA	0.373000														17			12		0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64030187	64030187	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:64030187C>T	uc009ypi.3	+	18	2389	c.2262C>T	c.(2260-2262)ctC>ctT	p.L754L	PLCB3_uc009ypg.2_Silent_p.L754L|PLCB3_uc009yph.2_Silent_p.L687L	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	754	C2.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TGTTTGGCCTCCCTGTTGATA	0.627000														99			29		0	0	1	0	0
LGALS4	3960	broad.mit.edu	37	19	39303084	39303084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:39303084C>T	uc002ojg.3	-	1	335	c.121G>A	c.(121-123)Gag>Aag	p.E41K	LGALS4_uc010xuj.2_Missense_Mutation_p.E41K	NM_006149	NP_006140	P56470	LEG4_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 4 (LGALS4), mRNA.	41	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TTCATGTGCTCGCTGGCCACT	0.627000														59			11		0	0	1	0	0
C1orf105	92346	broad.mit.edu	37	1	172417669	172417669	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:172417669A>T	uc001gik.3	+	2	394	c.196A>T	c.(196-198)Aag>Tag	p.K66*		NM_139240	NP_640333	O95561	CA105_HUMAN	Homo sapiens chromosome 1 open reading frame 105 (C1orf105), mRNA.	66										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						TGTTTTATCTAAGGTACTAAA	0.343000														48			42		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94145904	94145904	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:94145904C>T	uc011cdt.2	+	6	1361	c.1103C>T	c.(1102-1104)tCc>tTc	p.S368F	GRID2_uc011cdu.2_Missense_Mutation_p.S273F|GRID2_uc010ikz.1_Missense_Mutation_p.S49F	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	368					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGTGGGCGCTCCATGTTGGAG	0.398000														36			5		0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745540	77745540	+	Nonsense_Mutation	SNP	A	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:77745540A>C	uc002snr.3	-	2	1870	c.1455T>G	c.(1453-1455)taT>taG	p.Y485*	LRRTM4_uc002snq.3_Nonsense_Mutation_p.Y485*|LRRTM4_uc002sns.2_Nonsense_Mutation_p.Y485*|LRRTM4_uc002snt.2_Nonsense_Mutation_p.Y486*	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	485						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TGTAGTCCACATAATACTCCT	0.463000														19			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641161	179641161	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179641161C>T	uc021vsy.1	-	27	5655	c.5430G>A	c.(5428-5430)agG>agA	p.R1810R	TTN_uc021vsz.1_Silent_p.R1764R|TTN_uc021vta.1_Silent_p.R1764R|TTN_uc021vtb.1_Silent_p.R1764R|TTN_uc002unb.2_Silent_p.R1810R|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1810							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E1810D(1)|p.G1809G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAAGCCTTTCCTCCCCTCAG	0.413000														64			24		0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93173037	93173037	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:93173037G>A	uc001tck.3	-	24	3773	c.3508C>T	c.(3508-3510)Cag>Tag	p.Q1170*		NM_003566	NP_003557	Q15075	EEA1_HUMAN	Homo sapiens early endosome antigen 1 (EEA1), mRNA.	1170	Glu/Lys-rich.				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						AATTTCTGCTGAATTAGAAGC	0.363000														2			24		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434655	179434655	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179434655G>A	uc021vsy.1	-	274	68725	c.68500C>T	c.(68500-68502)Cct>Tct	p.P22834S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P16529S|TTN_uc021vta.1_Missense_Mutation_p.P16462S|TTN_uc021vtb.1_Missense_Mutation_p.P16337S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23761	Ig-like 117.						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)			TTATAAATAGGATCACAAGCC	0.423000														32			13		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20762657	20762657	+	Missense_Mutation	SNP	G	A	A	rs139378066		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:20762657G>A	uc010kuh.3	+	20	2677	c.2440G>A	c.(2440-2442)Ggc>Agc	p.G814S	ABCB5_uc003suw.4_Missense_Mutation_p.G369S|ABCB5_uc003sux.1_5'UTR	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	369					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTCCAGGATTGGCGTCTTAAC	0.358000														96			12		0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10747352	10747352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:10747352C>T	uc002mpf.3	+	15	1650	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	SLC44A2_uc002mpe.4_Missense_Mutation_p.S502F|SLC44A2_uc002mpg.1_Missense_Mutation_p.S224F|SLC44A2_uc002mph.3_Missense_Mutation_p.S53F	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	504					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CACACAGGCTCCCTGGCCTTT	0.657000														22			4		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21063005	21063006	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:21063005_21063006GG>AA	uc010vbe.2	-	28	4223_4224	c.4223_4224CC>TT	c.(4222-4224)acc>aTT	p.T1408I		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1408	AAA 1 (By similarity).				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)		AGCAGCGGTCGGTGAGGGGTGT	0.559000														36			47		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24342819	24342819	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:24342819G>A	uc003xeb.3	+	9	1018	c.905G>A	c.(904-906)gGa>gAa	p.G302E	ADAM7_uc003xec.3_Missense_Mutation_p.G74E	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	302	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.G302E(4)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CATGTGCAAGGAATTTCTTAT	0.343000														55			30		0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72945424	72945424	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:72945424C>T	uc010wrr.2	+	6	1704	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F	OTOP3_uc010wrq.2_Silent_p.F550F	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	568						integral to membrane|intracellular	zinc ion binding	p.W567*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AGATATGGTTCGCCATCGTCA	0.587000														54			59		0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52741452	52741452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:52741452C>T	uc001wzq.3	+	1	952	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C		NM_000953	NP_000944	Q13258	PD2R_HUMAN	Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA.	284						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	AAAACAGTATCGCGCTTACTA	0.398000														16			4		0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81102314	81102314	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:81102314G>A	uc001szf.2	+	1	622	c.531G>A	c.(529-531)gcG>gcA	p.A177A		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	177					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TTGAGGGTGCGGATTTCCTGC	0.582000														88			27		0	0	1	0	0
TRA@	6955	broad.mit.edu	37	14	22111803	22111803	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:22111803G>A	uc001wbk.3	+	1	407	c.374G>A	c.(373-375)aGa>aAa	p.R125K						Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 114.																		TGTGCTGTGAGAGACACGGTG	0.473000			T	"""ATL,OLIG2, MYC, TCL1A, TCL6, MTCP1, TCL6"""	T-ALL									48			16		0	0	1	0	0
C7orf62	219557	broad.mit.edu	37	7	88424122	88424122	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:88424122G>A	uc003ujv.3	-	1	317	c.135C>T	c.(133-135)ttC>ttT	p.F45F	ZNF804B_uc011khi.2_Intron|C7orf62_uc022ahc.1_Silent_p.F45F	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	Homo sapiens chromosome 7 open reading frame 62 (C7orf62), mRNA.	45										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TATCAAGAAGGAATTTCTTTA	0.388000														67			49		0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49230406	49230406	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:49230406C>T	uc002pki.3	-	6	2078	c.1881G>A	c.(1879-1881)gaG>gaA	p.E627E	RASIP1_uc002pkh.3_5'Flank	NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Homo sapiens Ras interacting protein 1 (RASIP1), mRNA.	627	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CGGGGACCCCCTCAGGGTGGC	0.547000														23			25		0	0	1	0	0
ZC2HC1C	79696	broad.mit.edu	37	14	75537901	75537901	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:75537901G>A	uc001xrh.3	+	1	798	c.625G>A	c.(625-627)Gag>Aag	p.E209K	ZC2HC1C_uc001xri.3_Missense_Mutation_p.E209K	NM_024643	NP_078919	Q53FD0	F164C_HUMAN	Homo sapiens family with sequence similarity 164, member C (FAM164C), transcript variant 1, mRNA.	209																	TGACAGGACGGAGTGGGTGCA	0.527000														136			27		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76744384	76744384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:76744384C>T	uc003pik.1	-	2	552	c.422G>A	c.(421-423)gGa>gAa	p.G141E		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	141					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.G141E(2)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GAAGTTTTTTCCAATGTCAAA	0.507000														28			25		0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58022621	58022621	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:58022621G>A	uc001spg.1	-	7	1309	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	B4GALNT1_uc010sru.2_Missense_Mutation_p.R238W|B4GALNT1_uc010srv.2_Missense_Mutation_p.R260W	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	293					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.R293L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			ATGAGAGCCCGTAGCCGATCA	0.582000														34			30		0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1267594	1267594	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:1267594C>T	uc010nyk.2	+	2	683	c.683C>T	c.(682-684)gCc>gTc	p.A228V		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	Homo sapiens taste receptor, type 1, member 3 (TAS1R3), mRNA.	228					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	ATCTTCTCGGCCCTGGCCGCG	0.731000														8			4		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134752115	134752115	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:134752115C>T	uc021qbc.1	-	4	615	c.514G>A	c.(514-516)Gag>Aag	p.E172K	TTC40_uc001llt.2_Missense_Mutation_p.E172K|TTC40_uc001llu.3_Missense_Mutation_p.E172K	NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	0								p.K171R(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GCACGCCACTCCTTGTCTTCC	0.607000														29			44		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839557	62839557	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:62839557C>T	uc002yii.3	+	6	1372	c.1008C>T	c.(1006-1008)ccC>ccT	p.P336P	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	336					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CACCCAGTCCCAAGCCTGAGT	0.582000														220			30		0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566873	4566873	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:4566873C>T	uc010qyf.2	+	0	453	c.453C>T	c.(451-453)ctC>ctT	p.L151L		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	151					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)		TTGTTTCTCTCCTCCGGGGTG	0.527000														52			36		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56370234	56370234	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56370234G>A	uc002qmd.4	+	2	1897	c.1475G>A	c.(1474-1476)aGg>aAg	p.R492K	NLRP4_uc002qmf.3_Missense_Mutation_p.R417K|NLRP4_uc010etf.3_Missense_Mutation_p.R323K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	492							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAAAAAGCAAGGAGAGCACAT	0.418000														64			38		0	0	1	0	0
CNOT6L	246175	broad.mit.edu	37	4	78697514	78697514	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:78697514G>A	uc011ccd.2	-	1	169	c.38C>T	c.(37-39)cCt>cTt	p.P13L	CNOT6L_uc003hks.3_Missense_Mutation_p.P13L|CNOT6L_uc011cce.1_Missense_Mutation_p.P13L	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.	13					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						AGGATCTGGAGGATCATATTT	0.358000														45			27		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141130635	141130635	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:141130635C>T	uc002tvj.1	-	68	11682	c.10710G>A	c.(10708-10710)tgG>tgA	p.W3570*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3570	LDL-receptor class A 27.				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)		CATCACATTTCCATTTTGCTG	0.358000										TSP Lung(27;0.18)				64			28		0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50131544	50131544	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:50131544C>T	uc010njr.2	-	12	2043	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	667					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ATGATCATCTCTGTGGGGTAC	0.517000														1			11		0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686623	54686623	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:54686623C>T	uc009znk.3	-	1	1167	c.657G>A	c.(655-657)cgG>cgA	p.R219R	NFE2_uc001sfq.3_Silent_p.R219R|NFE2_uc001sfr.4_Silent_p.R219R|NFE2_uc009znl.3_Silent_p.R219R	NM_006163	NP_006154	Q16621	NFE2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA.	219					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	PML body|actin cytoskeleton|cytoplasm	WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						CTGCCTCCCCCCGTGCAGTGG	0.582000														33			8		0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42703483	42703483	+	Splice_Site	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:42703483A>G	uc001zpn.1	+	23	2687	c.2381_splice	c.e23-2	p.R794_splice	CAPN3_uc001zpk.1_Splice_Site_p.R561_splice|CAPN3_uc001zpl.1_Splice_Site_p.R701_splice|CAPN3_uc010udf.1_Splice_Site_p.R707_splice|CAPN3_uc010udg.1_Splice_Site_p.R659_splice|CAPN3_uc001zpo.1_Splice_Site_p.R788_splice|CAPN3_uc001zpp.1_Splice_Site_p.R702_splice|CAPN3_uc001zpq.1_Splice_Site_p.R282_splice|CAPN3_uc010bcv.1_Splice_Site_p.R129_splice|CAPN3_uc001zpr.1_Splice_Site_p.R129_splice|CAPN3_uc001zps.1_Splice_Site_p.R129_splice|CAPN3_uc001zpt.1_Splice_Site_p.R129_splice	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	794	Domain IV.|EF-hand 4.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ATTCTTTCACAGGAGCTTTTC	0.502000														87			17		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103141269	103141269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:103141269C>T	uc022ajr.1	-	52	8750	c.8590G>A	c.(8590-8592)Gga>Aga	p.G2864R	RELN_uc022ajq.1_Missense_Mutation_p.G2864R|RELN_uc010liz.3_Missense_Mutation_p.G2864R	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2864	EGF-like 7.				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)		AAGCAATCTCCATGGCCCCTG	0.507000														85			80		0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57458438	57458438	+	Missense_Mutation	SNP	G	A	A	rs138462668	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:57458438G>A	uc004dvc.3	+	7	1233	c.1084G>A	c.(1084-1086)Gca>Aca	p.A362T		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	362						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GTTGTGGATCGCAATGATGTC	0.348000										HNSCC(52;0.14)				4			30		0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203186055	203186055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:203186055C>T	uc001gzn.2	-	10	1459	c.1363G>A	c.(1363-1365)Gtg>Atg	p.V455M	CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_Missense_Mutation_p.V217M|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Missense_Mutation_p.V446M	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	455	Chitin-binding type-2.				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TTGCTGAACACCAGGCCTGTC	0.602000											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		133			23		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126791215	126791215	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:126791215G>A	uc003kuh.4	+	24	3510	c.3148G>A	c.(3148-3150)Gag>Aag	p.E1050K	MEGF10_uc003kui.4_Missense_Mutation_p.E1050K	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	1050	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGGTTATGTGGAGATGAAATC	0.443000														29			34		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150817138	150817138	+	Silent	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:150817138A>G	uc004fev.4	+	8	1013	c.681A>G	c.(679-681)gaA>gaG	p.E227E		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	227						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TGTACGTTGAACCCgctgctg	0.433000														3			68		0	0	1	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84906636	84906636	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:84906636C>T	uc010voh.1	+	9	1247	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fim.2_Silent_p.I340I|CRISPLD2_uc002fin.4_Silent_p.I340I	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	Homo sapiens cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2), mRNA.	340	LCCL 1.					extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						ACTACGGGATCCTGGATGACA	0.567000														10			69		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507202	155507202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:155507202G>A	uc003iod.1	-	4	1437	c.1379C>T	c.(1378-1380)tCa>tTa	p.S460L	FGA_uc003ioe.1_Missense_Mutation_p.S460L|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	460					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTTAGAGCATGAACGACGCGT	0.468000														129			136		0	0	1	0	0
FCHSD1	89848	broad.mit.edu	37	5	141021112	141021112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:141021112G>A	uc003llk.3	-	19	2077	c.2026C>T	c.(2026-2028)Ccg>Tcg	p.P676S	FCHSD1_uc010jgg.3_Missense_Mutation_p.P359S|FCHSD1_uc003llj.3_Non-coding_Transcript	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	Homo sapiens FCH and double SH3 domains 1 (FCHSD1), mRNA.	676	Pro-rich.								FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAGCCGGCGGGGGAGGTGGT	0.582000														12			4		0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222347194	222347194	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:222347194G>A	uc002vmq.3	-	4	1238	c.1196C>T	c.(1195-1197)tCc>tTc	p.S399F	EPHA4_uc002vmr.2_Missense_Mutation_p.S399F|EPHA4_uc010zlm.1_Missense_Mutation_p.S340F	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	399	Fibronectin type-III 1.		S -> F (in a metastatic melanoma sample; somatic mutation).			integral to plasma membrane	ATP binding|ephrin receptor activity	p.S399F(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GTCAGTGATGGAGACTTTGGT	0.502000														106			54		0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54963330	54963330	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:54963330G>A	uc001sgd.2	+	5	804	c.411_splice	c.e5-1	p.R137_splice	PDE1B_uc010soz.2_Splice_Site|PDE1B_uc010spa.1_Splice_Site_p.R96_splice|PDE1B_uc001sge.3_Splice_Site_p.R117_splice|PDE1B_uc001sgf.3_Splice_Site|PDE1B_uc009znq.3_Intron	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	137					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TCTCTCTCAGGATGTTCCGGA	0.517000														24			32		0	0	1	0	0
FAM20A	54757	broad.mit.edu	37	17	66533873	66533873	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:66533873C>T	uc002jho.3	-	10	1659	c.1371G>A	c.(1369-1371)aaG>aaA	p.K457K	FAM20A_uc010wqp.2_Silent_p.K319K|FAM20A_uc002jhn.3_Silent_p.K168K	NM_017565	NP_001230675	Q96MK3	FA20A_HUMAN	Homo sapiens family with sequence similarity 20, member A (FAM20A), transcript variant 1, mRNA.	457						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					AAAGTGTTTTCTTTTTTATCC	0.448000														18			4		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103908	168103908	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:168103908G>A	uc002udx.3	+	8	6095	c.6006G>A	c.(6004-6006)ggG>ggA	p.G2002G	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.G1827G|XIRP2_uc010fpq.3_Silent_p.G1780G|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1827					actin cytoskeleton organization	cell junction	actin binding	p.M2001I(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						AAACTATGGGGAAATCTTGCC	0.448000														37			16		0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160864705	160864705	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:160864705G>A	uc003qti.3	+	8	1468	c.1441G>A	c.(1441-1443)Gga>Aga	p.G481R	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	481						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		TGATTTTGGGGGAATCATAGC	0.398000														24			8		0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12277206	12277206	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:12277206T>G	uc001mjz.3	+	22	3152	c.2864T>G	c.(2863-2865)gTg>gGg	p.V955G	MICAL2_uc010rch.1_Missense_Mutation_p.V765G|MICAL2_uc001mka.3_Missense_Mutation_p.V955G|MICAL2_uc010rci.2_Missense_Mutation_p.V934G|MICAL2_uc001mkb.3_Intron|MICAL2_uc001mkc.3_Intron|MICAL2_uc001mkd.3_Intron|MICAL2_uc010rcj.2_Missense_Mutation_p.V167G|MICAL2_uc001mkf.3_Non-coding_Transcript	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	955						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GTAGGGAAAGTGTCCAGCGGA	0.537000														14			9		0	0	1	0	0
ACSF2	80221	broad.mit.edu	37	17	48551589	48551589	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:48551589C>T	uc010wmm.1	+	15	1937	c.1833C>T	c.(1831-1833)atC>atT	p.I611I	ACSF2_uc002iqu.2_Silent_p.I586I|ACSF2_uc010wml.1_Silent_p.I543I|ACSF2_uc010wmn.1_Silent_p.I573I|ACSF2_uc010wmo.1_Silent_p.I426I|ACSF2_uc010dbt.1_Silent_p.I90I	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.	586					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CGAAGTACATCGTGTTTGTCA	0.592000														78			90		0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39114963	39114963	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:39114963G>A	uc002hvo.1	-	6	1402	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W	KRT39_uc010wfm.1_Missense_Mutation_p.R189W	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	456	Tail.		R -> Q (in dbSNP:rs7213256).			intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				ACCAGTATCCGGGACAGGGGT	0.517000														51			65		0	0	1	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69419702	69419702	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:69419702G>A	uc004dxx.1	+	2	334	c.237G>A	c.(235-237)tgG>tgA	p.W79*		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	79					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GGACCCTATGGAAGTATTTCC	0.552000														7			10		0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184008852	184008852	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:184008852A>G	uc003fni.4	+	16	2251	c.2213A>G	c.(2212-2214)aAc>aGc	p.N738S	ECE2_uc011brh.1_Missense_Mutation_p.N591S|ECE2_uc003fnl.4_Missense_Mutation_p.N666S|ECE2_uc003fnm.4_Missense_Mutation_p.N620S|ECE2_uc003fnk.4_Missense_Mutation_p.N591S|ECE2_uc011bri.1_Missense_Mutation_p.N653S|ECE2_uc010hxv.3_3'UTR	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	738	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAAGAAGGGAACCTGCGGCCC	0.597000														86			29		0	0	1	0	0
KBTBD7	84078	broad.mit.edu	37	13	41768229	41768229	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:41768229G>A	uc001uxw.1	-	0	474	c.165C>T	c.(163-165)tcC>tcT	p.S55S	AK056182_uc001uxv.1_Intron	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 7 (KBTBD7), mRNA.	55							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		CGTCGTAGAAGGACTTGAGCT	0.607000														24			33		0	0	1	0	0
AGAP7	653268	broad.mit.edu	37	10	51464851	51464851	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:51464851G>A	uc001jio.3	-	6	1731	c.1605C>T	c.(1603-1605)tcC>tcT	p.S535S	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|DQ588224_uc021pqk.1_5'Flank	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	535	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CTTCCCTCGTGGACTTTTCTG	0.552000														43			82		0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101219918	101219918	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:101219918G>A	uc003dut.3	-	1	197	c.86C>T	c.(85-87)tCg>tTg	p.S29L	SENP7_uc003duu.3_Missense_Mutation_p.S29L|SENP7_uc003duv.3_Intron|SENP7_uc003duw.3_Missense_Mutation_p.S29L|SENP7_uc003dux.3_Intron	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	29					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCATACCTCCGATAAATCAGA	0.279000														28			14		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698526	103698526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:103698526G>A	uc001vpy.4	-	5	1601	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	335					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTTATAAAACGATGACTCTGG	0.373000														14			30		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373957	126373957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:126373957G>A	uc003ifj.4	+	8	11786	c.11786G>A	c.(11785-11787)gGa>gAa	p.G3929E	FAT4_uc011cgp.2_Missense_Mutation_p.G2227E|FAT4_uc003ifi.1_Missense_Mutation_p.G1407E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3929	EGF-like 3; calcium-binding (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGCAAAACTGGATACACAGGT	0.383000														39			54		0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39792092	39792092	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:39792092C>T	uc002xjp.1	+	8	985	c.864C>T	c.(862-864)atC>atT	p.I288I	PLCG1_uc002xjo.1_Silent_p.I288I|PLCG1_uc010zwe.1_5'Flank|PLCG1_uc010ggf.3_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	288					T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TACGAGAGATCGAGGAGCCAT	0.577000														50			15		0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56954888	56954888	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:56954888C>T	uc001njl.2	+	1	1107	c.960C>T	c.(958-960)ttC>ttT	p.F320F		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	290						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCACCAACTTCCTCCTGGGCA	0.572000														33			27		0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343914	248343914	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248343914C>T	uc010pzf.2	+	0	627	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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;0.0245)			TGCTTGTTTTCCCTGTTGCAA	0.418000														193			36		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151970798	151970798	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:151970798G>A	uc003wla.3	-	6	1223	c.1004C>T	c.(1003-1005)cCt>cTt	p.P335L		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	335					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACATCTTTCAGGAGCTTGGTC	0.388000			N		medulloblastoma									169			10		0	0	1	0	0
DAO	1610	broad.mit.edu	37	12	109288127	109288127	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:109288127G>A	uc001tnr.4	+	6	1267	c.596G>A	c.(595-597)cGg>cAg	p.R199Q	DAO_uc001tnq.4_Missense_Mutation_p.R133Q|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	199					glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding	p.R199W(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						CAGCCAGGCCGGGGGCAGATC	0.542000														12			14		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60886128	60886128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:60886128G>A	uc002ycq.3	-	73	10178	c.10111C>T	c.(10111-10113)Ctc>Ttc	p.L3371F	LAMA5_uc021wfw.1_Missense_Mutation_p.L3371F	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3371	Laminin G-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTCGCGGGAGGACGTGCATG	0.682000														45			13		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80749524	80749524	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:80749524G>A	uc001szd.3	+	45	5581	c.5575G>A	c.(5575-5577)Gat>Aat	p.D1859N	OTOGL_uc021rba.1_5'Flank|OTOGL_uc009zsg.2_5'Flank	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGCATGCACTGATAGTGAAGA	0.423000														28			29		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22170022	22170022	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:22170022G>A	uc021urr.1	-	2	371	c.222C>T	c.(220-222)tcC>tcT	p.S74S	ZNF208_uc002nqo.1_Silent_p.S74S|ZNF208_uc002nqq.3_Non-coding_Transcript	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACCTACCTGGGGATTCTTCCA	0.438000														19			6		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11835355	11835355	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:11835355G>A	uc002gne.3	+	63	12198	c.12130G>A	c.(12130-12132)Gag>Aag	p.E4044K	DNAH9_uc010coo.3_Missense_Mutation_p.E3262K|DNAH9_uc002gnf.3_Missense_Mutation_p.E356K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4044	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R4043R(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGTTCTCGGGAGACGGAGTT	0.498000														253			64		0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52961997	52961997	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:52961997C>T	uc001sap.1	-	6	1359	c.1311G>A	c.(1309-1311)atG>atA	p.M437I		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	437	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TGGCAATCTCCATGTCCAGGG	0.642000														31			12		0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201356080	201356080	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:201356080C>T	uc001gwm.3	-	2	644	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	LAD1_uc009wzu.1_Missense_Mutation_p.E159K	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	137						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						ATTTCCAGTTCCTTCTTGGAG	0.642000														84			43		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40368368	40368368	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:40368368G>A	uc002omp.4	-	27	12988	c.12980C>T	c.(12979-12981)tCc>tTc	p.S4327F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4327						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCCACGTAGGAAGCCAGAGC	0.632000														219			42		0	0	1	0	0
DES	1674	broad.mit.edu	37	2	220285375	220285375	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:220285375G>A	uc002vll.3	+	3	980	c.894G>A	c.(892-894)tcG>tcA	p.S298S		NM_001927	NP_001918	P17661	DESM_HUMAN	Homo sapiens desmin (DES), mRNA.	298	Coil 2B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	Z disc|cytosol	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGTACAAGTCGAAGGTGGGTG	0.602000														44			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594165	179594165	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179594165G>A	uc021vsy.1	-	60	15211	c.14986C>T	c.(14986-14988)Cga>Tga	p.R4996*	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.R1657*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5923	Ig-like 30.						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)			TTGCTGCTTCGAATTTCCCTG	0.453000														53			20		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163256735	163256735	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:163256735C>T	uc002uch.2	-	9	2600	c.2371G>A	c.(2371-2373)Gaa>Aaa	p.E791K		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	791					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTGAGAATTTCAATGGAGCCT	0.428000														41			18		0	0	1	0	0
HIGD2B	123346	broad.mit.edu	37	15	72968622	72968622	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:72968622G>A	uc002ava.3	-	2		c.618C>T								Homo sapiens HIG1 hypoxia inducible domain family, member 2B (HIGD2B), non-coding RNA.																		AAACCCTCTGGATTGCTGTAA	0.577000														6			6		0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	160994664	160994665	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:160994664_160994665CC>TT	uc002ubh.2	-	8	1168_1169	c.1153_1154GG>AA	c.(1153-1155)gga>AAa	p.G385K	ITGB6_uc010fou.2_Missense_Mutation_p.G385K|ITGB6_uc010zcq.1_Missense_Mutation_p.G343K|ITGB6_uc010fov.1_Missense_Mutation_p.G385K	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	385					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CAAGTTGAGTCCTTCAGTGTCT	0.436000														66			26		0	0	1	0	0
TSPY8	728403	broad.mit.edu	37	Y	9195492	9195492	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrY:9195492G>A	uc004frr.2	+	0	41	c.41G>A	c.(40-42)aGg>aAg	p.R14K	FAM197Y2P_uc022cjb.1_5'Flank|TSPY8_uc004frq.2_Missense_Mutation_p.R14K|TSPY8_uc022cjc.1_Non-coding_Transcript	NM_001243721	NP_001230650	A6NGL4	A6NGL4_HUMAN	Homo sapiens testis specific protein, Y-linked 8 (TSPY8), mRNA.	14					nucleosome assembly	nucleus											GTGCCAGAGAGGCTGCGGCAG	0.706000														35			6		0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42882663	42882663	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:42882663G>C	uc001uys.2	+	8	5366	c.5191G>C	c.(5191-5193)Gac>Cac	p.D1731H		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	1731	Ser-rich.				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TATTGGTGATGACAGCACTGG	0.363000														38			16		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51512900	51512900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:51512900G>A	uc003pah.1	-	62	11603	c.11327C>T	c.(11326-11328)tCc>tTc	p.S3776F		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3776					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.S3776S(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGGTCCCAGGGACTCTACTCT	0.413000														63			79		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277889	152277889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152277889G>A	uc001ezu.1	-	2	9509	c.9473C>T	c.(9472-9474)tCc>tTc	p.S3158F		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3158	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCACTTCTGGATCCTGACTG	0.552000									Ichthyosis					314			84		0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52842610	52842610	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:52842610G>A	uc003dfv.2	+	21	2622	c.2586G>A	c.(2584-2586)acG>acA	p.T862T	ITIH3_uc011bek.1_Silent_p.T670T	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	862					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GCATCGGCACGAAGGTTGTCT	0.527000														27			14		0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66468364	66468364	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:66468364T>C	uc001ojd.3	-	15	3278	c.3206A>G	c.(3205-3207)gAc>gGc	p.D1069G		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1069					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCGCAAGAAGTCCTGCAGCCG	0.677000														27			7		0	0	1	0	0
PNPLA3	80339	broad.mit.edu	37	22	44328960	44328960	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:44328960A>G	uc003bei.1	+	3	862	c.689A>G	c.(688-690)gAt>gGt	p.D230G	PNPLA3_uc010gzm.1_Non-coding_Transcript	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN	Homo sapiens patatin-like phospholipase domain containing 3 (PNPLA3), mRNA.	230					triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				GTCCCCCCGGATCTCAAGGTG	0.542000														28			35		0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23596140	23596140	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:23596140C>T	uc002zww.3	+	1	2030	c.1434C>T	c.(1432-1434)gtC>gtT	p.V478V	BCR_uc002zwx.3_Silent_p.V478V|BCR_uc011aiy.2_Silent_p.V67V|BCR_uc010gtx.1_5'UTR	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	478					regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						ATGCGCTGGTCTCGGGAGCCC	0.667000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									22			6		0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55012585	55012585	+	Silent	SNP	C	T	T	rs143359198	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:55012585C>T	uc002xxp.2	+	2	627	c.402C>T	c.(400-402)ccC>ccT	p.P134P	CASS4_uc002xxq.4_Silent_p.P134P|CASS4_uc010zze.1_Intron|CASS4_uc002xxr.2_Silent_p.P134P|CASS4_uc010gio.2_Silent_p.P134P	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	134					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	p.P134S(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						ATGAATTCCCCGACCCTCCCA	0.572000														209			30		0	0	1	0	0
OR51B6	390058	broad.mit.edu	37	11	5373574	5373574	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5373574C>T	uc010qzb.2	+	0	837	c.837C>T	c.(835-837)ttC>ttT	p.F279F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATCCACTTCCTTTTCCCAC	0.393000														63			46		0	0	1	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68719814	68719814	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:68719814C>T	uc003hdq.3	-	2	286	c.221G>A	c.(220-222)aGg>aAg	p.R74K	LOC550112_uc003hdl.4_Intron|TMPRSS11D_uc011caj.2_5'UTR	NM_004262	NP_004253	O60235	TM11D_HUMAN	Homo sapiens transmembrane protease, serine 11D (TMPRSS11D), mRNA.	74	SEA.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.R74K(2)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACTCAAAGTCCTGTATTCCTG	0.284000														34			16		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206166306	206166306	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:206166306G>A	uc002var.2	+	17	2718	c.2511G>A	c.(2509-2511)acG>acA	p.T837T	PARD3B_uc010fub.2_Silent_p.T837T|PARD3B_uc002vao.2_Silent_p.T837T|PARD3B_uc002vap.2_Silent_p.T775T|PARD3B_uc002vaq.2_Silent_p.T768T	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	837	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TCAAAAAAACgaaagagaagg	0.433000														30			9		0	0	1	0	0
PIAS2	9063	broad.mit.edu	37	18	44470728	44470728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:44470728G>A	uc002lck.3	-	1	501	c.314C>T	c.(313-315)cCt>cTt	p.P105L	PIAS2_uc010dnp.3_5'UTR|PIAS2_uc010xda.2_Intron|PIAS2_uc002lcl.3_Missense_Mutation_p.P105L|PIAS2_uc002lcm.3_Missense_Mutation_p.P105L|PIAS2_uc002lcn.1_Missense_Mutation_p.P109L	NM_004671	NP_004662	O75928	PIAS2_HUMAN	Homo sapiens protein inhibitor of activated STAT, 2 (PIAS2), transcript variant beta, mRNA.	105					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						TGAAGTGGAAGGCAACGAGTG	0.488000														10			9		0	0	1	0	0
LCN9	392399	broad.mit.edu	37	9	138557709	138557709	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:138557709C>T	uc004cgk.1	+	5	478	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S		NM_001001676	NP_001001676	Q8WX39	LCN9_HUMAN	Homo sapiens lipocalin 9 (LCN9), mRNA.	160						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		CCTTCCAGATCCCTGCTACTC	0.692000														5			4		0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64515365	64515365	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:64515365T>C	uc001dbj.2	+	2	565	c.166T>C	c.(166-168)Tct>Cct	p.S56P	ROR1_uc001dbi.4_Missense_Mutation_p.S56P	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	56	Ig-like C2-type.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GCTCACAGATTCTTACCTGAC	0.542000														8			47		0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020377	5020377	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5020377C>T	uc010qyu.2	+	0	165	c.165C>T	c.(163-165)tcC>tcT	p.S55S		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S55F(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATAGAATCCTCTCTCCATC	0.433000														83			25		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72993058	72993058	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:72993058G>A	uc002fck.3	-	1	1660	c.987C>T	c.(985-987)atC>atT	p.I329I	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	329					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			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)				TGTCTTTGCCGATCCCTTGGA	0.473000														24			16		0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113212622	113212622	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:113212622G>A	uc001vse.1	-	4	623	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	TUBGCP3_uc010tjq.1_Missense_Mutation_p.R136W|TUBGCP3_uc001vsf.3_Missense_Mutation_p.R146W|TUBGCP3_uc001vsg.1_Missense_Mutation_p.R146W	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	146					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TGGGCACTCCGATCTTGGTAG	0.602000														72			36		0	0	1	0	0
C20orf132	140699	broad.mit.edu	37	20	35776243	35776243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:35776243C>T	uc010zvu.2	-	10	1235	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	C20orf132_uc002xgk.3_Missense_Mutation_p.E65K|C20orf132_uc002xgm.2_Missense_Mutation_p.E382K|C20orf132_uc002xgn.2_Missense_Mutation_p.E347K	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	267										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				GCCACCTTTTCCTGTGGGTCC	0.527000														24			6		0	0	1	0	0
AK022382	0	broad.mit.edu	37	10	52389385	52389385	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:52389385C>T	uc001jjf.1	+	1		c.78C>T								Homo sapiens cDNA FLJ12320 fis, clone MAMMA1002082.																		TTCAGTTGTTCCCCCAAGCTC	0.532000														31			7		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577848	9577848	+	Missense_Mutation	SNP	C	T	T	rs149138221		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9577848C>T	uc002mlp.1	-	9	1985	c.1775G>A	c.(1774-1776)cGa>cAa	p.R592Q	ZNF560_uc010dwr.1_Missense_Mutation_p.R486Q	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R592Q(4)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ACTGTGTCTTCGTAAATGTTT	0.408000														72			18		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076700	9076700	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9076700G>A	uc002mkp.3	-	2	10950	c.10746C>T	c.(10744-10746)acC>acT	p.T3582T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3583	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGAAGACCAGGTGGAAGGGT	0.493000														51			42		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14862731	14862731	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:14862731C>T	uc003bzc.3	+	0	2263	c.2153C>T	c.(2152-2154)tCc>tTc	p.S718F	FGD5_uc011avk.2_Missense_Mutation_p.S718F	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	718					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GCTTCTGAATCCCCCTCCTCC	0.577000														52			11		0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122111485	122111485	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:122111485G>A	uc022akp.1	-	12	2540	c.2118C>T	c.(2116-2118)gaC>gaT	p.D706D	CADPS2_uc003vkg.4_Silent_p.D407D|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Silent_p.D707D|CADPS2_uc022akr.1_Silent_p.D710D	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	710					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GCAGGGTAGGGTCAATGACAG	0.453000														21			12		0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12575060	12575060	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:12575060G>A	uc002mtv.4	-	3	1837	c.1676C>T	c.(1675-1677)cCt>cTt	p.P559L	ZNF709_uc002mtw.4_Missense_Mutation_p.P527L|ZNF709_uc002mtx.4_Missense_Mutation_p.P559L	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						ACACTCATAAGGTTTCTCTCC	0.418000														54			36		0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54401230	54401230	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:54401230C>T	uc002qcq.1	+	9	1239	c.957C>T	c.(955-957)ccC>ccT	p.P319P	PRKCG_uc010yef.1_Missense_Mutation_p.P290L|PRKCG_uc010yeg.1_Silent_p.P319P|PRKCG_uc010yeh.1_Silent_p.P206P	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	319					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GGATGGGcccctcttcctctc	0.597000														127			34		0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95847389	95847389	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:95847389C>T	uc002suf.3	+	4	1278	c.816C>T	c.(814-816)tcC>tcT	p.S272S	ZNF2_uc002sug.3_Silent_p.S230S|ZNF2_uc010yue.2_Silent_p.S234S|ZNF2_uc010fhs.3_Silent_p.S192S	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	Homo sapiens zinc finger protein 2 (ZNF2), transcript variant 1, mRNA.	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		ACCGTTCATCCCTTACTCGAC	0.458000														57			38		0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128092	83128092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:83128092C>T	uc004eei.1	+	3	397	c.376C>T	c.(376-378)Cct>Tct	p.P126S	CYLC1_uc004eeh.1_Missense_Mutation_p.P125S	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	126					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	p.L126M(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AGGAGGAACACCTTTGAAGAA	0.358000														3			5		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117121802	117121802	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:117121802T>G	uc003pxj.1	-	3	1515	c.1493A>C	c.(1492-1494)aAt>aCt	p.N498T	GPRC6A_uc003pxk.1_Missense_Mutation_p.N323T|GPRC6A_uc003pxl.1_Intron	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	498					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GAAGACATCATTCTGTAGGTC	0.408000														38			23		0	0	1	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285925	248285925	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248285925G>A	uc001idy.1	+	0	488	c.488G>A	c.(487-489)gGa>gAa	p.G163E						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		ATGGGATCTGGAGAGGGTCGT	0.448000														233			47		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21802333	21802333	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:21802333C>T	uc010iuc.2	-	6	1657	c.1199G>A	c.(1198-1200)gGg>gAg	p.G400E	CDH12_uc011cno.1_Missense_Mutation_p.G360E|CDH12_uc003jgk.2_Missense_Mutation_p.G400E	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	400	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AATGATGGTCCCTACCGGAGT	0.483000										HNSCC(59;0.17)				62			5		0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50893737	50893737	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:50893737G>A	uc003blh.3	-	32	4665	c.4470C>T	c.(4468-4470)ttC>ttT	p.F1490F	SBF1_uc003ble.3_5'UTR|SBF1_uc011arx.2_Silent_p.F1128F	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1464	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CACGGTGGCTGAAGCGATGGC	0.642000														19			28		0	0	1	0	0
DQ656008	0	broad.mit.edu	37	11	5142675	5142675	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5142675C>T	uc001maa.3	-	3		c.724G>A								Homo sapiens clone Affy08256A04, mRNA sequence.																		TAGAGAATTTCCAATCAGAGC	0.433000														67			26		0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31617891	31617891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:31617891C>T	uc011kae.2	+	7	1103	c.1091C>T	c.(1090-1092)cCt>cTt	p.P364L	CCDC129_uc011kad.1_Missense_Mutation_p.P348L|CCDC129_uc003tcj.1_Missense_Mutation_p.P338L|CCDC129_uc003tci.1_Intron|CCDC129_uc003tck.1_Missense_Mutation_p.P246L	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	338								p.E364Q(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAGCAGTGGCCTTGCTCATCT	0.483000														78			11		0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1474290	1474290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:1474290G>A	uc003skj.4	-	16	2804	c.2657C>T	c.(2656-2658)tCc>tTc	p.S886F	MICALL2_uc003ski.4_Silent_p.V371V	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	886						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GCGGAACTTGGACTTCTTCCT	0.632000														131			16		0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649681	47649681	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:47649681C>T	uc010jzj.1	+	5	1387	c.1386C>T	c.(1384-1386)atC>atT	p.I462I	GPR111_uc003oyy.3_Silent_p.I394I	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	462					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Y461*(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GCAGCCTGATCCTTTGCTTGT	0.433000														121			17		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72119267	72119267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:72119267G>A	uc002atl.4	-	41	7774	c.7301C>T	c.(7300-7302)tCc>tTc	p.S2434F	MYO9A_uc002atk.3_Missense_Mutation_p.S1229F	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	2434	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACATAAAGAGGAGACCGAAGA	0.453000														54			19		0	0	1	0	0
STS	412	broad.mit.edu	37	X	7171258	7171258	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:7171258C>T	uc004cry.4	+	1	278	c.33C>T	c.(31-33)ctC>ctT	p.L11L	STS_uc004crw.2_Non-coding_Transcript|STS_uc011mhp.1_Non-coding_Transcript|STS_uc004crx.1_Non-coding_Transcript	NM_000351	NP_000342	P08842	STS_HUMAN	Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	11					female pregnancy|steroid catabolic process	Golgi apparatus|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	TCCCTTTCCTCCTACTGTTCT	0.527000									Ichthyosis					10			11		0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113442792	113442792	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:113442792C>T	uc001tuj.3	+	6	1373	c.1233C>T	c.(1231-1233)ctC>ctT	p.L411L	OAS2_uc001tui.1_Silent_p.L411L	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	411	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity	p.L411L(2)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ATGCCGATCTCGTCGTGTTCC	0.478000														41			27		0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77458147	77458147	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:77458147C>T	uc001oyn.3	-	2	426	c.306G>A	c.(304-306)tgG>tgA	p.W102*		NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	102					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			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)			TCTCCCATGCCCAGGTACTGT	0.323000														35			8		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103251224	103251224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:103251224C>T	uc022ajr.1	-	21	3086	c.2926G>A	c.(2926-2928)Gaa>Aaa	p.E976K	RELN_uc022ajq.1_Missense_Mutation_p.E976K|RELN_uc010liz.3_Missense_Mutation_p.E976K	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	976					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	p.Q975R(1)		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)		GATGTAAATTCCTGACAACTT	0.423000														68			19		0	0	1	0	0
CFLAR	8837	broad.mit.edu	37	2	202025520	202025520	+	Missense_Mutation	SNP	G	C	C	rs77962008	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:202025520G>C	uc002uxb.4	+	8	1624	c.1159G>C	c.(1159-1161)Gct>Cct	p.A387P	CFLAR_uc010zhk.2_Missense_Mutation_p.A291P|CFLAR_uc010zhl.2_Missense_Mutation_p.A291P|CFLAR_uc002uxc.4_Missense_Mutation_p.A352P|CFLAR_uc010fsw.2_Non-coding_Transcript|CFLAR_uc002uxd.4_Missense_Mutation_p.A387P|CFLAR_uc010fsx.3_Intron|CFLAR_uc010fsy.3_Non-coding_Transcript|CFLAR_uc002uxf.3_Missense_Mutation_p.A387P|CFLAR_uc010zhm.2_Missense_Mutation_p.A291P|CFLAR_uc010fsz.3_Missense_Mutation_p.A142P|CFLAR_uc002uxg.3_Missense_Mutation_p.A142P	NM_003879	NP_001189446	O15519	CFLAR_HUMAN	Homo sapiens CASP8 and FADD-like apoptosis regulator (CFLAR), transcript variant 1, mRNA.	387	Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						GGAATTCAAGGCTCAGAAGCG	0.542000														11			19		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78452854	78452854	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:78452854C>T	uc001syp.3	+	11	2768	c.2595C>T	c.(2593-2595)atC>atT	p.I865I	NAV3_uc001syo.3_Silent_p.I865I|NAV3_uc010sub.2_Silent_p.I365I	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	865						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCCGGGACATCATCCAGAGAG	0.398000										HNSCC(70;0.22)				32			10		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	15990627	15990627	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:15990627G>A	uc002nbs.1	-	9	1246	c.1196C>T	c.(1195-1197)tCc>tTc	p.S399F	CYP4F2_uc010xot.1_Missense_Mutation_p.S250F	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	399					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GACATGGCGGGAGATGACCGG	0.637000														55			59		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256963	24256963	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:24256963C>T	uc003xdz.2	+	9	1207	c.987C>T	c.(985-987)tcC>tcT	p.S329S	ADAMDEC1_uc010lub.2_Silent_p.S250S|ADAMDEC1_uc011lab.1_Silent_p.S250S	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	329	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CCTTGTGTTCCCCATCTTCGG	0.418000														49			23		0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184932422	184932422	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:184932422G>A	uc003ivz.1	+	2	3866	c.2431G>A	c.(2431-2433)Gaa>Aaa	p.E811K	STOX2_uc003iwa.1_Missense_Mutation_p.E500K	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	811					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GCGGGAGAAGGAAAGAGACTT	0.517000														23			7		0	0	1	0	0
PWWP2A	114825	broad.mit.edu	37	5	159520835	159520835	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:159520835G>A	uc011ded.2	-	1	879	c.822C>T	c.(820-822)ccC>ccT	p.P274P	PWWP2A_uc003lxv.4_Silent_p.P274P|PWWP2A_uc011dec.2_Silent_p.P274P	NM_001130864	NP_001124336	Q96N64	PWP2A_HUMAN	Homo sapiens PWWP domain containing 2A (PWWP2A), transcript variant 2, mRNA.	274	Pro-rich.							p.P274P(4)		kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAAACAAAGGGGGAGGATAAG	0.498000														53			114		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29055971	29055971	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:29055971C>T	uc002kws.3	+	15	2857	c.2748C>T	c.(2746-2748)gtC>gtT	p.V916V	DSG3_uc002kwt.3_Silent_p.V198V	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	916					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTGGGTCTGTCCAGCCAGCTG	0.522000														35			21		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046005	9046005	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9046005C>T	uc002mkp.3	-	4	35830	c.35626G>A	c.(35626-35628)Ggc>Agc	p.G11876S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11878	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCAGTAAGCCTGTAGTCTCT	0.493000														115			28		0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8527463	8527463	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:8527463A>G	uc010dwe.3	+	2	414	c.334A>G	c.(334-336)Agg>Ggg	p.R112G	HNRNPM_uc010dwc.1_Missense_Mutation_p.R112G|HNRNPM_uc010xke.1_Missense_Mutation_p.R112G|HNRNPM_uc010dwd.3_Missense_Mutation_p.R112G|HNRNPM_uc002mka.3_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	112	RRM 1.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AGGAAAGTCAAGGGTAAGTGT	0.428000														35			45		0	0	1	0	0
PRND	23627	broad.mit.edu	37	20	4705644	4705644	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:4705644G>A	uc021waf.1	+	0	447	c.447G>A	c.(445-447)ttG>ttA	p.L149L	PRND_uc002wkz.3_Silent_p.L149L	NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	Homo sapiens prion protein 2 (dublet) (PRND), mRNA.	149	Globular.		L -> S.		protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						AGTTTTGGTTGGAGAGGGGCG	0.597000														22			23		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34647767	34647767	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:34647767G>A	uc010ucc.2	+	7	1940	c.1558G>A	c.(1558-1560)Gac>Aac	p.D520N	C15orf55_uc010ucd.2_Missense_Mutation_p.D510N|C15orf55_uc001zif.3_Missense_Mutation_p.D492N	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	492						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CGCTCAGTTGGACTCAAGTCC	0.567000			T	"""BRD3, BRD4"""	lethal midline carcinoma									56			50		0	0	1	0	0
SLC10A4	201780	broad.mit.edu	37	4	48490878	48490878	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:48490878G>A	uc003gyc.2	+	2	1455	c.1236G>A	c.(1234-1236)gaG>gaA	p.E412E	ZAR1_uc003gyd.3_5'Flank	NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 4 (SLC10A4), mRNA.	412						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						TAAAAGAAGAGGAAATGGCAG	0.348000														22			9		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14834368	14834368	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:14834368C>T	uc001rcd.3	-	4	792	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	GUCY2C_uc009zhz.2_Missense_Mutation_p.E219K	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	219					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	p.E219K(2)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AAGCCGAGTTCGTGGGAGAAA	0.413000														53			10		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793102	65793102	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:65793102T>A	uc001ogt.3	-	0	887	c.749A>T	c.(748-750)cAt>cTt	p.H250L		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	250	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CACAGAGGAATGAGGGGAAAT	0.572000														25			14		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668303	176668303	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:176668303C>A	uc001gkz.3	+	7	3978	c.2814C>A	c.(2812-2814)taC>taA	p.Y938*	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	938					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCCACCTGTACCACATGAACA	0.587000														81			71		2.40041e-21	2.42946e-21	1	1	0
DIDO1	11083	broad.mit.edu	37	20	61542779	61542780	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:61542779_61542780CC>TT	uc002ydr.2	-	2	497_498	c.185_186GG>AA	c.(184-186)cgg>cAA	p.R62Q	DIDO1_uc002yds.2_Missense_Mutation_p.R62Q|DIDO1_uc002ydt.2_Missense_Mutation_p.R62Q|DIDO1_uc002ydu.2_Missense_Mutation_p.R62Q|DIDO1_uc002ydv.2_Missense_Mutation_p.R62Q|DIDO1_uc002ydw.2_Missense_Mutation_p.R62Q|DIDO1_uc002ydx.2_Missense_Mutation_p.R62Q|DIDO1_uc011aao.1_Missense_Mutation_p.R62Q	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	62					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCCCACTGCGCCGCAGGGACAG	0.688000														26			5		0	0	1	0	0
AQP2	359	broad.mit.edu	37	12	50344628	50344628	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:50344628C>T	uc001rvn.3	+	0	105	c.15C>T	c.(13-15)cgC>cgT	p.R5R		NM_000486	NP_000477	P41181	AQP2_HUMAN	Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA.	5					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GGGAGCTCCGCTCCATAGCCT	0.637000														42			35		0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16306643	16306643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:16306643G>A	uc003nbt.3	-	8	3336	c.2365C>T	c.(2365-2367)Cca>Tca	p.P789S	ATXN1_uc010jpi.3_Missense_Mutation_p.P789S|ATXN1_uc010jpj.1_Non-coding_Transcript	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	789	Interaction with USP7.				RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GTCAAAGGTGGTTCGTCTTCT	0.537000														87			19		0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3030189	3030189	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:3030189C>T	uc002fvc.1	-	0	657	c.657G>A	c.(655-657)acG>acA	p.T219T		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						AGAAAACGTTCGTGTAAGAGA	0.512000														67			17		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54903523	54903523	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:54903523G>A	uc001sgc.4	+	5	656	c.577G>A	c.(577-579)Gag>Aag	p.E193K	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.E143K	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	193					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GCTGACAGAAGAGTTTGGGCC	0.478000														99			86		0	0	1	0	0
RPL23P8	222901	broad.mit.edu	37	7	20867088	20867088	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:20867088G>A	uc011jyj.1	+	0		c.172G>A								Homo sapiens ribosomal protein L23 pseudogene 8 (RPL23P8), non-coding RNA.																		TCAAGGGACGGCTGAACAGAC	0.512000														70			11		0	0	1	0	0
C11orf2	738	broad.mit.edu	37	11	64863934	64863934	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:64863934A>G	uc001ocr.1	+	0	252	c.212A>G	c.(211-213)gAa>gGa	p.E71G		NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	71					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						TTCGACCCGGAAGTTTACCTA	0.672000														11			5		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169828506	169828506	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:169828506G>A	uc002ueo.1	-	13	1615	c.1489C>T	c.(1489-1491)Cag>Tag	p.Q497*	ABCB11_uc010zda.1_5'UTR|ABCB11_uc010zdb.1_5'UTR	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	497	ABC transporter 1.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ATCCCAATCTGATCTCTAAGC	0.458000														28			6		0	0	1	0	0
FUT8	2530	broad.mit.edu	37	14	66200043	66200043	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:66200043C>T	uc001xin.3	+	9	3081	c.1354C>T	c.(1354-1356)Ctg>Ttg	p.L452L	FUT8_uc001xio.3_Silent_p.L452L|FUT8_uc010tsp.2_Silent_p.L289L|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Silent_p.L452L|FUT8_uc001xiq.3_Silent_p.L323L|FUT8_uc021ruy.1_Silent_p.L323L	NM_178155	NP_004471	Q9BYC5	FUT8_HUMAN	Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA.	452					L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi	Golgi cisterna membrane|integral to membrane	SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TGGAGTGATCCTGGATATACA	0.383000														92			20		0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343979	248343979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248343979G>A	uc010pzf.2	+	0	692	c.692G>A	c.(691-693)gGa>gAa	p.G231E		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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;0.0245)			ATGGGATCTGGAGAGGGTCGT	0.453000														40			92		0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790629	4790629	+	Missense_Mutation	SNP	C	T	T	rs149687850		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:4790629C>T	uc010qyl.2	-	0	519	c.519G>A	c.(517-519)atG>atA	p.M173I		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	173						integral to membrane	olfactory receptor activity	p.M173I(2)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAAGGGCATTCATTCTACAGA	0.383000														45			16		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114279695	114279695	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:114279695G>A	uc003ibe.4	+	37	10021	c.9921G>A	c.(9919-9921)agG>agA	p.R3307R	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Silent_p.R3322R	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3274					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTCCTGTAAGGACTATGCCCA	0.443000														100			23		0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178139785	178139785	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:178139785G>A	uc003mjj.3	-	4	1292	c.1094C>T	c.(1093-1095)tCt>tTt	p.S365F		NM_005649	NP_005640	O60765	Z354A_HUMAN	Homo sapiens zinc finger protein 354A (ZNF354A), mRNA.	365					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		GGATGAGCTAGACTTAAAGGT	0.418000														18			33		0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982185	61982185	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:61982185T>C	uc002yes.2	-	4	756	c.578A>G	c.(577-579)aAc>aGc	p.N193S	CHRNA4_uc002yet.1_Missense_Mutation_p.N17S|CHRNA4_uc010gke.1_Missense_Mutation_p.N122S|CHRNA4_uc002yev.1_Missense_Mutation_p.N17S|CHRNA4_uc010gkf.1_Missense_Mutation_p.N17S	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	193					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GCTGTGCATGTTCACCAGGTC	0.582000														78			16		0	0	1	0	0
UFL1	23376	broad.mit.edu	37	6	96999369	96999369	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:96999369C>T	uc003por.3	+	15	1927	c.1879C>T	c.(1879-1881)Cat>Tat	p.H627Y	UFL1_uc010kck.3_Non-coding_Transcript	NM_015323	NP_056138	O94874	UFL1_HUMAN	Homo sapiens UFM1-specific ligase 1 (UFL1), mRNA.	627					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	UFM1 conjugating enzyme activity|protein binding										TACAAAACTCCATAACTCTCT	0.299000														32			12		0	0	1	0	0
TNFSF10	8743	broad.mit.edu	37	3	172224669	172224669	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:172224669G>A	uc003fid.3	-	4	582	c.459C>T	c.(457-459)tcC>tcT	p.S153S	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_3'UTR	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	153					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ATGATTCCCAGGAGTTTATTT	0.433000														22			7		0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39171503	39171503	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:39171503C>T	uc004abi.3	-	7	1435	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	CNTNAP3_uc004abj.3_Missense_Mutation_p.R399Q|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.R399Q|CNTNAP3_uc011lqs.1_Missense_Mutation_p.R399Q	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	399	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTTCCACGTTCGAAATTGAAA	0.502000														18			11		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96541593	96541593	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:96541593C>T	uc010qnz.2	+	4	658	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	CYP2C19_uc009xus.1_Missense_Mutation_p.P85S|CYP2C19_uc010qny.2_Missense_Mutation_p.P198S	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	220					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)	CAATAATTTTCCCACTATCAT	0.274000														24			5		0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832744	113832744	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:113832744G>A	uc002tiu.3	+	4	337	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	IL1F10_uc002tiv.3_Missense_Mutation_p.E88K|IL1F10_uc002tiw.3_Missense_Mutation_p.E80K	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA.	88						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						GAACATTGAGGAACTGTACAA	0.577000														82			113		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924775	188924775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:188924775G>A	uc003izh.1	+	3	1222	c.814G>A	c.(814-816)Gag>Aag	p.E272K	ZFP42_uc003izi.1_Missense_Mutation_p.E272K|ZFP42_uc021xvm.1_Missense_Mutation_p.E272K	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	272					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)		CCACACGGGGGAGAAACGTTT	0.488000														47			16		0	0	1	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227472	56227472	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:56227472G>A	uc002xyq.3	-	3	894	c.501C>T	c.(499-501)ctC>ctT	p.L167L	PMEPA1_uc002xyr.3_Silent_p.L117L|PMEPA1_uc002xys.3_Silent_p.L132L|PMEPA1_uc002xyt.3_Silent_p.L117L	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	167					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	p.L167L(2)|p.T166I(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CCCGAAGCTGGAGGGTGCAGG	0.642000														99			16		0	0	1	0	0
RG9MTD1	54931	broad.mit.edu	37	3	101284528	101284528	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:101284528C>T	uc003duz.3	+	1	1051	c.903C>T	c.(901-903)ttC>ttT	p.F301F	RG9MTD1_uc021xbw.1_Silent_p.F301F	NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 1 (RG9MTD1), nuclear gene encoding mitochondrial protein, mRNA.	301					tRNA processing	mitochondrion	methyltransferase activity|protein binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	16						TGACTACTTTCAGGCATGACA	0.378000														35			11		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179497525	179497525	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:179497525C>T	uc001gmo.3	+	22	3061	c.2674C>T	c.(2674-2676)Cat>Tat	p.H892Y	AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.H776Y|AXDND1_uc009wxh.3_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	892	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TGAAAATGTTCATTCCAAACC	0.378000														41			10		0	0	1	0	0
ENTPD6	955	broad.mit.edu	37	20	25188027	25188027	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:25188027C>T	uc002wuj.2	+	2	550	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S	ENTPD6_uc010zsy.1_Missense_Mutation_p.P124S|ENTPD6_uc010gdj.1_Missense_Mutation_p.P96S|ENTPD6_uc002wum.2_Missense_Mutation_p.P107S|ENTPD6_uc010zta.1_Missense_Mutation_p.P124S|ENTPD6_uc002wuk.2_Missense_Mutation_p.P123S|ENTPD6_uc002wul.2_Missense_Mutation_p.P123S|ENTPD6_uc010ztb.1_Missense_Mutation_p.P96S|ENTPD6_uc010ztc.1_Missense_Mutation_p.P96S|ENTPD6_uc002wuo.2_Intron|ENTPD6_uc010zsz.1_Intron|ENTPD6_uc010ztd.1_5'Flank	NM_001247	NP_001238	O75354	ENTP6_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA.	124						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CACCCGGCCCCCCAGAGGTAC	0.632000														24			9		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20570759	20570759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:20570759C>T	uc002dhj.4	-	3	398	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	ACSM2B_uc002dhk.4_Missense_Mutation_p.R63Q|ACSM2B_uc010bwf.1_Missense_Mutation_p.R63Q	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	63					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GCTTGGGAGTCGCTTGCCAGC	0.512000														10			7		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38885467	38885467	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:38885467C>T	uc003jln.2	+	5	1122	c.720C>T	c.(718-720)ccC>ccT	p.P240P	OSMR_uc003jlm.2_Silent_p.P240P	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	240					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	p.E239K(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TTGAGGAGCCCAAGGACTTTT	0.438000														20			41		0	0	1	0	0
FABP1	2168	broad.mit.edu	37	2	88425751	88425751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:88425751C>T	uc002sst.2	-	1	298	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K		NM_001443	NP_001434	P07148	FABPL_HUMAN	Homo sapiens fatty acid binding protein 1, liver (FABP1), mRNA.	62					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						ACCGTGAATTCGTTTTGGATC	0.517000														132			53		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31595132	31595132	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:31595132G>A	uc002rnv.1	-	16	1897	c.1818C>T	c.(1816-1818)ctC>ctT	p.L606L		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	606					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGACCAGCCGGAGAGACAGCT	0.652000														286			45		0	0	1	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967434	142967434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:142967434C>T	uc004fca.3	+	0	262	c.232C>T	c.(232-234)Cat>Tat	p.H78Y		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	78							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CAAAATTTATCATCCAAATGT	0.428000														4			58		0	0	1	0	0
MLPH	79083	broad.mit.edu	37	2	238449159	238449159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:238449159C>T	uc002vwt.3	+	9	1500	c.1273C>T	c.(1273-1275)Ccc>Tcc	p.P425S	MLPH_uc002vws.3_Missense_Mutation_p.P282S|MLPH_uc010fyt.1_Missense_Mutation_p.P397S|MLPH_uc002vwu.3_Missense_Mutation_p.P397S|MLPH_uc002vwv.3_Missense_Mutation_p.P357S|MLPH_uc002vww.3_Missense_Mutation_p.P373S|MLPH_uc002vwx.3_Missense_Mutation_p.P281S	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN	Homo sapiens melanophilin (MLPH), transcript variant 1, mRNA.	425							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		TGGGCCTCTCCCCCAGGCGGA	0.632000														9			3		0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151773804	151773804	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:151773804C>T	uc001ezf.1	-	1	1567	c.1377G>A	c.(1375-1377)ggG>ggA	p.G459G	LINGO4_uc021oyu.1_Silent_p.G459G	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	459	Ig-like C2-type.					integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCCTTACTCTCCCAGCCCTGC	0.612000														185			35		0	0	1	0	0
STRADB	55437	broad.mit.edu	37	2	202343136	202343136	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:202343136C>T	uc002uyd.4	+	9	1247	c.882C>T	c.(880-882)ttC>ttT	p.F294F	STRADB_uc021vvb.1_Silent_p.F294F	NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN	Homo sapiens STE20-related kinase adaptor beta (STRADB), transcript variant 1, mRNA.	294	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						TCAGTATTTTCCCTCAATCAG	0.398000														32			16		0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190498	58190498	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:58190498G>A	uc010rkg.2	-	0	289	c.237C>T	c.(235-237)gtC>gtT	p.V79V		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K78N(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACCCAGCCATGACCTTGGGAG	0.483000														116			17		0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109394869	109394869	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:109394869C>T	uc001dwa.3	-	1	687	c.418G>A	c.(418-420)Gac>Aac	p.D140N	AKNAD1_uc010ovb.2_Intron|AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	140										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCAAAACTGTCGGCATTTGAG	0.363000														15			9		0	0	1	0	0
CBLL1	79872	broad.mit.edu	37	7	107399489	107399489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:107399489G>A	uc003veq.3	+	5	1672	c.1342G>A	c.(1342-1344)Gga>Aga	p.G448R	CBLL1_uc011kme.2_Missense_Mutation_p.G327R|CBLL1_uc011kmf.2_Missense_Mutation_p.G447R	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA.	448	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.G447W(1)		endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						ACAACCAGGGGGAATGAGTCC	0.532000														47			36		0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479941	4479941	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:4479941G>A	uc001qmq.1	-	2	470	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.	108					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	p.F108F(2)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TCTCCGGGTCGAAATAGTGCT	0.617000														73			24		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1093938	1093939	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:1093938_1093939GG>AA	uc002qwq.3	+	3	396	c.267_splice	c.e3+1	p.K89_splice	SNTG2_uc002qwp.3_Splice_Site|SNTG2_uc010ewi.3_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	89	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGAGTATAAAGGTATGGAAATG	0.391000														221			33		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137630654	137630654	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:137630654G>A	uc004cfe.3	+	11	1876	c.1494_splice	c.e11+1	p.R498_splice		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	498	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTGGAGAAAGGGTAAGAGGTT	0.562000														2			45		0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56350853	56350853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:56350853G>A	uc002ivu.1	-	8	1720	c.1543C>T	c.(1543-1545)Cgg>Tgg	p.R515W		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	515					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	p.R515R(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GGCTGGTACCGATTGTCCAGG	0.592000														112			76		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174665	51174665	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:51174665C>T	uc021tif.1	-	1	1499	c.1177G>A	c.(1177-1179)Ggg>Agg	p.G393R	SALL1_uc021tid.1_Missense_Mutation_p.G393R|SALL1_uc021tie.1_Missense_Mutation_p.G490R|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	490					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTCAGATTCCCCTTGGTGGAG	0.517000														29			22		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168093498	168093498	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:168093498C>T	uc010jjg.3	-	35	4974	c.4554G>A	c.(4552-4554)gtG>gtA	p.V1518V	SLIT3_uc003mab.3_Silent_p.V1511V	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1511	CTCK.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTGTCTCTCCACCTCTTCTA	0.642000														22			8		0	0	1	0	0
NR2E1	7101	broad.mit.edu	37	6	108497822	108497823	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:108497822_108497823CC>TT	uc003psg.3	+	3	1130_1131	c.375_376CC>TT	c.(373-378)ctccct>ctTTct	p.P126S		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 1 (NR2E1), mRNA.	126					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CGGCGGCGCTCCCTGCGCCGGC	0.708000														12			5		0	0	1	0	0
RANBP3L	202151	broad.mit.edu	37	5	36257607	36257607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:36257607C>T	uc011cow.2	-	9	1289	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	RANBP3L_uc003jkh.3_Missense_Mutation_p.E241K	NM_001161429	NP_001154901	Q86VV4	RNB3L_HUMAN	Homo sapiens RAN binding protein 3-like (RANBP3L), transcript variant 1, mRNA.	241					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			AATGGTTTTTCCTTGGCATAT	0.313000														9			31		0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41812901	41812901	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:41812901G>A	uc010lxb.3	-	9	2055	c.1511C>T	c.(1510-1512)cCa>cTa	p.P504L	KAT6A_uc010lxc.3_Missense_Mutation_p.P504L|KAT6A_uc003xon.4_Missense_Mutation_p.P504L|KAT6A_uc010lxd.3_Missense_Mutation_p.P504L	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	504	Catalytic.|Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	p.P504L(1)									GCGGACTTGTGGATCAGGGGG	0.413000														62			6		0	0	1	0	0
ADSSL1	122622	broad.mit.edu	37	14	105207039	105207039	+	Missense_Mutation	SNP	C	T	T	rs144784529		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:105207039C>T	uc001ypd.3	+	5	652	c.578C>T	c.(577-579)tCc>tTc	p.S193F	ADSSL1_uc001ype.3_Missense_Mutation_p.S236F|ADSSL1_uc001ypf.3_Non-coding_Transcript	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 2, mRNA.	193					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GATGAGTTTTCCTCCAGGTAC	0.597000														47			38		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37581099	37581099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:37581099C>T	uc002yvg.3	+	4	657	c.578C>T	c.(577-579)cCg>cTg	p.P193L	DOPEY2_uc011aeb.2_Missense_Mutation_p.P193L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	193					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTGGCCAGCCCGTCCATCCGC	0.612000														48			16		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140207946	140207946	+	Silent	SNP	C	T	T	rs140846988	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140207946C>T	uc003lho.2	+	0	297	c.270C>T	c.(268-270)atC>atT	p.I90I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Silent_p.I90I|PCDHAC2_uc011dab.2_Silent_p.I90I	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	105	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGCGAGG	0.602000														87			147		0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042389	75042389	+	Missense_Mutation	SNP	G	A	A	rs34067076	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:75042389G>A	uc002ayr.1	+	1	374	c.310G>A	c.(310-312)Gat>Aat	p.D104N		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	104			D -> N (in dbSNP:rs34067076).		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	p.D104N(2)		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)	GCAGGGCGACGATTTCAAGGG	0.672000														40			20		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10212947	10212947	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10212947C>T	uc002gmk.1	-	33	4947	c.4857G>A	c.(4855-4857)aaG>aaA	p.K1619K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1619					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCATCTTCTTCTTTAGCCTCA	0.582000														13			4		0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4042326	4042326	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:4042326G>A	uc002cvx.3	-	4	2567	c.2028C>T	c.(2026-2028)ctC>ctT	p.L676L		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	676					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAGGGCTGAGGAGCCCGTTCT	0.587000														38			13		0	0	1	0	0
C17orf103	256302	broad.mit.edu	37	17	21146704	21146704	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:21146704G>A	uc010vzx.2	-	3	263	c.261C>T	c.(259-261)gcC>gcT	p.A87A		NM_152914	NP_690878	Q8N6N6	GTL3B_HUMAN	Homo sapiens chromosome 17 open reading frame 103 (C17orf103), mRNA.	88										endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						AGGTGAGATGGGCCTTCAGGT	0.657000														39			7		0	0	1	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310520	57310520	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:57310520G>A	uc021qjh.1	+	0	407	c.405G>A	c.(403-405)gaG>gaA	p.E135E		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	135								p.E135*(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						TGGCCTCTGAGAAGCAGAAGG	0.522000														11			4		0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144671980	144671980	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:144671980G>A	uc003yyq.2	-	0	651	c.422C>T	c.(421-423)tCc>tTc	p.S141F	EEF1D_uc003yyp.2_Missense_Mutation_p.S91F|EEF1D_uc011lki.2_Intron|EEF1D_uc003yyv.3_Intron|EEF1D_uc003yyu.3_Intron|EEF1D_uc011lkk.2_Intron|EEF1D_uc003yyt.3_Missense_Mutation_p.S91F|EEF1D_uc003yyr.3_Missense_Mutation_p.S91F|EEF1D_uc003yys.3_Intron|EEF1D_uc011lkl.2_Intron	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	0					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCTCTTGGGGGAGCGCTTCCT	0.672000														5			15		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43243098	43243098	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:43243098C>T	uc002oue.3	-	1	340	c.208G>A	c.(208-210)Ggg>Agg	p.G70R	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	70	Ig-like V-type.				defense response|female pregnancy	extracellular region		p.G70E(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TTCATTTGCCCTTTGTACCAG	0.433000														211			60		0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196920078	196920078	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:196920078G>A	uc001gtq.1	+	2	427	c.350G>A	c.(349-351)gGa>gAa	p.G117E	CFHR2_uc001gtr.1_Intron	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	117	Sushi 2.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						TGCAACACAGGATACAGACTT	0.408000														100			17		0	0	1	0	0
LOC344967	344967	broad.mit.edu	37	4	40045341	40045341	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:40045341C>T	uc011byr.1	-	2	809	c.315G>A	c.(313-315)cgG>cgA	p.R105R						Homo sapiens acyl-CoA thioesterase 7 pseudogene (LOC344967), non-coding RNA.																		CCTGCTCCTGCCGGAAATACA	0.587000														0			12		0	0	1	0	0
FAM107B	83641	broad.mit.edu	37	10	14709678	14709678	+	Nonsense_Mutation	SNP	G	A	A	rs111681891		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:14709678G>A	uc001ina.1	-	1	658	c.424C>T	c.(424-426)Cga>Tga	p.R142*	FAM107B_uc010qbu.1_Non-coding_Transcript	NM_031453	NP_113641	Q9H098	F107B_HUMAN	Homo sapiens family with sequence similarity 107, member B (FAM107B), mRNA.	74										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGTTCTTCTCGAAATTCTTCT	0.423000														47			15		0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	144920579	144920579	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:144920579G>A	uc003ijm.1	-	2	216	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C	GYPA_uc003ijn.2_Intron|GYPA_uc010ioo.1_Non-coding_Transcript|GYPA_uc010iop.2_Non-coding_Transcript|GYPA_uc011chv.1_Non-coding_Transcript|GYPA_uc011chw.1_Non-coding_Transcript|GYPA_uc011chx.1_Intron|GYPA_uc011chy.1_Non-coding_Transcript|GYPA_uc011chs.1_Non-coding_Transcript|GYPA_uc011cht.1_Non-coding_Transcript|GYPA_uc011chu.1_Non-coding_Transcript|GYPA_uc011chz.2_Non-coding_Transcript	NM_002100	NP_002091	P02724	GLPA_HUMAN	Homo sapiens glycophorin B (MNS blood group) (GYPB), mRNA.	86					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					ACAGTGAAACGATGGACAAGT	0.313000														10			12		0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134214297	134214297	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:134214297C>T	uc001qhp.3	+	2	489	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	GLB1L2_uc009zdg.1_5'Flank	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	101					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TCCGTGGAACCTGCATGAGCC	0.468000														100			9		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61513160	61513160	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:61513160C>T	uc002ydr.2	-	15	4460	c.4148G>A	c.(4147-4149)aGg>aAg	p.R1383K	DIDO1_uc002yds.2_Missense_Mutation_p.R1383K	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1383					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTCGTATGGCCTGTCGTCCTC	0.607000														151			37		0	0	1	0	0
ZFP90	146198	broad.mit.edu	37	16	68598512	68598512	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:68598512C>T	uc010cff.3	+	4	2114	c.1822C>T	c.(1822-1824)Ccc>Tcc	p.P608S	ZFP90_uc002ewb.3_3'UTR|ZFP90_uc002ewc.3_3'UTR|ZFP90_uc002ewd.3_Missense_Mutation_p.P608S|ZFP90_uc002ewe.3_Missense_Mutation_p.P608S	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA.	608					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K607N(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		TGGAGAAAAACCCTATTCTTG	0.398000														55			27		0	0	1	0	0
LDLRAD1	388633	broad.mit.edu	37	1	54477832	54477832	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:54477832C>T	uc001cwm.1	-	3	342	c.324G>A	c.(322-324)gaG>gaA	p.E108E	LDLRAD1_uc010onz.1_Missense_Mutation_p.R55K|LDLRAD1_uc010ooa.1_Silent_p.E65E|LDLRAD1_uc009vzn.1_Non-coding_Transcript	NM_001010978	NP_001010978	Q5T700	LRAD1_HUMAN	Homo sapiens low density lipoprotein receptor class A domain containing 1 (LDLRAD1), mRNA.	108	LDL-receptor class A 1.					integral to membrane	receptor activity			large_intestine(3)|prostate(1)|skin(3)	7						AGCTCTCATCCTCGTCCTCGC	0.602000														13			17		0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117248299	117248299	+	Silent	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:117248299C>A	uc003pxm.3	+	16	2058	c.1995C>A	c.(1993-1995)ccC>ccA	p.P665P		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	665					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CAGGGAGGCCCCCAAGTGTGG	0.522000														41			28		1.75199e-13	1.76684e-13	1	1	0
PIAS2	9063	broad.mit.edu	37	18	44470763	44470763	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:44470763T>C	uc002lck.3	-	1	466	c.279A>G	c.(277-279)gaA>gaG	p.E93E	PIAS2_uc010dnp.3_5'UTR|PIAS2_uc010xda.2_Intron|PIAS2_uc002lcl.3_Silent_p.E93E|PIAS2_uc002lcm.3_Silent_p.E93E|PIAS2_uc002lcn.1_Silent_p.E97E	NM_004671	NP_004662	O75928	PIAS2_HUMAN	Homo sapiens protein inhibitor of activated STAT, 2 (PIAS2), transcript variant beta, mRNA.	93					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|protein binding|transcription coactivator activity|zinc ion binding	p.E93K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						CCAAGTCAGGTTCTACAGGTG	0.468000														11			8		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75036823	75036823	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:75036823G>A	uc001dgg.3	-	13	4790	c.4571C>T	c.(4570-4572)tCc>tTc	p.S1524F		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1524										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTTGTTGGGGGAAACATCTGC	0.512000														70			92		0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71472212	71472213	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:71472212_71472213GG>AA	uc003hfl.3	+	12	1210_1211	c.1109_1110GG>AA	c.(1108-1110)ggg>gAA	p.G370E		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	370					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			AGCCCTTCAGGGAAGATGAAGG	0.559000														77			11		0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77817707	77817707	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:77817707C>T	uc003hki.3	-	0	1296	c.1296G>A	c.(1294-1296)agG>agA	p.R432R		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.	432																	TGAGCTTCCCCCTATCTGGGG	0.617000														60			77		0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33235333	33235333	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:33235333C>T	uc001bvu.1	+	4	690	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	KIAA1522_uc010ohm.1_Missense_Mutation_p.R168W|KIAA1522_uc001bvv.2_Missense_Mutation_p.R157W|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	157										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GCGGCGTCGGCGGGAGCGGCG	0.627000														13			6		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164767591	164767591	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:164767591G>A	uc003fei.3	-	13	1648	c.1585C>T	c.(1585-1587)Ccg>Tcg	p.P529S		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	529	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.P528L(1)|p.P529P(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GGAGTAAACGGTGGATAATTC	0.274000										HNSCC(35;0.089)				41			10		0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51363376	51363376	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51363376A>G	uc021uyi.1	+	4	820	c.779A>G	c.(778-780)aAc>aGc	p.N260S	KLK3_uc002pts.1_3'UTR|KLK3_uc002ptr.1_Missense_Mutation_p.N217S|KLK3_uc010eof.1_Non-coding_Transcript	NM_001648	NP_001639	P07288	KLK3_HUMAN	Homo sapiens kallikrein-related peptidase 3 (KLK3), transcript variant 1, mRNA.	260					negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		ATCGTGGCCAACCCCTGAGCA	0.547000														78			27		0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614805	247614805	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:247614805G>A	uc010pyx.2	-	0	480	c.480C>T	c.(478-480)tcC>tcT	p.S160S		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-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)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCTGCACGAAGGAGTTGCCGA	0.602000														41			11		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33157238	33157238	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:33157238G>A	uc003ocx.1	-	1	319	c.91C>T	c.(91-93)Cct>Tct	p.P31S	COL11A2_uc003ocy.1_Missense_Mutation_p.P31S|COL11A2_uc003ocz.1_Missense_Mutation_p.P31S|COL11A2_uc003oda.3_Missense_Mutation_p.P31S	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	31	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACATCCACAGGGGGTGCACCT	0.587000														50			20		0	0	1	0	0
NUP35	129401	broad.mit.edu	37	2	183995214	183995214	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:183995214A>G	uc002upf.3	+	2	383	c.280A>G	c.(280-282)Ata>Gta	p.I94V	NUP35_uc010zfs.2_Missense_Mutation_p.I76V|NUP35_uc010zft.2_5'UTR|NUP35_uc002upg.3_Non-coding_Transcript	NM_138285	NP_612142	Q8NFH5	NUP53_HUMAN	Homo sapiens nucleoporin 35kDa (NUP35), mRNA.	94					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						AGTTAGAAGTATATATGATGA	0.378000														59			24		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24350738	24350738	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:24350738G>A	uc003xeb.3	+	15	1951	c.1838G>A	c.(1837-1839)gGa>gAa	p.G613E	ADAM7_uc003xec.3_Missense_Mutation_p.G385E	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	613	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGTGGAGAGGGAATGGTAAGA	0.363000														21			8		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768530	117768530	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:117768530C>T	uc001twn.2	-	1	1056	c.345G>A	c.(343-345)ggG>ggA	p.G115G	NOS1_uc001twm.2_Silent_p.G115G	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	115	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCTTGGGGGTCCCATCACCTG	0.627000														47			16		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41038977	41038977	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:41038977C>T	uc003jmj.4	-	20	2565	c.2075G>A	c.(2074-2076)gGg>gAg	p.G692E	HEATR7B2_uc003jmi.4_Missense_Mutation_p.G247E	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	692							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GCTCTTTTTCCCAGAAAAAAG	0.438000														16			26		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85961590	85961590	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:85961590C>T	uc003dql.3	+	4	576	c.576C>T	c.(574-576)ttC>ttT	p.F192F	CADM2_uc003dqj.3_Silent_p.F190F|CADM2_uc003dqk.3_Silent_p.F199F|CADM2_uc003dqm.2_Silent_p.F82F|CADM2_uc021xay.1_Silent_p.F82F|CADM2_uc021xaz.1_Silent_p.F82F|CADM2_uc021xba.1_Silent_p.F82F	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	190	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CACTGGACTTCCGAGTGGACC	0.433000														11			18		0	0	1	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767737	143767737	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:143767737C>A	uc001ejt.3	-	0	145	c.112G>T	c.(112-114)Gct>Tct	p.A38S		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	38	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						GTGCTCAGAGCACGAAAGTTT	0.468000														241			71		4.18771e-30	4.24641e-30	1	1	0
RNASE3	6037	broad.mit.edu	37	14	21360231	21360231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:21360231C>T	uc021roq.1	+	0	386	c.386C>T	c.(385-387)cCa>cTa	p.P129L	RNASE3_uc001vyj.3_Missense_Mutation_p.P129L	NM_002935	NP_002926	P12724	ECP_HUMAN	Homo sapiens ribonuclease, RNase A family, 3 (RNASE3), mRNA.	129					RNA catabolic process|defense response to bacterium	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	GCAGACAGACCAGGAAGGAGG	0.473000														60			17		0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15893519	15893519	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:15893519G>A	uc002yju.1	-	1	163	c.81C>T	c.(79-81)ttC>ttT	p.F27F	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Silent_p.F95F	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	27					negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GAAAACGATCGAAATTCCCAA	0.289000														17			4		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43546829	43546829	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:43546829G>A	uc003tid.1	+	21	4330	c.3725G>A	c.(3724-3726)gGa>gAa	p.G1242E	HECW1_uc011kbi.1_Missense_Mutation_p.G1208E	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1242					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GAAGCCAAAGGATTTGGTCAG	0.493000														147			21		0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57246866	57246866	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:57246866G>A	uc003pdx.3	+	6	680	c.593G>A	c.(592-594)aGg>aAg	p.R198K	PRIM2_uc003pdw.3_Missense_Mutation_p.R198K	NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	198					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTTCGAGGAAGGAAAGTCTAT	0.403000														36			7		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108117930	108117930	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:108117930G>A	uc003dxa.1	-	34	5038	c.4981C>T	c.(4981-4983)Caa>Taa	p.Q1661*		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1661						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACCTTGATTTGAATCTGAAGC	0.453000														28			11		0	0	1	0	0
PLIN1	5346	broad.mit.edu	37	15	90213292	90213292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:90213292C>T	uc010upx.1	-	4	627	c.517G>A	c.(517-519)Gct>Act	p.A173T	PLIN1_uc002boh.2_Missense_Mutation_p.A173T	NM_001145311	NP_002657	O60240	PLIN1_HUMAN	Homo sapiens perilipin 1 (PLIN1), transcript variant 2, mRNA.	173					triglyceride catabolic process	lipid particle	lipid binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						CCTCCAGAAGCCAGTCGGCCA	0.632000														22			10		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753570	13753570	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:13753570C>T	uc003jfd.2	-	62	10686	c.10644G>A	c.(10642-10644)aaG>aaA	p.K3548K	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3548					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)					CTTTCATTTCCTTCCGCCAGT	0.398000									Kartagener syndrome					108			34		0	0	1	0	0
POU2F2	5452	broad.mit.edu	37	19	42621504	42621504	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:42621504G>A	uc002osp.3	-	4	263	c.201C>T	c.(199-201)gaC>gaT	p.D67D	POU2F2_uc002osn.3_Silent_p.D67D|POU2F2_uc002osq.3_Silent_p.D67D|POU2F2_uc002osr.2_Silent_p.D67D	NM_001207025	NP_001193954	P09086	PO2F2_HUMAN	Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.	67					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				CGCCACTGGGGTCTTCAGCCT	0.642000														42			34		0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135388740	135388740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:135388740C>T	uc003lbf.4	+	7	1219	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F	TGFBI_uc003lbg.4_Missense_Mutation_p.S86F|TGFBI_uc003lbh.4_Missense_Mutation_p.S179F|TGFBI_uc011cyb.2_Missense_Mutation_p.S179F	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	353	FAS1 2.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCGATCATCTCCAATAAAGAC	0.602000														14			31		0	0	1	0	0
BCL3	602	broad.mit.edu	37	19	45260400	45260400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45260400C>T	uc010xxe.2	+	3	716	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C		NM_005178	NP_005169	P20749	BCL3_HUMAN	Homo sapiens B-cell CLL/lymphoma 3 (BCL3), mRNA.	216					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				GTGCGAGCACCGCAGCCCGAC	0.682000			T	IGH@	CLL									41			22		0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14752422	14752422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:14752422C>T	uc002mzi.4	-	9	1205	c.1057G>A	c.(1057-1059)Gat>Aat	p.D353N	EMR3_uc010dzp.3_Missense_Mutation_p.D301N|EMR3_uc010xnv.2_Missense_Mutation_p.D227N	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	353					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGCACGGGATCCTCCTCCTGG	0.562000														29			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179648797	179648797	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179648797C>T	uc021vsy.1	-	16	3000	c.2775_splice	c.e16+1	p.K925_splice	TTN_uc021vsz.1_Splice_Site_p.K879_splice|TTN_uc021vta.1_Splice_Site_p.K879_splice|TTN_uc021vtb.1_Splice_Site_p.K879_splice|TTN_uc002unb.2_Splice_Site_p.K925_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	925							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)			AGTGACCAACCTTGGCTTCGC	0.547000														37			21		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29855947	29855947	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:29855947G>A	uc001usl.4	+	3	2839	c.2781G>A	c.(2779-2781)gtG>gtA	p.V927V		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	917	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					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						CCTCCAGTGTGACAGCACCCC	0.582000														30			18		0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180372715	180372715	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:180372715C>T	uc010hxe.3	-	6	880	c.765G>A	c.(763-765)acG>acA	p.T255T	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	255					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		p.I255M(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTTTTTCTCTCGTTTCCTGCT	0.289000														9			5		0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215408272	215408272	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:215408272C>T	uc001hkq.3	+	6	1234	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F	KCNK2_uc001hko.3_Silent_p.F351F|KCNK2_uc009xdm.3_Non-coding_Transcript|KCNK2_uc001hkp.3_Non-coding_Transcript|KCNK2_uc001hkr.4_Silent_p.F340F	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	Homo sapiens potassium channel, subfamily K, member 2 (KCNK2), transcript variant 3, mRNA.	355	Required for basal channel activity (By similarity).						outward rectifier potassium channel activity	p.A355T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	ATGACAAGTTCCAGCGGGCCA	0.552000														46			99		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43699294	43699294	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:43699294G>A	uc002ovy.3	-	3	943	c.841C>T	c.(841-843)Cct>Tct	p.P281S	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.P188S	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	281	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGACTGACAGGGAGGCTCTGA	0.443000														285			64		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166892614	166892614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:166892614C>T	uc002udo.4	-	17	3600	c.3373G>A	c.(3373-3375)Gaa>Aaa	p.E1125K	SCN1A_uc010fpk.3_Missense_Mutation_p.E1097K|SCN1A_uc021vsb.1_Missense_Mutation_p.E1114K	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1125						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTTAAATTTTCAAAGTCAGAT	0.343000														71			25		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7618858	7618858	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:7618858G>A	uc021pmv.1	-	9	1642	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	ITIH5_uc021pmu.1_Silent_p.I298I|ITIH5_uc001ijr.2_Silent_p.I512I	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	512					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CCGCAATGATGATCTCCGAGC	0.567000														86			28		0	0	1	0	0
ABTB1	80325	broad.mit.edu	37	3	127396527	127396527	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:127396527C>T	uc003ejt.3	+	9	958	c.870C>T	c.(868-870)ttC>ttT	p.F290F	ABTB1_uc003ejr.3_Silent_p.F148F|ABTB1_uc003ejs.3_Silent_p.F265F|ABTB1_uc003eju.3_Silent_p.F148F|ABTB1_uc010hsm.3_Silent_p.F17F	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 1 (ABTB1), transcript variant 2, mRNA.	290	BTB 2.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						AGGCCTTTTTCTGTGGCCGCA	0.682000														6			3		0	0	1	0	0
FAM83D	81610	broad.mit.edu	37	20	37570699	37570699	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:37570699T>C	uc002xjg.3	+	1	712	c.671T>C	c.(670-672)cTg>cCg	p.L224P	FAM83D_uc002xjf.3_Missense_Mutation_p.L224P	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.	194					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TATATCCTTCTGGACCAGGCT	0.448000														45			31		0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9325100	9325100	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9325100G>A	uc002mla.2	-	0	448	c.414C>T	c.(412-414)ccC>ccT	p.P138P		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CACAGAGGCAGGGGTTCATGA	0.512000														44			16		0	0	1	0	0
LAIR1	3903	broad.mit.edu	37	19	54871680	54871680	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:54871680C>T	uc002qfk.1	-	4	675	c.365_splice	c.e4-1	p.E122_splice	LAIR1_uc002qfl.1_Intron|LAIR1_uc002qfm.1_Splice_Site_p.E121_splice|LAIR1_uc002qfn.1_Intron|LAIR1_uc010yex.2_Splice_Site_p.E115_splice|LAIR1_uc002qfo.3_Splice_Site_p.E104_splice	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	122						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CCAGAGGTTTCTGTAAACAGG	0.612000														70			12		0	0	1	0	0
FCGR2A	2212	broad.mit.edu	37	1	161476158	161476158	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:161476158C>T	uc001gan.3	+	2	194	c.141C>T	c.(139-141)ccC>ccT	p.P47P	FCGR2A_uc001gam.3_Silent_p.P46P|FCGR2A_uc021pcz.1_Non-coding_Transcript|FCGR2A_uc021pda.1_Non-coding_Transcript	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIa, receptor (CD32) (FCGR2A), transcript variant 1, mRNA.	47	Ig-like C2-type 1.					integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AACTTGAGCCCCCGTGGATCA	0.572000														46			63		0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135713	156135713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:156135713C>T	uc003ioq.3	+	1	1111	c.622C>T	c.(622-624)Cct>Tct	p.P208S	NPY2R_uc003ior.3_Missense_Mutation_p.P208S|NPY2R_uc021xtm.1_Missense_Mutation_p.P208S	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	208					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.P208L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TGAAAAGTGGCCTGGCGAGGA	0.488000														88			98		0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94849304	94849304	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:94849304C>T	uc001ycy.4	-	3	825	c.271G>A	c.(271-273)Ggg>Agg	p.G91R	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Missense_Mutation_p.G91R|SERPINA1_uc010auy.3_Missense_Mutation_p.G91R|SERPINA1_uc001ycz.4_Missense_Mutation_p.G91R|SERPINA1_uc010auz.3_Missense_Mutation_p.G91R|SERPINA1_uc010ava.3_Missense_Mutation_p.G91R|SERPINA1_uc001ydb.4_Missense_Mutation_p.G91R|SERPINA1_uc010avb.3_Missense_Mutation_p.G91R|SERPINA1_uc001ydc.4_Missense_Mutation_p.G91R|SERPINA1_uc010auw.3_Missense_Mutation_p.G91R|SERPINA1_uc010aux.3_Missense_Mutation_p.G91R|SERPINA1_uc001yda.1_Missense_Mutation_p.G91R	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	91			G -> E (in M-Mineral springs; causes reduced AAT secretion; dbSNP:rs28931568).		acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GCCTTGGTCCCCAGGGAGAGC	0.552000														71			33		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118583359	118583359	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:118583359C>T	uc001ehk.2	-	21	3228	c.3160G>A	c.(3160-3162)Gaa>Aaa	p.E1054K		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1054						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)		GTACCTTTTTCAAACATTGTC	0.403000														12			30		0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42477636	42477636	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:42477636G>A	uc002igw.2	-	7	2028	c.1809C>T	c.(1807-1809)ctC>ctT	p.L603L	GPATCH8_uc002igv.2_Silent_p.L525L|GPATCH8_uc010wiz.2_Silent_p.L525L	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	603						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTAGGCCTTGGAGATGGTCCT	0.443000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		67			18		0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784640	151784640	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:151784640C>T	uc003luv.2	-	0	201	c.35G>A	c.(34-36)tGg>tAg	p.W12*		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	12					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CTGGTAGATCCAGGAAGCATT	0.502000														93			26		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62586944	62586944	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:62586944C>T	uc001dab.3	+	37	5096	c.4982C>T	c.(4981-4983)tCa>tTa	p.S1661L	INADL_uc001dac.3_Non-coding_Transcript|INADL_uc009wag.3_Missense_Mutation_p.S445L	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1661					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AAAAGAGTTTCAGATCCTTCC	0.423000														27			25		0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45926268	45926268	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:45926268G>A	uc001nbr.3	+	9	2102	c.1777_splice	c.e9-1	p.I593_splice		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	593	PID.				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)		GTCACCTGTAGATTGCCACCA	0.607000														73			29		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101333182	101333182	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:101333182C>T	uc010svm.1	+	3	822	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Silent_p.L49L|ANO4_uc001thx.2_Silent_p.L84L	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	84						chloride channel complex	chloride channel activity	p.R83L(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CCCTGGAAACCTGACTAGTAC	0.433000										HNSCC(74;0.22)				5			39		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167035383	167035383	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:167035383G>T	uc011bpc.2	-	12	1323	c.986C>A	c.(985-987)aCt>aAt	p.T329N	ZBBX_uc003feq.3_Missense_Mutation_p.T300N|ZBBX_uc003fep.3_Missense_Mutation_p.T329N	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	329						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTCTTGTGGAGTTCTACAAAA	0.343000														33			20		1.33834e-09	1.34613e-09	1	1	0
TLN2	83660	broad.mit.edu	37	15	62986583	62986583	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:62986583C>T	uc002alb.4	+	10	1284	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	428					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGTCCGTTTCCCCAAAAAAGT	0.423000														39			17		0	0	1	0	0
CHDH	55349	broad.mit.edu	37	3	53853678	53853678	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:53853678C>T	uc003dgz.3	-	6	1585	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	Homo sapiens choline dehydrogenase (CHDH), nuclear gene encoding mitochondrial protein, mRNA.	382					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CCACCTGTTTCCAGATGGGCA	0.642000														22			4		0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136523445	136523445	+	Nonsense_Mutation	SNP	G	A	A	rs77724989		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:136523445G>A	uc004cel.3	+	11	1739	c.1730G>A	c.(1729-1731)tGg>tAg	p.W577*		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	577					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CAGGGTGAATGGAACCTGCAG	0.637000														43			17		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8604855	8604855	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:8604855G>A	uc002mkg.3	-	15	1806	c.1668C>T	c.(1666-1668)ccC>ccT	p.P556P		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	556	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.R555C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGGCGGTGCTGGGGCGCCCCT	0.637000														22			20		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940309	22940309	+	Missense_Mutation	SNP	G	A	A	rs71357942		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:22940309G>A	uc021urt.1	-	3	2557	c.2402C>T	c.(2401-2403)tCc>tTc	p.S801F		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGGGTTGAGGAATTGTTAAA	0.333000														21			6		0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209935900	209935900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:209935900C>T	uc001hho.3	+	3	806	c.386C>T	c.(385-387)cCt>cTt	p.P129L	TRAF3IP3_uc001hhm.2_Missense_Mutation_p.P129L|TRAF3IP3_uc001hhn.3_Missense_Mutation_p.P109L|TRAF3IP3_uc009xcr.3_Missense_Mutation_p.P129L	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	129						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GCCCAGCATCCTCCTCCCTCA	0.577000														32			49		0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69046310	69046310	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:69046310C>T	uc010fdg.3	+	8	1478	c.1059C>T	c.(1057-1059)ctC>ctT	p.L353L	ARHGAP25_uc010yql.2_Silent_p.L313L|ARHGAP25_uc002sev.3_Silent_p.L346L|ARHGAP25_uc002sew.3_Silent_p.L345L|ARHGAP25_uc002sex.3_Silent_p.L346L	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	352	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						ATGAAGTCCTCTTCCCCAAGT	0.507000														293			53		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681099	100681099	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:100681099C>T	uc003uxp.1	+	2	6455	c.6402C>T	c.(6400-6402)atC>atT	p.I2134I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2134	59 X approximate tandem repeats.|Ser-rich.					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)					GTCCTGTGATCACTTCTACTG	0.473000														209			131		0	0	1	0	0
GMCL1P1	64396	broad.mit.edu	37	5	177613459	177613459	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:177613459T>C	uc003mit.1	-	0	975	c.842A>G	c.(841-843)aAg>aGg	p.K281R						Homo sapiens germ cell-less homolog 1 (Drosophila) pseudogene 1 (GMCL1P1), non-coding RNA.																		GAACATCCACTTTTTTAGAGT	0.353000														38			113		0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149513468	149513468	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:149513468G>A	uc003lro.3	-	4	1204	c.735C>T	c.(733-735)ttC>ttT	p.F245F	PDGFRB_uc010jhd.3_Silent_p.F84F|PDGFRB_uc011dcg.1_Silent_p.F245F	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	245	Ig-like C2-type 3.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGTCCACTCGAAGTTGACCA	0.572000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									22			34		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287388	16287388	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:16287388C>T	uc010gqp.2	-	0	550	c.498G>A	c.(496-498)atG>atA	p.M166I	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_5'UTR|POTEH_uc002zlj.1_Missense_Mutation_p.M1I	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	166										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ACCTCGGCTCCATGAAAGCGC	0.592000														172			28		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123989949	123989949	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:123989949T>G	uc001lfv.3	+	15	8481	c.8121T>G	c.(8119-8121)gaT>gaG	p.D2707E	TACC2_uc001lfw.3_Missense_Mutation_p.D853E|TACC2_uc009xzx.3_Intron|TACC2_uc010qtv.2_Intron|TACC2_uc001lfx.3_Intron|TACC2_uc001lfy.3_Intron|TACC2_uc001lfz.3_Missense_Mutation_p.D785E|TACC2_uc001lga.3_Intron|TACC2_uc009xzy.3_Intron|TACC2_uc001lgb.3_Intron	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2707						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)				GCCACCAGGATGCCAAGGTAC	0.602000														45			24		0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328046	48328046	+	Missense_Mutation	SNP	C	T	T	rs146061383		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:48328046C>T	uc010rhu.2	+	0	272	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						AAGATCATCTCCTTCAATGGC	0.468000														61			17		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36222831	36222832	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:36222831_36222832CC>TT	uc021usv.1	+	26	5460_5461	c.5460_5461CC>TT	c.(5458-5463)ccccca>ccTTca	p.P1821S	MLL2_uc021usu.1_Missense_Mutation_p.P635S	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	439					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						GTGAGGACCCCCCACTGGACAC	0.624000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				20			16		0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52817048	52817048	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:52817048C>T	uc003dfs.3	+	8	1036	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Nonsense_Mutation_p.R194*|ITIH1_uc021wzg.1_Nonsense_Mutation_p.R48*|ITIH1_uc021wzh.1_Nonsense_Mutation_p.R48*|ITIH1_uc003dft.3_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	336	VWFA.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TTTTGGGACTCGAGTACAATC	0.532000														31			58		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335095	42335095	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:42335095C>T	uc002igf.4	-	11	1512	c.1363G>A	c.(1363-1365)Ggg>Agg	p.G455R	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	455	Membrane (anion exchange).		G -> E (in SPH4; Benesov).|G -> R (in SPH4; Yamagata).		bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGCTGAGCCCCCAGCAGGGCG	0.592000														53			11		0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2878184	2878184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:2878184C>T	uc002lwp.1	+	3	1315	c.1228C>T	c.(1228-1230)Ctt>Ttt	p.L410F	ZNF556_uc002lwq.3_Missense_Mutation_p.L409F	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		TTCAGGCGGGCTTTGCTCTTC	0.453000														72			24		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158505173	158505173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:158505173C>T	uc003qqx.2	+	21	3281	c.3175C>T	c.(3175-3177)Ctc>Ttc	p.L1059F	SYNJ2_uc003qqw.2_Missense_Mutation_p.L1059F|SYNJ2_uc003qqy.2_Missense_Mutation_p.L822F|SYNJ2_uc003qqz.2_Missense_Mutation_p.L676F|SYNJ2_uc003qra.2_Missense_Mutation_p.L402F	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1059							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GTCACCTGCTCTCACCAAAAA	0.547000														58			37		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49753680	49753680	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:49753680G>A	uc003ozu.3	-	0	1374	c.1221C>T	c.(1219-1221)atC>atT	p.I407I		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	407					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CTCCAGGAAGGATTTTACCTT	0.458000														58			61		0	0	1	0	0
RTN2	6253	broad.mit.edu	37	19	45997425	45997425	+	Splice_Site	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45997425T>A	uc002pcb.3	-	4	1044	c.814_splice	c.e4+1	p.G272_splice	RTN2_uc002pcc.3_Splice_Site_p.V272_splice|RTN2_uc002pcd.3_Non-coding_Transcript	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	272						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GTTGCTTACCTAGAAGGCGTG	0.507000														87			74		0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11976465	11976465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:11976465C>T	uc001mjs.3	+	25	4499	c.3736C>T	c.(3736-3738)Cct>Tct	p.P1246S	USP47_uc001mjr.3_Missense_Mutation_p.P1178S|USP47_uc009ygi.3_Missense_Mutation_p.P48S	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	Homo sapiens ubiquitin specific peptidase 47 (USP47), mRNA.	1266					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex|cytoplasm	WD40-repeat domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		CAGTGGGATTCCTTTGGATGA	0.313000														31			20		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99690287	99690287	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:99690287C>T	uc001pga.3	+	3	572	c.68C>T	c.(67-69)tCt>tTt	p.S23F	CNTN5_uc009ywv.2_Missense_Mutation_p.S23F|CNTN5_uc001pfz.3_Missense_Mutation_p.S23F|CNTN5_uc021qpb.1_Missense_Mutation_p.S23F|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	23			S -> A (in dbSNP:rs10790978).		cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TATTCAAAATCTCTTCCTGGT	0.323000														37			7		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155011	22155011	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:22155011T>A	uc021urr.1	-	3	2974	c.2825A>T	c.(2824-2826)gAg>gTg	p.E942V	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTAGAATTTCTCTCCAGCATG	0.363000														12			8		0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75227701	75227701	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:75227701G>A	uc003yae.3	-	1	574	c.534C>T	c.(532-534)gaC>gaT	p.D178D	JPH1_uc003yaf.3_Silent_p.D178D|JPH1_uc003yag.1_Silent_p.D42D	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	178					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CGGCTGCGGCGTCGTGGAGCA	0.701000														12			9		0	0	1	0	0
MGAT2	4247	broad.mit.edu	37	14	50089303	50089303	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:50089303C>T	uc001wwr.3	+	0	1815	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	NEMF_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank	NM_002408	NP_002399	Q10469	MGAT2_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase (MGAT2), mRNA.	439					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					ACCATGAACTCTGTAAAAGTT	0.368000														50			10		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67829092	67829092	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:67829092G>A	uc009xpn.1	-	14	2256	c.2133C>T	c.(2131-2133)atC>atT	p.I711I	CTNNA3_uc001jmw.2_Silent_p.I711I	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	711					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TCTCCATCATGATCATACACA	0.358000														61			53		0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132652232	132652232	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:132652232C>T	uc003kyn.1	-	4	740	c.522G>A	c.(520-522)caG>caA	p.Q174Q		NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	174	EF-hand.					extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAGGCGCTTCTGGGAGGCAG	0.592000											OREG0016777	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			19		0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42287016	42287016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:42287016G>A	uc010czs.3	-	15	2008	c.1712C>T	c.(1711-1713)cCc>cTc	p.P571L	UBTF_uc002igc.3_Missense_Mutation_p.P534L|UBTF_uc002igd.3_Missense_Mutation_p.P534L|UBTF_uc010czt.3_Missense_Mutation_p.P571L|UBTF_uc002ige.2_Missense_Mutation_p.P534L	NM_014233	NP_055048	P17480	UBF1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA.	571					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGCTCACATGGGAGGCTTCTT	0.582000														40			12		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531530	42531530	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:42531530C>T	uc010dni.3	+	3	2521	c.2225C>T	c.(2224-2226)cCc>cTc	p.P742L		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	742						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCCGAAGAACCCAAAACAGCC	0.562000									Schinzel-Giedion syndrome					1			7		0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74737299	74737299	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:74737299C>T	uc001dge.2	+	6	721	c.654C>T	c.(652-654)atC>atT	p.I218I	FPGT-TNNI3K_uc001dgc.2_Silent_p.I218I|FPGT-TNNI3K_uc001dgd.3_Silent_p.I218I|FPGT-TNNI3K_uc001dgf.2_Silent_p.I117I	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	117						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										CAGAATTGATCACTTCTCTGC	0.428000														288			36		0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38906652	38906652	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:38906652G>A	uc002hve.3	-	5	1216	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	385	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTCCTATAAGGAGACAGTAGG	0.473000														165			49		0	0	1	0	0
SYT13	57586	broad.mit.edu	37	11	45275930	45275930	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:45275930C>T	uc001myq.2	-	2	561	c.435G>A	c.(433-435)atG>atA	p.M145I	SYT13_uc009yku.1_Missense_Mutation_p.M1I	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	145						transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						TCCAGGTCTCCATGACACAGA	0.512000														29			16		0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139189358	139189358	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:139189358C>T	uc003leu.1	+	1	538	c.333C>T	c.(331-333)tcC>tcT	p.S111S		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	111					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAATGCTTCCAGGAGCCTCT	0.597000														34			88		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14647118	14647118	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:14647118G>A	uc003ssz.3	-	15	1564	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	DGKB_uc011jxt.2_Silent_p.F440F|DGKB_uc003sta.3_Silent_p.F459F|DGKB_uc011jxu.2_Silent_p.F458F	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	459	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	ATAGATACTGGAATTTTCTGT	0.284000														71			7		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95761542	95761542	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:95761542C>T	uc003kls.2	-	2	617	c.378G>A	c.(376-378)tgG>tgA	p.W126*	PCSK1_uc021ybq.1_Nonsense_Mutation_p.W79*	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	126	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATTGCTGATTCCACATGGGAT	0.418000														21			14		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39886529	39886529	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:39886529C>T	uc001zkh.3	+	20	3572	c.3393C>T	c.(3391-3393)atC>atT	p.I1131I	THBS1_uc010bbi.3_Silent_p.I603I	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	1131	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GGAAGAAAATCATGGCTGACT	0.393000														44			27		0	0	1	0	0
WNT5A	7474	broad.mit.edu	37	3	55504257	55504257	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:55504257C>T	uc003dhn.3	-	4	1324	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	WNT5A_uc003dhm.3_Missense_Mutation_p.E321K|WNT5A_uc010hmw.3_Missense_Mutation_p.E321K|WNT5A_uc010hmx.3_Missense_Mutation_p.E247K	NM_003392	NP_003383	P41221	WNT5A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5A (WNT5A), transcript variant 1, mRNA.	336					Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of BMP signaling pathway|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell chemotaxis|positive regulation of angiogenesis|positive regulation of cGMP metabolic process|positive regulation of cartilage development|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CACATGAGCTCGCAGCCATCC	0.637000														54			27		0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48511117	48511117	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:48511117G>A	uc010rhx.2	+	0	773	c.773G>A	c.(772-774)aGa>aAa	p.R258K		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ATGTATGCTAGACCTGCTAGG	0.428000														113			45		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56416366	56416366	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56416366C>T	uc010ygg.2	-	7	2585	c.2560G>A	c.(2560-2562)Ggc>Agc	p.G854S		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	854							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGCTTTATGCCATCATCTTGG	0.493000														52			10		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513594	99513594	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:99513594G>A	uc003dti.1	+	2	980	c.852G>A	c.(850-852)caG>caA	p.Q284Q	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Silent_p.Q283Q|COL8A1_uc003dth.1_Silent_p.Q283Q	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	283	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CTGGGCCCCAGGGCCCCCTGG	0.662000														29			15		0	0	1	0	0
TES	26136	broad.mit.edu	37	7	115889214	115889214	+	Missense_Mutation	SNP	C	T	T	rs78197118	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:115889214C>T	uc003vho.3	+	2	469	c.254C>T	c.(253-255)cCc>cTc	p.P85L	TES_uc011kmx.2_Missense_Mutation_p.P85L|TES_uc011kmy.2_Intron|TES_uc010lka.2_Missense_Mutation_p.P76L|TES_uc003vhp.3_Missense_Mutation_p.P76L|TES_uc022aki.1_Non-coding_Transcript	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.	85					negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			GATGGAATTCCCATGTATAAA	0.413000														49			17		0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150463097	150463097	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:150463097C>T	uc001euq.3	+	3	415	c.408C>T	c.(406-408)acC>acT	p.T136T	TARS2_uc010pcd.1_Intron|TARS2_uc001eur.3_Silent_p.T136T|TARS2_uc009wlt.3_Intron|TARS2_uc009wls.3_Silent_p.T136T	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA.	136					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	ACTCCAGCACCCATGTCCTGG	0.483000														77			72		0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371337	48371337	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:48371337C>T	uc001jex.3	+	1	967	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L	ZNF488_uc021ppx.1_Silent_p.L269L	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CCTCACCTCCCTGGGCTTGTC	0.607000														41			19		0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3723945	3723945	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:3723945A>G	uc001lyh.3	-	22	3681	c.3260T>C	c.(3259-3261)gTt>gCt	p.V1087A	NUP98_uc001lyi.3_Missense_Mutation_p.V1087A|NUP98_uc001lyg.3_Intron	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	1104					DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TTTCAACGGAACCTCAGGGGC	0.522000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									33			20		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120782129	120782129	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:120782129C>T	uc003vjq.4	+	15	2436	c.1989C>T	c.(1987-1989)acC>acT	p.T663T	C7orf58_uc003vjs.4_Silent_p.T663T|C7orf58_uc003vjt.4_Silent_p.T443T	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	663						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					ACAAACTCACCATCTATAGAG	0.453000														75			30		0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58571079	58571079	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:58571079C>T	uc002ybe.3	+	11	2169	c.1858C>T	c.(1858-1860)Cct>Tct	p.P620S	CDH26_uc002ybf.1_Missense_Mutation_p.P200S|CDH26_uc010zzy.2_Non-coding_Transcript|CDH26_uc002ybh.3_5'Flank|CDH26_uc002ybi.3_5'Flank	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	620					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GGCCCTGTTCCCTGTCTGTGC	0.597000														46			9		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128493530	128493530	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:128493530G>A	uc003vnz.4	+	37	6425	c.6216G>A	c.(6214-6216)ggG>ggA	p.G2072G	FLNC_uc003voa.4_Silent_p.G2039G	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2072					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAGGTTATGGGGGCTTGGGGC	0.582000														30			9		0	0	1	0	0
RIN1	9610	broad.mit.edu	37	11	66099956	66099956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:66099956C>T	uc001ohn.1	-	9	2270	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	RIN1_uc010roy.1_Missense_Mutation_p.E346K|RIN1_uc009yrd.1_Missense_Mutation_p.E408K|RIN1_uc010roz.1_Missense_Mutation_p.E610K|RIN1_uc010rpa.1_Missense_Mutation_p.E549K	NM_004292	NP_004283	Q13671	RIN1_HUMAN	Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA.	715	Ras and 14-3-3 protein binding region.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CCCTCCTCCTCTGTCACAGCC	0.692000														140			39		0	0	1	0	0
FCF1	51077	broad.mit.edu	37	14	75200864	75200864	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:75200864C>T	uc001xqh.3	+	6	590	c.539C>T	c.(538-540)tCt>tTt	p.S180F	FCF1_uc001xqf.1_Missense_Mutation_p.S165F|FCF1_uc001xqi.3_Non-coding_Transcript	NM_015962	NP_057046	Q9Y324	FCF1_HUMAN	Homo sapiens FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) (FCF1), mRNA.	180					rRNA processing	nucleolus				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		ATGTACATTTCTAACCATAGG	0.363000														29			9		0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42875112	42875112	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:42875112C>T	uc001uys.2	+	7	2405	c.2230C>T	c.(2230-2232)Cct>Tct	p.P744S		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	744					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CACGTTTTCCCCTTCTTTTCA	0.418000														40			19		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100166729	100166729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:100166729C>T	uc001tge.2	-	7	1516	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.E333K	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	367						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTCCCAAGTTCTTCCTCTGAA	0.393000														4			27		0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73497860	73497860	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:73497860C>T	uc002joc.3	-	18	3845	c.3295_splice	c.e18+1	p.G1099_splice	CASKIN2_uc010wsc.2_Splice_Site_p.G1017_splice	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	1099	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCCTCTTACCTGCTCCGGGC	0.637000														137			31		0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49714469	49714469	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:49714469C>T	uc002pmw.3	+	23	3691	c.3583C>T	c.(3583-3585)Cgc>Tgc	p.R1195C	TRPM4_uc010emu.3_Missense_Mutation_p.R1050C|TRPM4_uc010yak.2_Missense_Mutation_p.R659C|TRPM4_uc002pmx.3_Missense_Mutation_p.R1021C|TRPM4_uc010emv.3_Missense_Mutation_p.R1080C|TRPM4_uc010yal.2_Missense_Mutation_p.R841C|TRPM4_uc002pmy.3_Missense_Mutation_p.R537C	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	1195					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGCCCTGAGCCGCTCTGCCTT	0.667000														10			4		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193061825	193061825	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:193061825G>A	uc011bsq.2	-	8	834	c.834C>T	c.(832-834)tcC>tcT	p.S278S		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	278					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CCAAGAGACGGGATTCCAGCT	0.418000														15			12		0	0	1	0	0
FKBP9	11328	broad.mit.edu	37	7	33044793	33044793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:33044793G>A	uc011kal.2	+	10	1883	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	AVL9_uc011kai.2_Intron|FKBP9_uc011kak.1_Non-coding_Transcript|FKBP9_uc003tdh.3_Missense_Mutation_p.E515K|FKBP9_uc011kam.2_Missense_Mutation_p.E283K	NM_007270	NP_009201	O95302	FKBP9_HUMAN	Homo sapiens FK506 binding protein 9, 63 kDa (FKBP9), mRNA.	515	EF-hand 2.				protein folding	endoplasmic reticulum|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CCAGTTCTCAGAGTACATTCA	0.547000														96			11		0	0	1	0	0
ELMO2	63916	broad.mit.edu	37	20	45004421	45004421	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:45004421G>A	uc010zxr.1	-	12	1062	c.852C>T	c.(850-852)atC>atT	p.I284I	ELMO2_uc010zxq.1_Silent_p.I4I|ELMO2_uc002xrs.1_Silent_p.I19I|ELMO2_uc002xrt.1_Silent_p.I272I|ELMO2_uc002xru.1_Silent_p.I272I|ELMO2_uc010zxs.1_Silent_p.I89I|ELMO2_uc002xrv.1_5'UTR|ELMO2_uc002xrw.3_Silent_p.I89I|ELMO2_uc002xrx.1_Silent_p.I272I	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN	Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA.	272					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	SH3 domain binding|lyase activity|receptor tyrosine kinase binding	p.H284L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GGTTCCCTCGGATCACATGCT	0.473000														38			9		0	0	1	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16952329	16952329	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrY:16952329C>T	uc011nas.1	+	6	1877	c.1698C>T	c.(1696-1698)ttC>ttT	p.F566F	NLGN4Y_uc004fte.2_Silent_p.F378F|NLGN4Y_uc004ftg.2_Silent_p.F546F|NLGN4Y_uc004ftf.2_Silent_p.F239F|NLGN4Y_uc004fth.2_Silent_p.F546F	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	546					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						ATACCAAGTTCATTCATACAA	0.408000														33			27		0	0	1	0	0
ZNF705A	440077	broad.mit.edu	37	12	8329765	8329765	+	Silent	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:8329765A>G	uc001qud.1	+	4	561	c.489A>G	c.(487-489)aaA>aaG	p.K163K		NM_001004328	NP_001004328	Q6ZN79	Z705A_HUMAN	Homo sapiens zinc finger protein 705A (ZNF705A), mRNA.	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		AACCACATAAACAAATTCATA	0.378000														145			35		0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76797712	76797712	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:76797712C>T	uc003hix.3	-	10	1405	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.E350K	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	350	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	p.E350*(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAGCGGCTTTCGGGGAGAAAC	0.587000														20			32		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54721255	54721255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:54721255G>A	uc010erh.1	-	12	1857	c.1733C>T	c.(1732-1734)tCa>tTa	p.S578L	LILRB3_uc002qee.1_Missense_Mutation_p.S562L|LILRB3_uc002qef.1_Missense_Mutation_p.S561L|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Missense_Mutation_p.S562L|LILRB3_uc002qeh.1_Missense_Mutation_p.S561L|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Missense_Mutation_p.S561L|LILRB3_uc002qek.1_Missense_Mutation_p.S562L|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Missense_Mutation_p.S561L|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Missense_Mutation_p.S562L|LILRB3_uc002qep.1_Missense_Mutation_p.S562L|LILRB3_uc002qeq.1_Missense_Mutation_p.S561L	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	561					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCAGACAGTGAGGAGGGAGG	0.587000														44			12		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900779	51900779	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:51900779G>A	uc002iua.2	+	0	541	c.385G>A	c.(385-387)Gac>Aac	p.D129N	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	129					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			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						AGCCTCAGGGGACAGCCTGGA	0.572000														111			24		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144946528	144946528	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:144946528C>T	uc003zaa.1	-	0	907	c.894G>A	c.(892-894)aaG>aaA	p.K298K		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	298						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)			AAAAGCTCTTCTTGTGGCCTT	0.687000														75			19		0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159579	18159579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:18159579C>T	uc021qek.1	+	0	830	c.830C>T	c.(829-831)tCc>tTc	p.S277F	MRGPRX3_uc001mnu.3_Missense_Mutation_p.S277F	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	277						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTCGTGGGCTCCTTTAGGCAG	0.507000														52			14		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197032154	197032154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:197032154C>T	uc001gtt.1	-	1	142	c.98G>A	c.(97-99)gGa>gAa	p.G33E		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	33	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GGCAATTCTTCCATTTTCCAC	0.318000														90			126		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79434659	79434659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:79434659C>T	uc001xun.3	+	10	2484	c.1993C>T	c.(1993-1995)Cgg>Tgg	p.R665W	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.R790W	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane		p.R665W(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGCTCTTCATCGGAGCGGACA	0.527000														39			24		0	0	1	0	0
IL5RA	3568	broad.mit.edu	37	3	3139681	3139681	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:3139681G>A	uc011ask.2	-	7	1226	c.582C>T	c.(580-582)atC>atT	p.I194I	IL5RA_uc010hbq.3_Silent_p.I194I|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Silent_p.I194I|IL5RA_uc011asl.2_Silent_p.I194I|IL5RA_uc011asm.1_Silent_p.I194I|IL5RA_uc010hbt.2_Silent_p.I194I|IL5RA_uc011asn.1_Silent_p.I194I|IL5RA_uc010hbu.2_Silent_p.I194I	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	194					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		ACCAGCATGCGATATTTCTCC	0.483000														55			23		0	0	1	0	0
TCR-alpha	0	broad.mit.edu	37	14	22789052	22789052	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:22789052G>A	uc001wdr.2	+	1	317	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	TCRA_uc001wbw.2_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 41, partial cds, clone: SEB 69.																		AAACATACAGGAAAAGCACAG	0.527000														31			4		0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2983234	2983235	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:2983234_2983235GG>AA	uc001qlf.3	-	1	693_694	c.410_411CC>TT	c.(409-411)acc>aTT	p.T137I	FOXM1_uc001qle.3_Missense_Mutation_p.T137I|FOXM1_uc009zea.3_Missense_Mutation_p.T137I|FOXM1_uc009zeb.3_Missense_Mutation_p.T137I|FOXM1_uc001qlg.3_Missense_Mutation_p.T137I	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	137					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			AGGTCTCCAGGGTCACTTCTGT	0.545000														90			55		0	0	1	0	0
YY1	7528	broad.mit.edu	37	14	100743846	100743846	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:100743846G>T	uc001ygy.1	+	4	1634	c.1154G>T	c.(1153-1155)tGc>tTc	p.C385F	BC014138_uc001ygz.2_5'Flank	NM_003403	NP_003394	P25490	TYY1_HUMAN	Homo sapiens YY1 transcription factor (YY1), mRNA.	385	Involved in masking transactivation domain.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.C385F(2)		cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				CCCTATGTGTGCCCCTTCGAT	0.463000														63			7		0.00198382	0.0019853	1	1	0
SENP7	57337	broad.mit.edu	37	3	101044924	101044924	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:101044924C>T	uc003dut.3	-	24	3127	c.3016_splice	c.e24-1	p.D1006_splice	SENP7_uc003duu.3_Splice_Site_p.D941_splice|SENP7_uc003duv.3_Splice_Site_p.D973_splice|SENP7_uc003duw.3_Splice_Site_p.D940_splice|SENP7_uc003dux.3_Splice_Site_p.D842_splice|SENP7_uc003dus.3_Splice_Site_p.D194_splice	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	1006	Protease.			D -> N (in Ref. 1; AAL25651).	proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACAATAGGATCCTAATGAGAG	0.303000														10			7		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2706434	2706434	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:2706434C>T	uc009zdu.1	+	20	3145	c.2832C>T	c.(2830-2832)ttC>ttT	p.F944F	CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qjz.2_Silent_p.F944F|CACNA1C_uc001qkd.2_Silent_p.F944F|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc009zdw.1_Silent_p.F944F|CACNA1C_uc001qkg.2_Silent_p.F944F|CACNA1C_uc001qkh.2_Silent_p.F944F|CACNA1C_uc001qkl.2_Silent_p.F944F|CACNA1C_uc001qkj.2_Silent_p.F944F|CACNA1C_uc001qkk.2_Silent_p.F944F|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qkm.2_Silent_p.F944F|CACNA1C_uc001qko.2_Silent_p.F944F|CACNA1C_uc001qkp.2_Intron|CACNA1C_uc001qkq.2_Silent_p.F944F|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkr.2_Intron|CACNA1C_uc001qks.2_Silent_p.F944F|CACNA1C_uc001qkt.2_Silent_p.F944F|CACNA1C_uc009zdv.1_Silent_p.F941F|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Silent_p.F680F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	944					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCACCATTTTCACCATTGAAA	0.493000														73			66		0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31432951	31432951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:31432951G>A	uc010dmi.3	-	10	2070	c.1772C>T	c.(1771-1773)tCc>tTc	p.S591F	NOL4_uc010xbs.2_Missense_Mutation_p.S306F|NOL4_uc002kxr.4_Missense_Mutation_p.S363F|NOL4_uc010xbt.2_Missense_Mutation_p.S517F|NOL4_uc010dmh.3_Missense_Mutation_p.S453F|NOL4_uc010xbu.2_Missense_Mutation_p.S527F|NOL4_uc002kxt.4_Missense_Mutation_p.S489F	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	591						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GCTGCTGGAGGATCCTGAGCT	0.428000														37			13		0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747551	143747551	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:143747551C>T	uc011ktw.2	+	0	57	c.57C>T	c.(55-57)agC>agT	p.S19S		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TTCCACTCAGCCTAAGGATTC	0.517000														52			44		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49459654	49459654	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:49459654G>A	uc001jgi.3	-	1	437	c.106C>T	c.(106-108)Ctc>Ttc	p.L36F	FRMPD2_uc001jgh.3_Missense_Mutation_p.L27F|FRMPD2_uc001jgj.3_Missense_Mutation_p.L27F	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	36	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AGGAACAGGAGGGACCAGATT	0.562000														39			13		0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123782685	123782685	+	Silent	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:123782685T>A	uc010tap.2	-	29	3879	c.3879A>T	c.(3877-3879)ctA>ctT	p.L1293L	SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Silent_p.L1292L|SBNO1_uc010taq.2_Silent_p.L244L	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1293							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTTCACAAACTAGCCCCAAGC	0.403000														41			19		0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73736187	73736187	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:73736187C>T	uc004aid.3	-	0	328	c.84G>A	c.(82-84)ggG>ggA	p.G28G	TRPM3_uc004aic.3_Silent_p.G28G|TRPM3_uc010mor.3_Silent_p.G28G|TRPM3_uc004aii.3_Intron	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	28						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GATTCATGACCCCTTCCAAAT	0.512000														28			19		0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944743	55944743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55944743C>T	uc010rjb.2	+	0	650	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GTGATCATTTCCTACATCTTC	0.488000														63			45		0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48416652	48416652	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:48416652G>A	uc001jfa.1	-	0	202	c.42C>T	c.(40-42)tcC>tcT	p.S14S		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	14					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CAGCCAGCAGGGACAGCAGGG	0.687000														6			3		0	0	1	0	0
SNPH	9751	broad.mit.edu	37	20	1286066	1286066	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:1286066C>T	uc002wet.3	+	6	1666	c.985C>T	c.(985-987)Ccc>Tcc	p.P329S	SNPH_uc002wes.3_Missense_Mutation_p.P285S	NM_014723	NP_055538	O15079	SNPH_HUMAN	Homo sapiens syntaphilin (SNPH), mRNA.	285					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CGGCCTGGGCCCCCGCTTCCC	0.657000														46			10		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15730014	15730014	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:15730014C>T	uc001ioc.1	-	2	367	c.367G>A	c.(367-369)Gga>Aga	p.G123R	ITGA8_uc010qcb.1_Missense_Mutation_p.G123R	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	123					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCTTTGGTTCCATTAACTCTG	0.368000														109			34		0	0	1	0	0
TEAD2	8463	broad.mit.edu	37	19	49846637	49846637	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:49846637G>A	uc002pnh.3	-	10	1046	c.940C>T	c.(940-942)Cca>Tca	p.P314S	TEAD2_uc002png.3_Missense_Mutation_p.P313S|TEAD2_uc002pni.3_Missense_Mutation_p.P313S|TEAD2_uc002pnj.3_Missense_Mutation_p.P310S|TEAD2_uc010yao.2_Missense_Mutation_p.P182S|TEAD2_uc010emw.3_Missense_Mutation_p.P313S	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	Homo sapiens TEA domain family member 2 (TEAD2), mRNA.	310	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		TCACCACTTGGGCCCCAGTTC	0.602000														79			18		0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134120158	134120158	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:134120158C>T	uc003kzw.3	+	9	1437	c.1269C>T	c.(1267-1269)acC>acT	p.T423T	DDX46_uc003kzv.1_Non-coding_Transcript	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA.	423	Helicase ATP-binding.				RNA splicing|mRNA processing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGGAAAGACCATTGCTTTTC	0.423000														46			18		0	0	1	0	0
HOXA9	3205	broad.mit.edu	37	7	27204695	27204695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:27204695G>A	uc003syt.3	-	0	455	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	HOXA9_uc022aar.1_Intron	NM_152739	NP_689952	P31269	HXA9_HUMAN	Homo sapiens homeobox A9 (HOXA9), mRNA.	128							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						CCATAAGGCCGGCTGGAGGGC	0.662000			T	"""NUP98, MSI2"""	AML*									38			7		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142649704	142649704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142649704C>T	uc003wcb.3	-	9	1305	c.1095G>A	c.(1093-1095)atG>atA	p.M365I		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	365					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.M365I(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCCCTAAGATCATGTGGCTCT	0.527000														32			13		0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23295898	23295898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:23295898G>A	uc001irm.4	+	13	1900	c.1817G>A	c.(1816-1818)aGt>aAt	p.S606N	ARMC3_uc010qcv.2_Missense_Mutation_p.S606N|ARMC3_uc010qcw.2_Missense_Mutation_p.S343N	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	606							binding	p.S606I(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTAATCAACAGTAAATCTTAC	0.438000														109			29		0	0	1	0	0
OR2H2	7932	broad.mit.edu	37	6	29555902	29555902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29555902C>T	uc003nmr.1	+	0	220	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F	GABBR1_uc003nmp.4_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA.	61					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GTACTTTTTCCTCTCCAACCT	0.532000														110			21		0	0	1	0	0
ICA1L	130026	broad.mit.edu	37	2	203682187	203682187	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:203682187C>T	uc002uzh.1	-	6	802	c.638G>A	c.(637-639)gGa>gAa	p.G213E	ICA1L_uc002uzi.1_Missense_Mutation_p.G213E|ICA1L_uc021vvi.1_Non-coding_Transcript	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA.	213	AH.									breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCGACTAGCTCCAAGTAAATC	0.403000														81			118		0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123886642	123886642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:123886642C>T	uc010sac.2	+	0	361	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R121C(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTCCTATGATCGCTACTTGGC	0.572000														26			31		0	0	1	0	0
EMID2	136227	broad.mit.edu	37	7	101183236	101183236	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:101183236G>A	uc010lhy.1	+	4	696	c.504G>A	c.(502-504)gaG>gaA	p.E168E	EMID2_uc003uyo.1_Silent_p.E170E	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	Homo sapiens EMI domain containing 2 (EMID2), mRNA.	170						collagen				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	18	Lung NSC(181;0.215)					CAGCCCCCGAGAGCACTCCGC	0.652000														35			10		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967853	4967853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:4967853G>A	uc010qys.2	-	0	478	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGGGAAGGGAAGAACCAGG	0.438000														199			79		0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5009529	5009529	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5009529G>A	uc001lzv.3	+	0	106	c.88G>A	c.(88-90)Gac>Aac	p.D30N		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	30					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)		TAAAGGATGGGACTTTGTTGA	0.483000														99			22		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137872754	137872754	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:137872754G>A	uc002tva.1	+	3	1167	c.1167G>A	c.(1165-1167)caG>caA	p.Q389Q	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.Q279Q	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCGAGCAGCAGGATCCCCACT	0.537000														19			6		0	0	1	0	0
NEK9	91754	broad.mit.edu	37	14	75567738	75567738	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:75567738G>A	uc001xrl.3	-	15	2113	c.1959C>T	c.(1957-1959)atC>atT	p.I653I	NEK9_uc001xrk.3_Silent_p.I153I	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 9 (NEK9), mRNA.	653					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		AGGAGACCCTGATCACTTGCT	0.517000														69			16		0	0	1	0	0
MGRN1	23295	broad.mit.edu	37	16	4732940	4732940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:4732940C>T	uc002cxa.3	+	13	1612	c.1475C>T	c.(1474-1476)tCc>tTc	p.S492F	MGRN1_uc002cwz.3_Missense_Mutation_p.S492F|MGRN1_uc010uxo.2_Missense_Mutation_p.S470F|MGRN1_uc010uxp.2_Missense_Mutation_p.S470F|MGRN1_uc010btw.3_Missense_Mutation_p.S471F|MGRN1_uc010uxq.2_Non-coding_Transcript	NM_015246	NP_056061	O60291	MGRN1_HUMAN	Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.	492					endosome to lysosome transport|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of cAMP-mediated signaling|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GAAAGCAGCTCCCCTGAGGTG	0.692000														5			6		0	0	1	0	0
C15orf38-AP3S2	100526783	broad.mit.edu	37	15	90447118	90447118	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:90447118G>A	uc002bos.4	-	3	554	c.399C>T	c.(397-399)acC>acT	p.T133T	C15orf38-AP3S2_uc002bot.1_Non-coding_Transcript|C15orf38-AP3S2_uc002bou.2_Silent_p.T133T	NM_001199058	NP_001185987	E2QRD5	E2QRD5_HUMAN	Homo sapiens C15orf38-AP3S2 readthrough (C15orf38-AP3S2), mRNA.	133					intracellular protein transport|vesicle-mediated transport	membrane coat	protein transporter activity										TGTGGTCGGGGGTGAGGCTCT	0.652000														47			33		0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28157510	28157510	+	Silent	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:28157510A>G	uc002dpa.1	-	8	1740	c.1239T>C	c.(1237-1239)ggT>ggC	p.G413G	XPO6_uc002dpb.1_Silent_p.G399G|XPO6_uc010vcp.1_Silent_p.G413G	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	413					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AAGAGAAGTAACCTTCATGAG	0.363000														23			40		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179578750	179578750	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179578750T>C	uc021vsy.1	-	88	23128	c.22903A>G	c.(22903-22905)Agc>Ggc	p.S7635G	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4296G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8562	Ig-like 58.						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)			TTGAAGAAGCTTATTTTGTAT	0.443000														18			9		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120760	94120760	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:94120760C>T	uc003poe.3	-	2	532	c.291G>A	c.(289-291)agG>agA	p.R97R	EPHA7_uc003pof.3_Silent_p.R97R|EPHA7_uc011eac.2_Silent_p.R97R|EPHA7_uc003pog.4_Silent_p.R97R	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	97						integral to plasma membrane	ATP binding|ephrin receptor activity	p.Q96Q(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTACAAAAATCCTTTGTGCAT	0.423000														31			22		0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	77089262	77089262	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:77089262C>T	uc002lmx.3	+	15	1909	c.1895C>T	c.(1894-1896)cCc>cTc	p.P632L	ATP9B_uc002lmv.1_Non-coding_Transcript|ATP9B_uc002lmw.1_Missense_Mutation_p.P632L|ATP9B_uc002lmz.1_Missense_Mutation_p.P326L	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	632					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CAGCTGTTTCCCTTCACCTCC	0.592000														34			23		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82785355	82785355	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:82785355C>T	uc003uhx.2	-	1	891	c.602G>A	c.(601-603)gGa>gAa	p.G201E	PCLO_uc003uhv.2_Missense_Mutation_p.G201E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	201	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G201V(4)		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						TTCAGGTTTTCCTTGCTCCTT	0.448000														24			22		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90004662	90004662	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:90004662C>T	uc003kju.3	+	38	8856	c.8760C>T	c.(8758-8760)ttC>ttT	p.F2920F	GPR98_uc003kjt.3_Silent_p.F626F|GPR98_uc003kjv.3_Silent_p.F520F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2920	Calx-beta 20.				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)		AAGAATATTTCCTGGTGAATT	0.358000														28			34		0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205273347	205273347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:205273347G>A	uc001hce.3	-	6	1245	c.1118C>T	c.(1117-1119)tCg>tTg	p.S373L		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	373					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CTTCTTGAGCGAATGCTGGCG	0.617000														76			18		0	0	1	0	0
TRIM4	89122	broad.mit.edu	37	7	99490094	99490094	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:99490094C>G	uc003usd.3	-	6	1394	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	TRIM4_uc003use.3_Missense_Mutation_p.E373Q|TRIM4_uc011kjc.2_Missense_Mutation_p.E229Q	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA.	399	B30.2/SPRY.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	p.R398L(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				ATGACGTCCTCCCGACACACC	0.488000														154			79		0	0	1	0	0
PRSS42	339906	broad.mit.edu	37	3	46871983	46871983	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:46871983C>T	uc011bap.2	-	5	793	c.793_splice	c.e5-1	p.G265_splice	PRSS42_uc003cqj.3_Splice_Site_p.G92_splice	NM_182702	NP_874361	Q7Z5A4	PRS42_HUMAN	Homo sapiens protease, serine, 42 (PRSS42), mRNA.	265	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						CCAGAATCTCCCTAGAGAAAG	0.502000														9			4		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13417045	13417045	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:13417045G>A	uc003bxv.1	-	10	1473	c.1390C>T	c.(1390-1392)Ccg>Tcg	p.P464S	NUP210_uc003bxx.3_Missense_Mutation_p.P136S	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	464					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGTTGCCACGGAAATGTCAAG	0.527000														102			34		0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109865368	109865368	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:109865368G>A	uc010sxn.1	+	17	1878	c.1878G>A	c.(1876-1878)agG>agA	p.R626R		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CATACCGAAGGAAATACGAGC	0.443000														186			127		0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16177243	16177243	+	Silent	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:16177243A>T	uc010bvi.3	+	16	2311	c.2136A>T	c.(2134-2136)ccA>ccT	p.P712P	ABCC1_uc010bvj.3_Intron|ABCC1_uc010bvk.3_Silent_p.P712P|ABCC1_uc010bvl.3_Silent_p.P712P|ABCC1_uc010bvm.3_Intron|ABCC1_uc002del.4_Silent_p.P596P	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	712	ABC transporter 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCTATGTGCCACAGCAGGCCT	0.527000														40			14		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55039415	55039415	+	Silent	SNP	C	T	T	rs143272352		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:55039415C>T	uc003pcl.3	+	0	345	c.30C>T	c.(28-30)ccC>ccT	p.P10P	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	10			P -> S (in dbSNP:rs41271310).		feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGGACTCCCCCCCTTGTCGCA	0.557000														42			21		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153190618	153190618	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:153190618G>A	uc011dcy.2	+	15	2611	c.2584G>A	c.(2584-2586)Gaa>Aaa	p.E862K	GRIA1_uc003lva.4_Missense_Mutation_p.E852K|GRIA1_uc003luy.4_Missense_Mutation_p.E852K|GRIA1_uc003luz.4_Missense_Mutation_p.E757K|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.E772K|GRIA1_uc011dcx.2_Missense_Mutation_p.E783K|GRIA1_uc011dcz.2_Missense_Mutation_p.E862K	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	852					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATCCATCAACGAAGCCATACG	0.587000														20			52		0	0	1	0	0
RTP3	83597	broad.mit.edu	37	3	46542359	46542359	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:46542359C>T	uc003cps.1	+	1	737	c.669C>T	c.(667-669)atC>atT	p.I223I		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 3 (RTP3), mRNA.	223					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TCATTGTTATCGTGGTGATTG	0.378000														11			32		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129563246	129563246	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:129563246T>C	uc009zyl.1	-	7	2276	c.1948A>G	c.(1948-1950)Atc>Gtc	p.I650V	TMEM132D_uc001uia.2_Missense_Mutation_p.I188V	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	650						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCAGCGAGGATGGTGTCTGAC	0.567000														64			18		0	0	1	0	0
SH2D1A	4068	broad.mit.edu	37	X	123504071	123504071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:123504071C>T	uc004euf.4	+	2	608	c.247C>T	c.(247-249)Ctc>Ttc	p.L83F	SH2D1A_uc004euh.4_Missense_Mutation_p.L83F|SH2D1A_uc004eug.4_Intron|SH2D1A_uc010nqw.3_Intron|SH2D1A_uc004eui.4_Non-coding_Transcript|SH2D1A_uc010nqx.3_Intron	NM_002351	NP_002342	O60880	SH21A_HUMAN	Homo sapiens SH2 domain containing 1A (SH2D1A), transcript variant 1, mRNA.	83	SH2.				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity	p.L83V(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AATAAAAAATCTCATTTCAGC	0.373000														4			54		0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68169972	68169972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:68169972G>A	uc003xxo.2	-	16	2911	c.2521C>T	c.(2521-2523)Cca>Tca	p.P841S	ARFGEF1_uc003xxl.1_Missense_Mutation_p.P295S	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	841					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CATACCTGTGGACTGTGAAGG	0.308000														33			83		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408246	10408246	+	Missense_Mutation	SNP	C	T	T	rs112853460		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10408246C>T	uc002gmo.3	-	21	2666	c.2572G>A	c.(2572-2574)Gaa>Aaa	p.E858K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	858						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						TCAAATTCTTCCTTCATGTTG	0.423000														92			20		0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123152385	123152385	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:123152385G>A	uc003vkn.3	-	1	587	c.10C>T	c.(10-12)Caa>Taa	p.Q4*	IQUB_uc003vko.3_Nonsense_Mutation_p.Q4*|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Nonsense_Mutation_p.Q4*|IQUB_uc003vkq.2_Nonsense_Mutation_p.Q4*	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	4				Q -> R (in Ref. 1; BAC04074).				p.Q4H(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTCTCCTGTTGATTAGACATT	0.328000														25			5		0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187201727	187201727	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:187201727G>A	uc003iza.1	+	9	1461	c.1128G>A	c.(1126-1128)atG>atA	p.M376I		NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	376					blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TGTGTAAAATGGATAATGGTG	0.383000														28			6		0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538822	27538822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:27538822G>A	uc001its.2	-	0	2414	c.571C>T	c.(571-573)Cct>Tct	p.P191S						Homo sapiens leucine rich repeat containing 37, member A family pseudogene (LOC387646), non-coding RNA.																		ACTACATTAGGGAGCTCTGGA	0.527000														106			88		0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32915324	32915324	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:32915324C>T	uc003cff.3	+	1	930	c.867C>T	c.(865-867)taC>taT	p.Y289Y		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	289					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGCACCTGTACTGTGACACTT	0.597000														320			94		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201054598	201054598	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:201054598C>T	uc001gvv.3	-	7	1343	c.1116G>A	c.(1114-1116)caG>caA	p.Q372Q		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	372	Binding to the beta subunit (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGACCTCGCCCTGCGTGATCC	0.577000											OREG0014068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		133			27		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940278	144940278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:144940278C>T	uc003zaa.1	-	0	7157	c.7144G>A	c.(7144-7146)Gac>Aac	p.D2382N		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2382						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)			CCCTTGGTGTCGTCGCTGGGG	0.657000														378			14		0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47360066	47360066	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:47360066G>A	uc002zhq.2	+	12	1157	c.1032G>A	c.(1030-1032)acG>acA	p.T344T	PCBP3_uc002zhp.2_Silent_p.T324T|PCBP3_uc002zhs.2_Silent_p.T318T|PCBP3_uc002zht.2_Silent_p.T334T	NM_020528	NP_065389	P57721	PCBP3_HUMAN	Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.	344	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	p.T344T(1)|p.T312T(1)		biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TCACCATCACGGGGACCCCGG	0.577000														45			14		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13769713	13769713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:13769713C>T	uc003jfd.2	-	56	9659	c.9617G>A	c.(9616-9618)gGa>gAa	p.G3206E	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3206	Stalk (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)					CTTTTCCAATCCAGTATTCAT	0.418000									Kartagener syndrome					28			65		0	0	1	0	0
AQP2	359	broad.mit.edu	37	12	50344844	50344844	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:50344844G>A	uc001rvn.3	+	0	321	c.231G>A	c.(229-231)gtG>gtA	p.V77V		NM_000486	NP_000477	P41181	AQP2_HUMAN	Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA.	77					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						CCTGCCTGGTGGGCTGCCACG	0.657000														22			22		0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	5605784	5605784	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrY:5605784G>A	uc004fqo.3	+	4	4558	c.3824G>A	c.(3823-3825)tGg>tAg	p.W1275*	PCDH11Y_uc022ciy.1_Non-coding_Transcript	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	1275					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAGCAAGGTTGGGTGCAAGGT	0.493000														102			67		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169555381	169555381	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:169555381G>A	uc003fgb.3	+	4	1645	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	549										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AGGAAAGAAGGATGTAAAAGG	0.358000														4			14		0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11400794	11400794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:11400794G>A	uc003gmq.3	-	1	1159	c.836C>T	c.(835-837)cCc>cTc	p.P279L	HS3ST1_uc021xmg.1_Missense_Mutation_p.P279L	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	279						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GAGTAGTTTGGGATCGACTTG	0.483000														9			38		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169701995	169701995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:169701995G>A	uc001ggm.4	-	2	339	c.182C>T	c.(181-183)tCc>tTc	p.S61F	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	61	C-type lectin.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GCTCAATATGGAGTTTAGGTA	0.423000														63			51		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14880876	14880876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:14880876C>T	uc003ssz.3	-	0	200	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	DGKB_uc011jxt.2_Missense_Mutation_p.E5K|DGKB_uc003sta.3_Missense_Mutation_p.E5K|DGKB_uc011jxu.2_Missense_Mutation_p.E5K|DGKB_uc011jxv.1_Missense_Mutation_p.E5K	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	5					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GCCCATTTTTCCTGGTTTGTC	0.403000														11			31		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8175759	8175759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:8175759C>T	uc002mjf.3	-	32	4320	c.4303G>A	c.(4303-4305)Gaa>Aaa	p.E1435K		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1435	EGF-like 22; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.Y1434D(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGGTCCAGTTCGTAGCCACCA	0.607000														43			60		0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111892132	111892132	+	Missense_Mutation	SNP	C	T	T	rs139595633	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:111892132C>T	uc001kyu.3	+	13	1958	c.1802C>T	c.(1801-1803)cCg>cTg	p.P601L	ADD3_uc001kyt.4_Missense_Mutation_p.P601L|ADD3_uc001kys.4_Intron|ADD3_uc001kyv.3_Missense_Mutation_p.P601L|ADD3_uc001kyw.3_Intron|ADD3_uc001kyx.3_Missense_Mutation_p.P174L	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	Homo sapiens adducin 3 (gamma) (ADD3), transcript variant 1, mRNA.	601						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	p.P601P(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ACTCAGTCACCGCAAAATGTC	0.398000														17			23		0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100395841	100395841	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:100395841C>T	uc003pqh.1	-	2	504	c.189G>A	c.(187-189)agG>agA	p.R63R	MCHR2_uc003pqi.1_Silent_p.R63R	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	63			R -> K (no changes in receptor binding or functional signaling).			integral to membrane|plasma membrane	G-protein coupled receptor activity			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)		CTGTTTTTTTCCTGGATCTGA	0.403000														19			6		0	0	1	0	0
F2R	2149	broad.mit.edu	37	5	76029048	76029048	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:76029048T>A	uc003ken.4	+	1	1263	c.998T>A	c.(997-999)cTg>cAg	p.L333Q		NM_001992	NP_001983	P25116	PAR1_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor (F2R), mRNA.	333					STAT protein import into nucleus|activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|tyrosine phosphorylation of STAT protein	Golgi apparatus|caveola|extracellular region|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	AACGTCCTCCTGATTGCGCAT	0.522000														37			22		0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53159945	53159945	+	Silent	SNP	G	A	A	rs148510042		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:53159945G>A	uc003dgj.3	-	1	183	c.129C>T	c.(127-129)atC>atT	p.I43I		NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	Homo sapiens RFT1 homolog (S. cerevisiae) (RFT1), mRNA.	43					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity	p.I43I(2)		NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CTACGCCAACGATTTCCTTTG	0.408000														20			17		0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75116727	75116727	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:75116727G>A	uc002ayt.1	+	12	1361	c.1359G>A	c.(1357-1359)caG>caA	p.Q453Q	LMAN1L_uc010bke.1_Silent_p.Q441Q|CPLX3_uc002ayu.1_5'Flank	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	453						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CACCTGGCCAGCCCCCAAGGG	0.597000														87			72		0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46713055	46713055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:46713055C>T	uc003cqa.2	-	24	2897	c.2704G>A	c.(2704-2706)Gag>Aag	p.E902K	ALS2CL_uc003cpx.2_Missense_Mutation_p.E249K|ALS2CL_uc003cpy.2_Non-coding_Transcript|ALS2CL_uc003cpz.2_Missense_Mutation_p.E417K|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Missense_Mutation_p.E902K	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	902	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGGTGGATCTCGGCTCCCAGG	0.617000														48			11		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134911659	134911659	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:134911659C>T	uc003eqt.3	+	10	2499	c.2124C>T	c.(2122-2124)ttC>ttT	p.F708F	EPHB1_uc003equ.3_Silent_p.F269F	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	708	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.S707T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGGATTCTTTCCTCAGGGTAA	0.507000														20			12		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109629451	109629451	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:109629451C>T	uc001tob.3	+	13	2297	c.2178C>T	c.(2176-2178)atC>atT	p.I726I	ACACB_uc001toc.3_Silent_p.I726I	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	726	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AACTGTCCATCCGAGGCGACT	0.488000														105			18		0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70149251	70149251	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:70149251C>T	uc001svp.3	+	1	558	c.111C>T	c.(109-111)gaC>gaT	p.D37D	RAB3IP_uc021rao.1_Silent_p.D21D|RAB3IP_uc001svm.3_Silent_p.D21D|RAB3IP_uc001svn.3_Silent_p.D21D|RAB3IP_uc001svo.3_Non-coding_Transcript|RAB3IP_uc001svq.3_Silent_p.D37D|RAB3IP_uc001svs.3_Non-coding_Transcript	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.	37					Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CTTCTCCGGACCTTCTTGGTG	0.453000														63			29		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49444278	49444278	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49444278G>A	uc001rta.4	-	10	3093	c.3093C>T	c.(3091-3093)tcC>tcT	p.S1031S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1031	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						GGGGAACCAGGGAATGCTGAA	0.612000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				68			12		0	0	1	0	0
TUBG2	27175	broad.mit.edu	37	17	40818499	40818499	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:40818499C>T	uc010wgr.2	+	9	1411	c.1155C>T	c.(1153-1155)tcC>tcT	p.S385S	TUBG2_uc002iap.3_Silent_p.S232S	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	Homo sapiens tubulin, gamma 2 (TUBG2), mRNA.	385					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		CCAGCATCTCCTCGGTGAGTC	0.582000														61			55		0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131339676	131339676	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:131339676C>T	uc004bvl.4	+	7	1118	c.976C>T	c.(976-978)Cct>Tct	p.P326S	SPTAN1_uc011mbg.2_Missense_Mutation_p.P326S|SPTAN1_uc011mbh.2_Missense_Mutation_p.P338S|SPTAN1_uc004bvm.4_Missense_Mutation_p.P326S|SPTAN1_uc004bvn.4_Missense_Mutation_p.P326S	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	326					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ACAGTCCCACCCTCTGAGTGC	0.512000														7			48		0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201184907	201184907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:201184907G>A	uc001gwc.3	+	14	9366	c.9236G>A	c.(9235-9237)aGc>aAc	p.S3079N	IGFN1_uc001gwb.3_Intron	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGCCAGTACAGCGTGACACTG	0.642000														17			20		0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89082383	89082383	+	RNA	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:89082383A>G	uc010fhf.3	+	3		c.411A>G			ANKRD36BP2_uc010fhg.3_Non-coding_Transcript|ANKRD36BP2_uc010fhh.3_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 36B pseudogene 2 (ANKRD36BP2), non-coding RNA.																		GCAAGTGACGAGAAAGATTCT	0.338000														34			5		0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167921597	167921597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:167921597C>T	uc011cjq.1	-	2	346	c.289G>A	c.(289-291)Gat>Aat	p.D97N	SPOCK3_uc021xuf.1_Missense_Mutation_p.D88N|SPOCK3_uc011cjr.1_Intron|SPOCK3_uc003iri.1_Missense_Mutation_p.D88N|SPOCK3_uc011cjs.1_Missense_Mutation_p.D37N|SPOCK3_uc003irj.1_Missense_Mutation_p.D85N|SPOCK3_uc011cjt.1_5'UTR|SPOCK3_uc011cjp.2_Missense_Mutation_p.D85N|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.4_Missense_Mutation_p.D85N|SPOCK3_uc011cjw.1_Non-coding_Transcript	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	88					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		AAGCATGGATCCTTAGCTGGA	0.368000														28			47		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138601855	138601855	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:138601855G>A	uc011kql.2	-	1	2566	c.2517C>T	c.(2515-2517)atC>atT	p.I839I	KIAA1549_uc011kqj.2_Silent_p.I839I	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	839						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACGCGTCAGTGATCAACACCG	0.562000			O	BRAF	pilocytic astrocytoma									15			16		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531107	50531107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:50531107C>T	uc021pqb.1	+	0	517	c.517C>T	c.(517-519)Cct>Tct	p.P173S	C10orf71_uc021pqa.1_Missense_Mutation_p.P172S|C10orf71_uc021pqc.1_Missense_Mutation_p.P173S	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	173										endometrium(1)	1						TCTGAAAAATCCTCCCAAATT	0.502000														27			7		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126369770	126369770	+	Silent	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:126369770A>G	uc003ifj.4	+	8	7599	c.7599A>G	c.(7597-7599)gaA>gaG	p.E2533E	FAT4_uc011cgp.2_Silent_p.E831E|FAT4_uc003ifi.1_Silent_p.E11E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2533	Cadherin 24.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAGCTTCAGAAGTGACATTTT	0.428000														28			45		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124395546	124395546	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:124395546C>T	uc001lgk.1	+	49	6307	c.6201C>T	c.(6199-6201)ttC>ttT	p.F2067F	DMBT1_uc001lgl.1_Silent_p.F2057F|DMBT1_uc001lgm.1_Silent_p.F1439F|DMBT1_uc021qaf.1_Silent_p.F2067F|DMBT1_uc021qag.1_Silent_p.F2057F|DMBT1_uc021qah.1_Silent_p.F1439F|DMBT1_uc009xzz.1_Silent_p.F2066F|DMBT1_uc010qtx.1_Silent_p.F787F|DMBT1_uc009yab.1_Silent_p.F770F|DMBT1_uc009yac.1_Silent_p.F361F	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2067	CUB 2.				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)				TTGAAGTTTTCGATGGCCCCT	0.502000														36			13		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999402	46999402	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:46999402G>A	uc001jec.3	+	2	657	c.522G>A	c.(520-522)agG>agA	p.R174R	GPRIN2_uc021ppt.1_Silent_p.R174R	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	174										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GCCTGGAAAGGGACCTGGCTC	0.632000														45			7		0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142880788	142880788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142880788G>A	uc011ksw.2	+	0	277	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	93					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					CATGATGTTAGAAATTACCAT	0.378000														72			55		0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63884760	63884760	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:63884760G>A	uc021qks.1	+	0	1021	c.1021G>A	c.(1021-1023)Gac>Aac	p.D341N	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.D341N	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	313	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.R340W(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						GTGGCTGCGGGACTGGGTGAA	0.657000														39			27		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201060904	201060904	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:201060904C>T	uc001gvv.3	-	4	785	c.558G>A	c.(556-558)ctG>ctA	p.L186L		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	186					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGATGGAGTTCAGGACCACCT	0.572000														12			18		0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57128577	57128577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:57128577C>T	uc002iwy.4	-	13	1756	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	TRIM37_uc002iwz.4_Missense_Mutation_p.E438K|TRIM37_uc002ixa.4_Missense_Mutation_p.E316K|TRIM37_uc010woc.2_Missense_Mutation_p.E404K	NM_001005207	NP_056109	O94972	TRI37_HUMAN	Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA.	438						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTCTTACCTCTTTAAGGTTG	0.308000									Mulibrey Nanism					25			14		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141799449	141799449	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141799449T>A	uc003vwy.3	+	43	5152	c.5098T>A	c.(5098-5100)Ttg>Atg	p.L1700M		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1700	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTGGAAGACCTTGCCAGCCCC	0.527000														31			41		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285890	152285890	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152285890C>T	uc001ezu.1	-	2	1508	c.1472G>A	c.(1471-1473)gGa>gAa	p.G491E	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	491	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTTGTCTTCCTCCAGTGCT	0.607000									Ichthyosis					220			153		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16822595	16822595	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:16822595G>A	uc010rcu.1	-	16	2350	c.2335C>T	c.(2335-2337)Ctg>Ttg	p.L779L	PLEKHA7_uc001mmo.3_Silent_p.L779L|PLEKHA7_uc010rcv.2_Silent_p.L353L|PLEKHA7_uc001mmn.3_Silent_p.L487L	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	779					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCCAACTTCAGGTATTCGTTC	0.498000														145			45		0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213878550	213878550	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:213878550C>T	uc002vem.3	-	6	990	c.821G>A	c.(820-822)gGa>gAa	p.G274E	IKZF2_uc010fuu.3_Missense_Mutation_p.G129E|IKZF2_uc002vej.3_Missense_Mutation_p.G221E|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Intron|IKZF2_uc002vel.3_Missense_Mutation_p.G195E|IKZF2_uc010fuw.3_Missense_Mutation_p.G48E|IKZF2_uc010fux.3_Missense_Mutation_p.G48E|IKZF2_uc010fuy.3_Missense_Mutation_p.G202E|IKZF2_uc002ven.3_Missense_Mutation_p.G248E|IKZF2_uc002vei.3_Missense_Mutation_p.G52E	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TTTACGTTTTCCCATATTCCC	0.403000														38			20		0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5411319	5411319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5411319G>A	uc010qzc.2	+	0	713	c.691G>A	c.(691-693)Gga>Aga	p.G231R	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	231						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGTCCTATGGACTCATCCT	0.532000														58			20		0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52344246	52344246	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:52344246C>T	uc001ctc.4	-	0	364	c.42G>A	c.(40-42)cgG>cgA	p.R14R	NRD1_uc001cte.3_5'Flank|NRD1_uc001ctd.4_Silent_p.R14R|NRD1_uc001ctf.2_Silent_p.R14R|NRD1_uc010ong.1_Intron|NRD1_uc009vzc.1_5'Flank	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	14					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ACAACTTCCTCCGGGTGGCAC	0.632000														0			13		0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5345040	5345040	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5345040G>A	uc001mao.1	-	0	543	c.488C>T	c.(487-489)tCa>tTa	p.S163L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATATGAAAATGAAAAAAGACG	0.398000														27			23		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141796141	141796141	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141796141G>A	uc003vwy.3	+	41	4984	c.4930G>A	c.(4930-4932)Gac>Aac	p.D1644N		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1644	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTTTGTGTCAGACCAGGTGAC	0.577000														11			17		0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119121009	119121009	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:119121009C>T	uc003ecj.4	+	9	1942	c.1410C>T	c.(1408-1410)ctC>ctT	p.L470L		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	470					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CCAGCAGCCTCTTCCAGATGG	0.582000														24			52		0	0	1	0	0
CHP2	63928	broad.mit.edu	37	16	23767427	23767427	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:23767427C>T	uc002dmb.1	+	3	688	c.265C>T	c.(265-267)Cat>Tat	p.H89Y		NM_022097	NP_071380	O43745	CHP2_HUMAN	Homo sapiens calcineurin B homologous protein 2 (CHP2), mRNA.	89	EF-hand 2.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		GGTCTTGGCTCATTTTCGCCC	0.522000														17			22		0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139113660	139113660	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:139113660G>A	uc010nbi.2	-	5	841	c.803C>T	c.(802-804)tCg>tTg	p.S268L		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 2 (QSOX2), mRNA.	268					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CAATCCATGCGACCCATTTGG	0.557000														4			35		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30706440	30706440	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:30706440G>A	uc003xil.3	-	0	94	c.94C>T	c.(94-96)Cct>Tct	p.P32S	TEX15_uc011lbc.2_Missense_Mutation_p.P419S	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	32										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTGTGAAGAGGAAAAGAAGCA	0.383000														55			33		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167163561	167163562	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:167163561_167163562CC>TT	uc010fpl.3	-	2	622_623	c.281_282GG>AA	c.(280-282)ggg>gAA	p.G94E	SCN9A_uc002udr.1_5'Flank|SCN9A_uc002uds.1_5'Flank|SCN9A_uc002udt.1_5'Flank	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	94						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AGATTGTTTTCCCTTTGTTCAA	0.327000														10			6		0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36064984	36064984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:36064984G>A	uc002hok.4	-	5	1500	c.1279C>T	c.(1279-1281)Ccc>Tcc	p.P427S	HNF1B_uc021tvu.1_Missense_Mutation_p.P197S|HNF1B_uc010wdi.2_Missense_Mutation_p.P401S|HNF1B_uc021tvv.1_Missense_Mutation_p.P427S|HNF1B_uc021tvw.1_Missense_Mutation_p.P401S	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	427					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.N426T(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GATTGCTGGGGATTATGGTGG	0.483000														324			189		0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115102181	115102181	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:115102181G>A	uc001ppi.4	-	3	583	c.454C>T	c.(454-456)Cag>Tag	p.Q152*	CADM1_uc001ppf.4_Nonsense_Mutation_p.Q152*|CADM1_uc001ppk.4_Nonsense_Mutation_p.Q152*|CADM1_uc001ppj.4_Nonsense_Mutation_p.Q152*|CADM1_uc001ppl.3_Nonsense_Mutation_p.Q152*	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.	152	Ig-like C2-type 1.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GTGTCTTTCTGGATATCGATC	0.428000														7			38		0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72943188	72943188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:72943188G>A	uc010wrr.2	+	5	1238	c.1238G>A	c.(1237-1239)aGc>aAc	p.S413N	OTOP3_uc010wrq.2_Missense_Mutation_p.S395N	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	413						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CCTACCCGCAGCCTGGATGTG	0.632000														62			14		0	0	1	0	0
TMEM213	155006	broad.mit.edu	37	7	138487709	138487709	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:138487709C>T	uc010lna.3	+	2	330	c.219C>T	c.(217-219)atC>atT	p.I73I	TMEM213_uc010lnb.3_Silent_p.I72I	NM_001085429	NP_001078898	A2RRL7	TM213_HUMAN	Homo sapiens transmembrane protein 213 (TMEM213), mRNA.	73						integral to membrane		p.I73I(3)		breast(1)|endometrium(3)|kidney(1)|lung(1)	6						ACGGCTGGATCGCGGCAGCTG	0.607000														23			9		0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110482075	110482075	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:110482075C>T	uc001pkz.1	-	7	951	c.666G>A	c.(664-666)gcG>gcA	p.A222A	ARHGAP20_uc001pky.1_Silent_p.A199A|ARHGAP20_uc009yyb.1_Silent_p.A186A|ARHGAP20_uc001pla.1_Silent_p.A186A	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	222	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TAACTTCATTCGCTGTATCTG	0.229000														10			6		0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10258730	10258730	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:10258730C>T	uc003bve.1	+	6	977	c.901C>T	c.(901-903)Cag>Tag	p.Q301*		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	301	Protein kinase.				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|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|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	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						ACTGCAGGGTCAGGTAAGGGA	0.547000														27			53		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215890473	215890473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:215890473C>T	uc002vew.3	-	10	1431	c.1211G>A	c.(1210-1212)cGa>cAa	p.R404Q	ABCA12_uc002vev.3_Missense_Mutation_p.R86Q|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	404					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.R404Q(2)|p.R404*(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTTTTAAATCGTATTGTGGA	0.343000														25			13		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24342868	24342868	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:24342868C>T	uc003xeb.3	+	9	1067	c.954C>T	c.(952-954)atC>atT	p.I318I	ADAM7_uc003xec.3_Silent_p.I90I	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	318	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CCACCAGTATCATTAAGGTGG	0.363000														55			5		0	0	1	0	0
SLC25A51P1	442229	broad.mit.edu	37	6	66498844	66498844	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:66498844C>T	uc011dxw.2	+	0		c.1073C>T								Homo sapiens mitochondrial carrier triple repeat 3 pseudogene (MCART3P), non-coding RNA.																		GGTGCCCATTCTTTTCCAGAA	0.448000														36			15		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70895992	70895992	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:70895992G>A	uc002ezr.3	-	68	11884	c.11733C>T	c.(11731-11733)tcC>tcT	p.S3911S	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3912										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGTCCAACGGGGAGAATTTTA	0.537000														3			8		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181727217	181727217	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:181727217C>T	uc009wxt.3	+	30	4659	c.4464C>T	c.(4462-4464)atC>atT	p.I1488I	CACNA1E_uc001gow.3_Silent_p.I1488I|CACNA1E_uc009wxs.3_Silent_p.I1469I|CACNA1E_uc001gox.1_Silent_p.I714I	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1488					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGGCCATGATCGCCTTGAATA	0.557000														69			20		0	0	1	0	0
SLAMF1	6504	broad.mit.edu	37	1	160607113	160607113	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:160607113G>A	uc001fwl.4	-	1	629	c.283C>T	c.(283-285)Cgc>Tgc	p.R95C	SLAMF1_uc010pjk.2_Non-coding_Transcript|SLAMF1_uc010pjl.2_Non-coding_Transcript|SLAMF1_uc010pjm.2_Non-coding_Transcript|SLAMF1_uc001fwm.3_Missense_Mutation_p.R95C	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA.	95					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AACTTGTAGCGATCTCCTAGA	0.468000														61			58		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169787182	169787182	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:169787182C>T	uc002ueo.1	-	24	3530	c.3404G>A	c.(3403-3405)gGg>gAg	p.G1135E	ABCB11_uc010zda.1_Missense_Mutation_p.G577E|ABCB11_uc010zdb.1_Missense_Mutation_p.G611E	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1135	ABC transporter 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TACCACCTTCCCTTGATCAGG	0.473000														18			11		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110827619	110827619	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:110827619C>T	uc001vqw.4	-	36	3266	c.3144G>A	c.(3142-3144)gaG>gaA	p.E1048E		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1048	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGCCCTTTCTCTCCTTTTG	0.567000														43			15		0	0	1	0	0
RBM45	129831	broad.mit.edu	37	2	178977483	178977483	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:178977483C>T	uc002ulv.3	+	0	302	c.210C>T	c.(208-210)ttC>ttT	p.F70F		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	Homo sapiens RNA binding motif protein 45 (RBM45), mRNA.	70	RRM 1.				cell differentiation|nervous system development	cytoplasm|nucleus	RNA binding|nucleotide binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			GCATTGCTTTCGTCAAGTTCG	0.627000														35			19		0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71155081	71155081	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:71155081C>T	uc001oqk.3	-	3	529	c.279G>A	c.(277-279)acG>acA	p.T93T	DHCR7_uc001oql.3_Silent_p.T93T	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	93			T -> M (in SLOS).		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)	CGGCTTTCCTCGTTATAGGTG	0.627000									Smith-Lemli-Opitz syndrome					25			8		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38884131	38884131	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:38884131G>A	uc003jln.2	+	4	1023	c.621G>A	c.(619-621)agG>agA	p.R207R	OSMR_uc003jlm.2_Silent_p.R207R	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	207					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CTTTCATTAGGAATAAAGGGA	0.368000														24			57		0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42371884	42371884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:42371884C>T	uc001zox.3	-	12	1263	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	390	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GCCAGGTGCTCCCGGGCGTAT	0.652000														35			28		0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35800143	35800143	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:35800143G>A	uc003zyd.3	+	3	1112	c.1112G>A	c.(1111-1113)cGa>cAa	p.R371Q	NPR2_uc010mlb.3_Missense_Mutation_p.R371Q	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	371					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ATGCAGGGACGAAGATATCAC	0.493000														46			38		0	0	1	0	0
HBD	3045	broad.mit.edu	37	11	5255642	5255642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5255642C>T	uc001maf.1	-	0	217	c.22G>A	c.(22-24)Gag>Aag	p.E8K		NM_000519	NP_000510	P02042	HBD_HUMAN	Homo sapiens hemoglobin, delta (HBD), mRNA.	8					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGTCTTCTCCTCAGGAGTC	0.502000														65			18		0	0	1	0	0
C15orf57	90416	broad.mit.edu	37	15	40855196	40855196	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:40855196C>T	uc001zma.1	-	1	319	c.46G>A	c.(46-48)Gct>Act	p.A16T	C15orf57_uc001zly.3_Missense_Mutation_p.A5T|C15orf57_uc001zmc.1_Missense_Mutation_p.A7T|C15orf57_uc001zmb.1_Missense_Mutation_p.A7T|C15orf57_uc010bbr.3_Missense_Mutation_p.A5T	NM_001080791	NP_443081	Q9BV29	CO057_HUMAN	Homo sapiens chromosome 15 open reading frame 57 (C15orf57), transcript variant 3, mRNA.	7								p.A7T(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						GTAGAGTCAGCGCTCTCAAAC	0.438000														142			44		0	0	1	0	0
BIRC3	330	broad.mit.edu	37	11	102207793	102207793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:102207793G>A	uc001pgx.3	+	8	4570	c.1775G>A	c.(1774-1776)aGg>aAg	p.R592K		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Homo sapiens baculoviral IAP repeat containing 3 (BIRC3), transcript variant 2, mRNA.	592					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		CCTATTTGTAGGAGTACAATC	0.323000			T	MALT1	MALT									11			8		0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61048507	61048507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:61048507G>A	uc001nra.3	-	7	1267	c.988C>T	c.(988-990)Cct>Tct	p.P330S	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	330						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGGCAGAAGGGGAGGATGTG	0.682000														9			8		0	0	1	0	0
MOG	4340	broad.mit.edu	37	6	29638061	29638061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29638061C>T	uc003nnf.3	+	5	825	c.596C>T	c.(595-597)cCc>cTc	p.P199L	MOG_uc003nmy.2_Missense_Mutation_p.P199L|MOG_uc003nna.3_Missense_Mutation_p.P83L|MOG_uc011dlt.2_Missense_Mutation_p.P129L|MOG_uc011dlv.2_Intron|MOG_uc011dlu.2_Intron|MOG_uc003nne.3_Missense_Mutation_p.P199L|MOG_uc003nng.3_Intron|MOG_uc003nni.3_Intron|MOG_uc003nnh.3_Intron|MOG_uc003nnj.3_Intron|MOG_uc003nnk.3_Intron	NM_206809	NP_996532	Q16653	MOG_HUMAN	Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA.	199					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						AATTCAGATCCCCACTTTCTG	0.493000														121			31		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216373131	216373131	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:216373131C>T	uc001hku.1	-	16	4036	c.3649G>A	c.(3649-3651)Gat>Aat	p.D1217N	USH2A_uc001hkv.3_Missense_Mutation_p.D1217N	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1217	Fibronectin type-III 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.D1217N(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAGAAAAATCGTACTTGGCA	0.517000										HNSCC(13;0.011)				29			55		0	0	1	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186948542	186948542	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:186948542C>T	uc001gsc.3	+	16	2261	c.2056C>T	c.(2056-2058)Cca>Tca	p.P686S	PLA2G4A_uc010pos.2_Missense_Mutation_p.P626S	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	686	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TTTTCAATATCCAAATCAAGC	0.353000														52			32		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33144235	33144235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:33144235C>T	uc003ocx.1	-	26	2372	c.2144G>A	c.(2143-2145)gGa>gAa	p.G715E	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G629E|COL11A2_uc003ocz.1_Missense_Mutation_p.G608E	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	715	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCCTGGGTATCCTAGAGGTCC	0.567000														37			15		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952058	119952058	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:119952058C>G	uc010inb.3	+	3	2324	c.2128C>G	c.(2128-2130)Ctc>Gtc	p.L710V	SYNPO2_uc010ina.3_Missense_Mutation_p.L710V|SYNPO2_uc003icm.4_Missense_Mutation_p.L710V|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.L638V|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	710						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAATCCTGAACTCTTGTCACT	0.493000														36			22		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169578921	169578921	+	Missense_Mutation	SNP	G	A	A	rs3917742	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:169578921G>A	uc001ggi.4	-	7	1219	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	SELP_uc001ggh.3_Missense_Mutation_p.S220L|SELP_uc009wvr.3_Missense_Mutation_p.S385L	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	385	Sushi 4.		S -> L (in dbSNP:rs3917742).		platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CGGCTCACACGAAATAGCTAA	0.478000														24			22		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42000019	42000019	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:42000019C>T	uc010ucy.2	+	5	2463	c.2282C>T	c.(2281-2283)cCt>cTt	p.P761L	MGA_uc001zog.1_Missense_Mutation_p.P761L|MGA_uc010ucz.2_Missense_Mutation_p.P761L	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	761						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ACTAGCTTTCCTTTTTGGAAC	0.378000														24			19		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155753858	155753858	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155753858G>A	uc001flz.2	-	13	1908	c.1811C>T	c.(1810-1812)tCc>tTc	p.S604F	GON4L_uc021paz.1_Intron|GON4L_uc001fly.1_Missense_Mutation_p.S604F|GON4L_uc009wrh.1_Missense_Mutation_p.S604F|GON4L_uc001fma.1_Missense_Mutation_p.S604F|GON4L_uc001fmc.3_Missense_Mutation_p.S604F|GON4L_uc001fmd.4_Missense_Mutation_p.S604F|GON4L_uc009wri.3_Missense_Mutation_p.S190F|GON4L_uc009wrj.2_Missense_Mutation_p.S119F|GON4L_uc001fme.3_Missense_Mutation_p.S432F	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	604					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTCCATGTTGGAGAATCCCAT	0.507000														40			56		0	0	1	0	0
NOMO3	408050	broad.mit.edu	37	16	16349603	16349603	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:16349603C>T	uc002dep.3	+	9	1125	c.990C>T	c.(988-990)tcC>tcT	p.S330S	NOMO3_uc010bvp.2_Silent_p.S163S|NOMO3_uc002deq.3_Silent_p.S330S	NM_001004067	NP_001004067	P69849	NOMO3_HUMAN	Homo sapiens NODAL modulator 3 (NOMO3), mRNA.	330						integral to membrane	carbohydrate binding|carboxypeptidase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	8				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TGGGATTCTCCGTCACCGGGA	0.557000														17			30		0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24936055	24936055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:24936055C>T	uc001mqs.3	+	6	767	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C	LUZP2_uc009yif.3_Missense_Mutation_p.R79C|LUZP2_uc009yig.3_Intron	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	165	Leucine-zipper.					extracellular region		p.R165H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GAAGGAGCTTCGTTATGGGAA	0.318000														20			19		0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101062675	101062676	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:101062675_101062676GG>AA	uc003dut.3	-	13	2071_2072	c.1960_1961CC>TT	c.(1960-1962)ccg>TTg	p.P654L	SENP7_uc003duu.3_Missense_Mutation_p.P589L|SENP7_uc003duv.3_Missense_Mutation_p.P621L|SENP7_uc003duw.3_Missense_Mutation_p.P588L|SENP7_uc003dux.3_Missense_Mutation_p.P490L	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	654					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCAAGACAACGGGTAAGAAAGC	0.356000														31			8		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581377	7581377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:7581377G>A	uc003mxp.1	+	22	5233	c.4954G>A	c.(4954-4956)Gaa>Aaa	p.E1652K	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1652	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGGACCCAGGAAGAGCTGAG	0.557000														135			26		0	0	1	0	0
AQP2	359	broad.mit.edu	37	12	50344626	50344626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:50344626C>T	uc001rvn.3	+	0	103	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C		NM_000486	NP_000477	P41181	AQP2_HUMAN	Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA.	5					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GTGGGAGCTCCGCTCCATAGC	0.632000														39			35		0	0	1	0	0
CHORDC1	26973	broad.mit.edu	37	11	89944431	89944431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:89944431C>T	uc001pdg.2	-	4	795	c.385G>A	c.(385-387)Gca>Aca	p.A129T	CHORDC1_uc009yvz.2_Missense_Mutation_p.A110T	NM_012124	NP_036256	Q9UHD1	CHRD1_HUMAN	Homo sapiens cysteine and histidine-rich domain (CHORD) containing 1 (CHORDC1), transcript variant 1, mRNA.	129	Interaction with HSP90AA1 and HSP90AB1 (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				TTATCAAGTGCTTGTTTTAGG	0.289000														70			40		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23886827	23886827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:23886827G>A	uc001wjx.3	-	30	4344	c.4238C>T	c.(4237-4239)tCg>tTg	p.S1413L		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1413					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTTCTCCAGCGAGGAGCACTT	0.617000														47			37		0	0	1	0	0
C14orf129	51527	broad.mit.edu	37	14	96848752	96848752	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:96848752C>T	uc001yfj.4	+	2	313	c.168C>T	c.(166-168)agC>agT	p.S56S	C14orf129_uc001yfl.3_Silent_p.S56S|C14orf129_uc021sbk.1_Silent_p.S56S	NM_016472	NP_057556	Q9P0R6	GSKIP_HUMAN	Homo sapiens chromosome 14 open reading frame 129 (C14orf129), mRNA.	56						cytoplasm	protein binding			large_intestine(1)|lung(1)|prostate(2)	4		Melanoma(154;0.226)		Epithelial(152;0.109)|COAD - Colon adenocarcinoma(157;0.205)		TCTCGAAAAGCCTGCGGTGTG	0.433000														58			13		0	0	1	0	0
FBF1	85302	broad.mit.edu	37	17	73923614	73923614	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:73923614C>T	uc002jqc.3	-	8	630	c.356_splice	c.e8-1	p.G119_splice	FBF1_uc002jqa.1_Splice_Site|FBF1_uc010wsp.2_Splice_Site_p.G109_splice|FBF1_uc002jqd.1_Splice_Site_p.G119_splice	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.	119										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						ATGGCACCCCCTGCAGGAAGC	0.572000														9			5		0	0	1	0	0
MATN3	4148	broad.mit.edu	37	2	20194152	20194152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:20194152C>T	uc002rdl.3	-	6	1376	c.1313G>A	c.(1312-1314)aGa>aAa	p.R438K	MATN3_uc010exu.1_Missense_Mutation_p.R396K	NM_002381	NP_002372	O15232	MATN3_HUMAN	Homo sapiens matrilin 3 (MATN3), mRNA.	438					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAACAAGTCTTCGTGCTTC	0.403000														20			4		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90406197	90406197	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:90406197G>A	uc003pnn.1	-	59	9381	c.9265C>T	c.(9265-9267)Ccc>Tcc	p.P3089S		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	3089					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GAAAGAATGGGGAGGCCACTC	0.517000														26			16		0	0	1	0	0
ZNF140	7699	broad.mit.edu	37	12	133683172	133683172	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:133683172C>T	uc001ulo.3	+	4	1979	c.1309C>T	c.(1309-1311)Ctt>Ttt	p.L437F	ZNF140_uc001ulp.3_Missense_Mutation_p.L334F|ZNF140_uc010tbu.2_Missense_Mutation_p.L334F	NM_003440	NP_003431	P52738	ZN140_HUMAN	Homo sapiens zinc finger protein 140 (ZNF140), mRNA.	437						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GACACACACTCTTGACAACCC	0.378000														32			27		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1267073	1267073	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:1267073G>T	uc001lta.3	+	30	9022	c.8963G>T	c.(8962-8964)gGg>gTg	p.G2988V		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	2988	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	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)		TCCACTCCAGGGACGACCTGG	0.632000														109			42		2.58029e-29	2.61497e-29	1	1	0
SMAD9	4093	broad.mit.edu	37	13	37446810	37446810	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:37446810G>A	uc001uvw.3	-	2	998	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S	SMAD9_uc001uvx.3_Missense_Mutation_p.P219S|SMAD9_uc010tep.2_Missense_Mutation_p.P49S	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA.	219					BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TGTTGATAGGGACTCTCTGGC	0.532000														25			12		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140772572	140772573	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:140772572_140772573CC>TT	uc004cog.3	+	0	332_333	c.187_188CC>TT	c.(187-189)ccg>TTg	p.P63L	AK128414_uc004cof.1_Intron|CACNA1B_uc022bqn.1_Missense_Mutation_p.P63L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	63					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CAACCCCATCCCGGTCAAGCAG	0.658000														20			7		0	0	1	0	0
KCNE1	3753	broad.mit.edu	37	21	35821767	35821767	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:35821767A>G	uc021wit.1	-	0	166	c.166T>C	c.(166-168)Ttc>Ctc	p.F56L	KCNE1_uc010gmp.3_Missense_Mutation_p.F56L|KCNE1_uc002ytz.3_Missense_Mutation_p.F56L|KCNE1_uc010gmq.3_Missense_Mutation_p.F56L|KCNE1_uc010gmr.3_Missense_Mutation_p.F56L|KCNE1_uc010gms.3_Missense_Mutation_p.F56L|KCNE1_uc002yua.3_Non-coding_Transcript	NM_001127670	NP_001121142	P15382	KCNE1_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 1 (KCNE1), transcript variant 1, mRNA.	56					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	AGGGTGAAGAAGCCGAAGAAT	0.607000														294			193		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169697229	169697230	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:169697229_169697230CC>TT	uc001ggm.4	-	7	1405_1406	c.1248_1249GG>AA	c.(1246-1251)ggggag>ggAAag	p.E417K	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	417	Sushi 4.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TTGTCCCACTCCCCTGTGGGGC	0.455000														142			42		0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58489886	58489886	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58489886G>A	uc002qqw.3	-	6	2780	c.2162C>T	c.(2161-2163)tCa>tTa	p.S721L	ZNF606_uc010yhp.2_Missense_Mutation_p.S631L	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	721					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AATAAGGGATGAACTCTCATT	0.368000														46			25		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77247083	77247083	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:77247083T>C	uc003hkb.4	-	21	3237	c.3084A>G	c.(3082-3084)tcA>tcG	p.S1028S	U7_uc021xpf.1_5'Flank	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	1028	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AACCTTCAACTGAACTAGTTA	0.383000														85			105		0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85341193	85341193	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:85341193C>T	uc002bld.3	+	5	2829	c.2493C>T	c.(2491-2493)ttC>ttT	p.F831F	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	831					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AATGTGCATTCTGCCCCATGG	0.597000														46			5		0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113400489	113400489	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:113400489C>T	uc001tug.3	+	8	1953	c.1866C>T	c.(1864-1866)gcC>gcT	p.A622A		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	622	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AAGGACCAGCCCCTGCCTCTC	0.562000														114			23		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61944500	61944500	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:61944500T>C	uc011aau.2	+	16	2208	c.2108T>C	c.(2107-2109)gTc>gCc	p.V703A	COL20A1_uc011aav.2_Missense_Mutation_p.V524A	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	703	Fibronectin type-III 5.				cell adhesion	collagen|extracellular space	structural molecule activity	p.V703I(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGCACGGCCGTCCTGCCTGGC	0.672000														24			13		0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433728	72433728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:72433728C>T	uc004ebi.3	-	0	983	c.601G>A	c.(601-603)Gat>Aat	p.D201N		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	201	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex		p.D200E(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCATAACCATCGTCCTCATCC	0.423000														9			33		0	0	1	0	0
YIF1A	10897	broad.mit.edu	37	11	66052985	66052985	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:66052985G>A	uc001ohk.4	-	5	690	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L		NM_020470	NP_065203	O95070	YIF1A_HUMAN	Homo sapiens Yip1 interacting factor homolog A (S. cerevisiae) (YIF1A), mRNA.	170					protein transport|vesicle-mediated transport	ER-Golgi intermediate compartment|Golgi membrane|centrosome|endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						CTTGCACACAGGCCCAGCACC	0.652000														41			10		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12666631	12666631	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:12666631G>A	uc002gno.2	+	13	2930	c.2631G>A	c.(2629-2631)ggG>ggA	p.G877G	MYOCD_uc002gnn.2_Silent_p.G829G|MYOCD_uc002gnq.2_Silent_p.G553G	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	829					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TAAAAATTGGGAGCGAAGAGC	0.483000														57			22		0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138738946	138738946	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:138738946G>A	uc003esy.1	-	0	823	c.558C>T	c.(556-558)ttC>ttT	p.F186F		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	186										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTAGGGGATGAACATACTTC	0.637000														65			12		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169510677	169510677	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:169510677G>A	uc001ggg.1	-	12	3796	c.3651C>T	c.(3649-3651)ctC>ctT	p.L1217L		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1217	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTCTCTGAATGAGTTCTGGAG	0.537000														252			148		0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148963745	148963745	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:148963745A>T	uc011kuo.2	+	1	507	c.344A>T	c.(343-345)aAt>aTt	p.N115I	AF035281_uc003wfr.4_Non-coding_Transcript	NM_001195220	NP_001182149	C9J9J2	C9J9J2_HUMAN	Homo sapiens zinc finger family member 783 (ZNF783), mRNA.	115					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			CGGCTGGAGAATGTGGAGAAC	0.652000														56			64		0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3529819	3529819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:3529819C>T	uc002wim.2	+	5	1036	c.946C>T	c.(946-948)Cct>Tct	p.P316S	ATRN_uc002wil.2_Missense_Mutation_p.P316S|ATRN_uc021vzz.1_Missense_Mutation_p.P200S	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	316					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.P316H(2)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TTTATTAGGTCCTGGATGTTC	0.333000														34			31		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71212857	71212857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:71212857G>A	uc002ezr.3	-	3	506	c.355C>T	c.(355-357)Cca>Tca	p.P119S	HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Missense_Mutation_p.P119S|HYDIN_uc010vmc.2_Missense_Mutation_p.P136S|HYDIN_uc010vmd.2_Missense_Mutation_p.P146S|HYDIN_uc002ezw.4_Missense_Mutation_p.P136S	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	119										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AAAATCAGTGGAACTTCATAG	0.393000														34			31		0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44549192	44549192	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:44549192C>T	uc021ujl.1	-	0	1343	c.1107G>A	c.(1105-1107)ggG>ggA	p.G369G	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_001094287	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	369	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CGGGCGTCCACCCTTCCAGAA	0.602000														375			24		0	0	1	0	0
TMEM44	93109	broad.mit.edu	37	3	194346632	194346632	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:194346632T>A	uc010hzn.3	-	2	558	c.352A>T	c.(352-354)Aat>Tat	p.N118Y	TMEM44_uc003fuf.3_Missense_Mutation_p.N118Y|TMEM44_uc003fue.3_Missense_Mutation_p.N118Y|TMEM44_uc011bsv.2_Missense_Mutation_p.N118Y|TMEM44_uc003fuh.1_Non-coding_Transcript	NM_001166305	NP_001159777	Q2T9K0	TMM44_HUMAN	Homo sapiens transmembrane protein 44 (TMEM44), transcript variant 3, mRNA.	118						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		TCACCTGAATTAGACTTGAAT	0.473000														70			28		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154157412	154157412	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:154157412C>T	uc004fmt.3	-	13	4824	c.4653G>A	c.(4651-4653)gcG>gcA	p.A1551A		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1551	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCACTTAATCGCTCCCTCTG	0.483000														70			42		0	0	1	0	0
C4orf26	152816	broad.mit.edu	37	4	76489685	76489686	+	Missense_Mutation	DNP	AA	TG	TG			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:76489685_76489686AA>TG	uc011cbo.2	+	2	508_509	c.473_474AA>TG	c.(472-474)aaa>aTG	p.K158M	C4orf26_uc011cbn.2_Non-coding_Transcript|C4orf26_uc003hip.2_3'UTR	NM_001206981	NP_001193910	Q17RF5	CD026_HUMAN	Homo sapiens chromosome 4 open reading frame 26 (C4orf26), transcript variant 1, mRNA.	0						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GAAGCAAAAAAAAGCCTATCCT	0.361000														50			61		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14488204	14488204	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:14488204C>T	uc003jff.3	+	47	7473	c.7467C>T	c.(7465-7467)atC>atT	p.I2489I	TRIO_uc003jfg.3_Intron|TRIO_uc003jfh.1_Silent_p.I2138I	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2489					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity	p.S2488C(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GGAGCTCCATCCCCGCCTCCC	0.721000														23			4		0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41111009	41111009	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:41111009G>T	uc002ooh.1	+	4	520	c.520G>T	c.(520-522)Gac>Tac	p.D174Y	LTBP4_uc002oog.1_Missense_Mutation_p.D137Y|LTBP4_uc002ooi.1_Missense_Mutation_p.D107Y	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	174	EGF-like 1.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGTCCCCCGGACTTCGCTGG	0.667000														31			5		3.59834e-05	3.60642e-05	1	1	0
HBE1	3046	broad.mit.edu	37	11	5290833	5290833	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5290833G>A	uc001mal.1	-	1	432	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Silent_p.L56L	NM_005330	NP_005321	P02100	HBE_HUMAN	Homo sapiens hemoglobin, epsilon 1 (HBE1), mRNA.	56					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGTTGCCCAGGATGGCAGAG	0.488000														71			23		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76495858	76495858	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:76495858G>A	uc002fex.1	+	7	1487	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	CNTNAP4_uc002feu.1_Missense_Mutation_p.E446K|CNTNAP4_uc002fev.1_Missense_Mutation_p.E311K|CNTNAP4_uc010chb.1_Missense_Mutation_p.E374K|CNTNAP4_uc002few.2_Missense_Mutation_p.E422K	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	447	Laminin G-like 2.				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						CCTAGGTGTCGAATTAAATGA	0.443000														41			28		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117622149	117622149	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:117622149C>T	uc003pxp.1	-	41	6920	c.6721G>A	c.(6721-6723)Gaa>Aaa	p.E2241K	ROS1_uc011ebi.1_Non-coding_Transcript|RN7SK_uc021zee.1_5'Flank	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2241					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCAAAGCTTTCATTTATGACT	0.323000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									14			8		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834219	61834219	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:61834219G>A	uc001jky.3	-	36	6758	c.6420C>T	c.(6418-6420)gcC>gcT	p.A2140A	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.	2140					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			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						CGCTTTGTGGGGCTGAAGGTG	0.423000														73			21		0	0	1	0	0
SYNPR	132204	broad.mit.edu	37	3	63542241	63542241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:63542241G>A	uc003dlp.3	+	3	528	c.232G>A	c.(232-234)Gtg>Atg	p.V78M	SYNPR_uc011bfk.2_Non-coding_Transcript|SYNPR_uc011bfl.2_Intron|SYNPR_uc003dlq.3_Missense_Mutation_p.V58M|SYNPR_uc010hnt.3_Missense_Mutation_p.V67M|SYNPR_uc011bfm.2_Intron	NM_001130003	NP_001123475	Q8TBG9	SYNPR_HUMAN	Homo sapiens synaptoporin (SYNPR), transcript variant 1, mRNA.	58	MARVEL.					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		GACGTTTGAGGTGCCCACCTG	0.463000														12			9		0	0	1	0	0
KRTAP1-3	81850	broad.mit.edu	37	17	39190779	39190779	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:39190779T>C	uc002hvv.3	-	0	329	c.295A>G	c.(295-297)Agt>Ggt	p.S99G		NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	Homo sapiens keratin associated protein 1-3 (KRTAP1-3), mRNA.	109						extracellular region|keratin filament	structural constituent of epidermis	p.S99G(4)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACAGCTCCACTGCTGCCCTCC	0.652000														38			4		0	0	1	0	0
APOC1	341	broad.mit.edu	37	19	45422464	45422464	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45422464G>A	uc002pac.1	+	4	481	c.229G>A	c.(229-231)Gag>Aag	p.E77K	APOC1_uc002pad.1_Missense_Mutation_p.E77K|APOC1_uc002pae.1_Missense_Mutation_p.E77K|APOC1_uc002paf.1_Non-coding_Transcript	NM_001645	NP_001636	P02654	APOC1_HUMAN	Homo sapiens apolipoprotein C-I (APOC1), mRNA.	77					cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance	chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle	fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity			cervix(1)|large_intestine(1)|lung(2)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		GAAAGTGAAGGAGAAACTCAA	0.542000														220			164		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196857301	196857301	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:196857301C>T	uc001gtp.3	+	0	158	c.21C>T	c.(19-21)gtC>gtT	p.V7V	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Silent_p.V7V|CFH_uc001gto.3_Silent_p.V7V	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	0					complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TAATCAATGTCATTCTGACCT	0.343000														22			29		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062910	9062910	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9062910G>A	uc002mkp.3	-	2	24740	c.24536C>T	c.(24535-24537)tCc>tTc	p.S8179F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8181	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTTTCTGTGGAAGTCTCTGG	0.507000														49			17		0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35308323	35308323	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:35308323C>T	uc001mwd.3	-	7	1859	c.1267G>A	c.(1267-1269)Gga>Aga	p.G423R	SLC1A2_uc021qfx.1_Missense_Mutation_p.G414R|SLC1A2_uc001mwe.3_Missense_Mutation_p.G414R|SLC1A2_uc010rev.1_Missense_Mutation_p.G423R	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	423					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	ACAATCTGTCCTCCATCCAGG	0.488000														88			38		0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131404723	131404723	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:131404723G>A	uc011blq.2	-	5	751	c.641C>T	c.(640-642)aCt>aTt	p.T214I	CPNE4_uc003eok.3_Missense_Mutation_p.T196I|CPNE4_uc003eol.3_Missense_Mutation_p.T214I|CPNE4_uc003eom.3_Missense_Mutation_p.T196I	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	196	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TCTTACCTCAGTTCGGTGCAC	0.378000														18			5		0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330655	125330655	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:125330655G>A	uc004bmp.1	-	0	102	c.102C>T	c.(100-102)atC>atT	p.I34I		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L33F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCAGGTACACGATGAGGAAGA	0.498000														23			13		0	0	1	0	0
GTF2I	2969	broad.mit.edu	37	7	74103493	74103493	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:74103493G>A	uc003uau.3	+	1	401	c.31G>A	c.(31-33)Gtt>Att	p.V11I	GTF2I_uc003uat.3_Missense_Mutation_p.V11I|GTF2I_uc003uav.3_Missense_Mutation_p.V11I|GTF2I_uc003uaw.3_Missense_Mutation_p.V11I|GTF2I_uc003uay.3_Missense_Mutation_p.V11I|GTF2I_uc003uax.3_Missense_Mutation_p.V11I	NM_032999	NP_127492	P78347	GTF2I_HUMAN	Homo sapiens general transcription factor IIi (GTF2I), transcript variant 1, mRNA.	11					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						CACCCTCCCCGTTGAAGATGA	0.517000														72			38		0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	608893	608893	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:608893C>T	uc001lqe.3	+	13	3568	c.3437C>T	c.(3436-3438)cCa>cTa	p.P1146L	PHRF1_uc010qwc.2_Missense_Mutation_p.P1145L|PHRF1_uc010qwd.2_Missense_Mutation_p.P1144L|PHRF1_uc010qwe.2_Missense_Mutation_p.P1142L|PHRF1_uc009ybz.1_Missense_Mutation_p.P936L|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	1146	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CACGAGCGGCCAGACAGGAAG	0.692000														16			9		0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	128000919	128000919	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:128000919G>A	uc004bpn.3	-	5	1445	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V		NM_005347	NP_005338	P11021	GRP78_HUMAN	Homo sapiens heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) (HSPA5), mRNA.	395					ER-associated protein catabolic process|anti-apoptosis|cellular response to glucose starvation|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	AGCACCATACGCTACAGCTTC	0.478000										Prostate(1;0.17)				37			3		0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44191960	44191960	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:44191960C>T	uc003tkl.2	-	2	743	c.273G>A	c.(271-273)gtG>gtA	p.V91V	GCK_uc003tkj.1_Silent_p.V90V|GCK_uc003tkk.1_Silent_p.V92V	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	91					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CACCTTCTCCCACCTTCACCA	0.587000														585			236		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75936888	75936888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:75936888C>T	uc003kek.3	+	16	2276	c.2054C>T	c.(2053-2055)tCa>tTa	p.S685L	IQGAP2_uc010izv.2_Missense_Mutation_p.S238L|IQGAP2_uc011csv.2_Intron|IQGAP2_uc003kel.3_Intron	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	685					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GCTAGAAAATCATTTTTGCAT	0.393000														19			10		0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	123859365	123859365	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:123859365T>C	uc003iez.4	+	7	1492	c.1419T>C	c.(1417-1419)gtT>gtC	p.V473V	SPATA5_uc003iey.3_Silent_p.V472V	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	Homo sapiens spermatogenesis associated 5 (SPATA5), mRNA.	473					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	p.R472I(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AAAAAAGAGTTGTGGCTTCAC	0.383000														122			22		0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58450426	58450426	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:58450426C>T	uc002yaz.3	-	32	3388	c.3249G>A	c.(3247-3249)tgG>tgA	p.W1083*		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	1083					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATGAGTTTTTCCATTGTTTTG	0.368000														57			9		0	0	1	0	0
GJB2	2706	broad.mit.edu	37	13	20763697	20763697	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:20763697C>T	uc001umy.3	-	1	239	c.24G>A	c.(22-24)acG>acA	p.T8T	GJB2_uc021rha.1_Silent_p.T8T	NM_004004	NP_003995	P29033	CXB2_HUMAN	Homo sapiens gap junction protein, beta 2, 26kDa (GJB2), mRNA.	8					cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	ER-Golgi intermediate compartment|connexon complex|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		CCCCCAGGATCGTCTGCAGCG	0.512000									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		24			5		0	0	1	0	0
FAM220A	84792	broad.mit.edu	37	7	6370174	6370174	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:6370174C>T	uc003spu.3	-	1	1080	c.612G>A	c.(610-612)ctG>ctA	p.L204L	FAM220A_uc021zzf.1_Silent_p.L204L	NM_001037163	NP_001032240	Q7Z4H9	SIPAR_HUMAN	Homo sapiens chromosome 7 open reading frame 70 (C7orf70), mRNA.	204						nucleus											TCTCCTCACTCAGGAGCACTT	0.483000														74			99		0	0	1	0	0
ZNF841	284371	broad.mit.edu	37	19	52569877	52569877	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52569877G>A	uc010ydh.1	-	6	1718	c.1258C>T	c.(1258-1260)Cat>Tat	p.H420Y	ZNF841_uc002pyl.1_Missense_Mutation_p.H304Y	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	Homo sapiens zinc finger protein 841 (ZNF841), mRNA.	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TGGATTATATGATGTGCAGTG	0.393000														7			5		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26790013	26790013	+	Silent	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:26790013A>G	uc001iss.3	+	4	747	c.426A>G	c.(424-426)ccA>ccG	p.P142P	APBB1IP_uc001isr.3_Silent_p.P142P|APBB1IP_uc009xks.1_Silent_p.P142P	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	142	Pro-rich.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TTCCACTGCCACCACCACCTC	0.502000														77			70		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415216	105415216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:105415216G>A	uc010axc.1	-	6	6692	c.6572C>T	c.(6571-6573)tCc>tTc	p.S2191F	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S2091F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2191						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCTGCATGGAGGGGAGACT	0.622000														164			43		0	0	1	0	0
AIMP1	9255	broad.mit.edu	37	4	107258161	107258161	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:107258161C>T	uc003hyh.3	+	5	852	c.811C>T	c.(811-813)Cct>Tct	p.P271S	AIMP1_uc011cfg.2_Missense_Mutation_p.P247S|AIMP1_uc003hyg.3_Missense_Mutation_p.P247S	NM_001142416	NP_004748	Q12904	AIMP1_HUMAN	Homo sapiens aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 (AIMP1), transcript variant 3, mRNA.	247					angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	Golgi apparatus|aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						TGGGTCTGTTCCTGGAGACAG	0.383000														84			51		0	0	1	0	0
RTDR1	27156	broad.mit.edu	37	22	23404098	23404098	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:23404098C>T	uc002zwt.3	-	5	837	c.679G>A	c.(679-681)Gtg>Atg	p.V227M		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	Homo sapiens rhabdoid tumor deletion region gene 1 (RTDR1), mRNA.	227							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		AAATGACACACCTGTTTCTTG	0.582000														24			14		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10274037	10274037	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:10274037C>T	uc010uym.2	-	2	542	c.232G>A	c.(232-234)Gac>Aac	p.D78N	GRIN2A_uc002czo.4_Missense_Mutation_p.D78N|GRIN2A_uc002czr.4_Missense_Mutation_p.D78N|GRIN2A_uc010buk.3_Missense_Mutation_p.D78N	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	78					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)	CTCTTGGGGTCGGTGCGGTTC	0.667000														75			17		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104185	53104185	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:53104185C>T	uc003tpz.3	+	0	837	c.821C>T	c.(820-822)tCc>tTc	p.S274F		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	274										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACAACGCCTTCCTGCGGCAGC	0.637000														90			37		0	0	1	0	0
MYOZ2	51778	broad.mit.edu	37	4	120079232	120079232	+	Missense_Mutation	SNP	C	T	T	rs138061447		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:120079232C>T	uc003icp.4	+	3	515	c.302C>T	c.(301-303)tCg>tTg	p.S101L		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	Homo sapiens myozenin 2 (MYOZ2), mRNA.	101							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GAAGGTGGTTCGCAGCAAGCC	0.463000														49			58		0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52926663	52926663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:52926663G>A	uc003gzl.3	+	1	444	c.166G>A	c.(166-168)Ggg>Agg	p.G56R	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.G56R|SPATA18_uc003gzk.1_Missense_Mutation_p.G56R	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	56					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ACAACTCTTTGGGATCCTCAC	0.453000														23			8		0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461597	11461597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11461597C>T	uc001qzf.1	-	2	354	c.320G>A	c.(319-321)gGa>gAa	p.G107E	PRB4_uc001qzt.3_Missense_Mutation_p.G107E	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	149	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region		p.G106R(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGACTGGTTTCCTCCTTGTGG	0.612000										HNSCC(22;0.051)				270			53		0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56178417	56178417	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:56178417C>T	uc003jqw.4	+	13	3891	c.3390C>T	c.(3388-3390)tcC>tcT	p.S1130S		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	1130					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGCTCAACTCCAGTATTGAGG	0.423000														21			20		0	0	1	0	0
TMIGD2	126259	broad.mit.edu	37	19	4292752	4292752	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:4292752G>A	uc002lzx.2	-	4	739	c.693C>T	c.(691-693)ccC>ccT	p.P231P	TMIGD2_uc021umz.1_Missense_Mutation_p.P115L|TMIGD2_uc021una.1_Missense_Mutation_p.P63L|TMIGD2_uc010dtv.2_Silent_p.P227P	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA.	231	Pro-rich.					integral to membrane		p.P231L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCTGGCGGGGGGCCGGTT	0.687000														23			31		0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54612430	54612430	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:54612430C>T	uc022adk.1	+	1	600	c.195C>T	c.(193-195)ttC>ttT	p.F65F	VSTM2A_uc010kzf.3_Silent_p.F65F	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	65	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			AATGGTGGTTCCTGCGGGGGC	0.716000														36			12		0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873617	91873617	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:91873617C>T	uc004efk.2	+	6	4567	c.3722C>T	c.(3721-3723)tCa>tTa	p.S1241L	PCDH11X_uc004efl.2_Missense_Mutation_p.S1231L|PCDH11X_uc010nmv.2_3'UTR|PCDH11X_uc004efm.2_Missense_Mutation_p.S1233L|PCDH11X_uc004efn.2_Missense_Mutation_p.S1223L|PCDH11X_uc004efo.2_Missense_Mutation_p.S1204L	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	1241					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCACAGGCCTCAGCCCTCTGC	0.587000														40			26		0	0	1	0	0
KLHL8	57563	broad.mit.edu	37	4	88085211	88085211	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:88085211G>A	uc011cdb.1	-	8	1943	c.1558C>T	c.(1558-1560)Cct>Tct	p.P520S	KLHL8_uc003hql.1_Missense_Mutation_p.P520S|KLHL8_uc003hqm.1_Missense_Mutation_p.P444S|KLHL8_uc003hqn.1_Missense_Mutation_p.P337S|KLHL8_uc010ikj.1_Missense_Mutation_p.P169S	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	Homo sapiens kelch-like 8 (Drosophila) (KLHL8), mRNA.	520			P -> R (in dbSNP:rs17854114).							breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		GAACTCAGAGGAGAATTATCA	0.383000														48			15		0	0	1	0	0
CCNL1	57018	broad.mit.edu	37	3	156866176	156866176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:156866176G>A	uc003fbf.3	-	10	2034	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	CCNL1_uc003fbd.1_Intron|CCNL1_uc003fbe.3_Missense_Mutation_p.R273W|CCNL1_uc003fbg.3_Non-coding_Transcript|CCNL1_uc011bor.2_Non-coding_Transcript	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	Homo sapiens cyclin L1 (CCNL1), mRNA.	479					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding	p.R479L(1)|p.R479R(1)		NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GAGTGATCCCGAGACTTGCTC	0.453000														89			27		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176734925	176734925	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:176734925G>A	uc001gkz.3	+	14	5439	c.4275G>A	c.(4273-4275)agG>agA	p.R1425R	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1425	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTTGTCAAAGGGGATTTGCCC	0.522000														53			115		0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587570	42587570	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:42587570G>A	uc003xpi.1	+	4	1248	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	374					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CAAAGTCCTCGAAAAAAAGAA	0.388000														41			6		0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36362577	36362577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:36362577C>T	uc002oce.3	+	4	739	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	APLP1_uc010xsz.2_Missense_Mutation_p.R162W|APLP1_uc002ocf.3_Missense_Mutation_p.R201W|APLP1_uc002ocg.3_Missense_Mutation_p.R104W|APLP1_uc010xta.2_Missense_Mutation_p.R195W	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	201					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	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)			TGGCTCGGATCGGTTCCGTGG	0.642000														63			15		0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67808488	67808488	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:67808488C>T	uc003xwz.4	+	10	1534	c.1363C>T	c.(1363-1365)Cag>Tag	p.Q455*	MCMDC2_uc011lev.2_Nonsense_Mutation_p.Q455*|MCMDC2_uc011lew.2_Nonsense_Mutation_p.Q386*|MCMDC2_uc011lex.2_Nonsense_Mutation_p.Q213*|MCMDC2_uc003xwy.4_Nonsense_Mutation_p.Q455*	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	Homo sapiens chromosome 8 open reading frame 45 (C8orf45), transcript variant 1, mRNA.	455					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						TTTTCCAGTTCAGTGCAGTTT	0.388000														38			33		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86028341	86028341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:86028341C>T	uc003dql.3	+	7	977	c.977C>T	c.(976-978)aCt>aTt	p.T326I	CADM2_uc003dqj.3_Missense_Mutation_p.T324I|CADM2_uc003dqk.3_Intron|CADM2_uc003dqm.2_Missense_Mutation_p.T216I|CADM2_uc021xay.1_Intron|CADM2_uc021xaz.1_Intron|CADM2_uc021xba.1_Missense_Mutation_p.T216I	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	324	Thr-rich.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTTCCCACTACTATCATCCCC	0.408000														118			37		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35814619	35814619	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:35814619G>A	uc003jjo.3	+	36	5544	c.5433G>A	c.(5431-5433)gaG>gaA	p.E1811E	SPEF2_uc003jjr.3_Silent_p.E866E	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1811					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTGATGGAGAGAGATCACCTT	0.313000														36			5		0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173355752	173355752	+	Splice_Site	SNP	G	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:173355752G>C	uc002uhp.1	+	21	2883	c.2680_splice	c.e21-1	p.E894_splice	ITGA6_uc010zdy.1_Splice_Site_p.E775_splice|ITGA6_uc002uho.1_Splice_Site_p.E894_splice|ITGA6_uc010fqm.1_Splice_Site_p.E525_splice	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	933					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TTTTTTTCAGGAGTCTCACAA	0.328000														43			68		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30694898	30694899	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:30694898_30694899CC>AT	uc003xil.3	-	2	7752_7753	c.7752_7753GG>AT	c.(7750-7755)aaggat>aaATat	p.D2585Y		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2585										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTCAATGTATCCTTCATGTATT	0.401000														38			26		0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76094577	76094577	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:76094577G>A	uc002jud.2	+	17	5060	c.4460G>A	c.(4459-4461)tGg>tAg	p.W1487*	TNRC6C_uc002juf.2_Nonsense_Mutation_p.W1523*	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	1487	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			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)			TCCTCCACCTGGGGTGCCAGC	0.592000														79			16		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46802451	46802451	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:46802451G>A	uc011dwh.1	+	10	1838	c.1830G>A	c.(1828-1830)ctG>ctA	p.L610L	MEP1A_uc010jzh.1_Silent_p.L582L|MEP1A_uc011dwg.1_Silent_p.L304L|MEP1A_uc011dwi.1_Silent_p.L482L	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	582					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			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)			GGAGTTTCCTGAAAAATGATG	0.413000														74			12		0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551191	248551191	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248551191C>T	uc001iei.1	+	0	282	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCATCTCTTTCATCGCCTGCA	0.532000														44			49		0	0	1	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257813	41257813	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:41257813C>T	uc003azj.3	-	0	318	c.186G>A	c.(184-186)cgG>cgA	p.R62R	XPNPEP3_uc011aox.2_Intron|XPNPEP3_uc003azh.3_Intron|XPNPEP3_uc003azi.3_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azf.2_3'UTR|XPNPEP3_uc003azg.2_Non-coding_Transcript|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 7 (DNAJB7), mRNA.	62	J.				protein folding		heat shock protein binding|unfolded protein binding	p.R62L(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						CATAAATGTCCCGTTTCTCAT	0.378000														127			39		0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40689425	40689425	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:40689425T>A	uc002hzv.3	+	1	733	c.393T>A	c.(391-393)taT>taA	p.Y131*		NM_000263	NP_000254	P54802	ANAG_HUMAN	Homo sapiens N-acetylglucosaminidase, alpha (NAGLU), mRNA.	131						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	GGTACCGCTATTACCAGAATG	0.612000														55			71		0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2076235	2076235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:2076235G>A	uc003zhc.3	+	12	2041	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	SMARCA2_uc003zhd.3_Missense_Mutation_p.E648K|SMARCA2_uc010mha.3_Missense_Mutation_p.E639K	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	648	Poly-Glu.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCAGGATGAGGAAGAAGAGTC	0.368000														20			13		0	0	1	0	0
DCDC2B	149069	broad.mit.edu	37	1	32676890	32676890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:32676890G>A	uc001bun.2	+	1	284	c.284G>A	c.(283-285)gGg>gAg	p.G95E		NM_001099434	NP_001092904	A2VCK2	DCD2B_HUMAN	Homo sapiens doublecortin domain containing 2B (DCDC2B), mRNA.	95					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCCCATAGAGGGAAGGACCCA	0.567000														4			10		0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5920789	5920789	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:5920789A>G	uc003zjq.4	-	7	5423	c.5207T>C	c.(5206-5208)tTa>tCa	p.L1736S	KIAA2026_uc010mht.3_Missense_Mutation_p.L911S	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	1736										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AGCTGATGTTAAACATTTAGG	0.423000														10			65		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170116	207170116	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:207170116C>T	uc002vbp.2	+	4	1114	c.864C>T	c.(862-864)ttC>ttT	p.F288F		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	288							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GCTTGAAATTCCATGAACGCA	0.358000														21			6		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3326245	3326245	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:3326245G>A	uc022aqr.1	-	11	1940	c.1550C>T	c.(1549-1551)gCt>gTt	p.A517V		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	518	CUB 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTGGTAAACAGCTTTAAACCC	0.463000														10			4		0	0	1	0	0
PDIA6	10130	broad.mit.edu	37	2	10937289	10937289	+	Silent	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:10937289G>T	uc002rau.3	-	3	402	c.264C>A	c.(262-264)tcC>tcA	p.S88S	PDIA6_uc010yjg.2_Silent_p.S85S|PDIA6_uc002rav.3_Silent_p.S140S|PDIA6_uc010yjh.2_Silent_p.S93S|PDIA6_uc002raw.3_Silent_p.S136S	NM_005742	NP_005733	Q15084	PDIA6_HUMAN	Homo sapiens protein disulfide isomerase family A, member 6 (PDIA6), mRNA.	88	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		GACCTCCTAGGGAATGATGCT	0.398000														52			7		0.00198382	0.0019853	1	1	0
AKR1D1	6718	broad.mit.edu	37	7	137776624	137776624	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:137776624C>T	uc003vtz.3	+	2	459	c.372C>T	c.(370-372)gcC>gcT	p.A124A	AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqb.1_Silent_p.A124A|AKR1D1_uc011kqc.1_Non-coding_Transcript|AKR1D1_uc011kqf.2_Silent_p.A124A|AKR1D1_uc011kqe.1_Silent_p.A124A|AKR1D1_uc010lmy.1_Non-coding_Transcript	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	124					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TACCCATGGCCTTTAAGGTGA	0.507000														100			20		0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79664602	79664602	+	Silent	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:79664602A>G	uc011dyp.2	-	34	4205	c.3979T>C	c.(3979-3981)Ttg>Ctg	p.L1327L	PHIP_uc003piq.3_Silent_p.L352L|PHIP_uc003pir.3_Silent_p.L1328L|PHIP_uc003pio.4_Silent_p.L214L	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	1328					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AGATTTAACAATTCTTCACAC	0.353000														8			9		0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563235	55563235	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55563235C>T	uc010rim.2	+	0	204	c.204C>T	c.(202-204)ctC>ctT	p.L68L		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTAGTCACCTCTCTTTTGTTG	0.378000														45			28		0	0	1	0	0
F2RL1	2150	broad.mit.edu	37	5	76129575	76129575	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:76129575G>A	uc003keo.3	+	1	1318	c.1143G>A	c.(1141-1143)agG>agA	p.R381R		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	381					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		AACACTCCAGGAAATCCAGCT	0.463000														180			73		0	0	1	0	0
DBX1	120237	broad.mit.edu	37	11	20177792	20177792	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:20177792C>T	uc021qez.1	-	3	1117	c.1114G>A	c.(1114-1116)Ggc>Agc	p.G372S	DBX1_uc021qey.1_Missense_Mutation_p.G334S	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	Homo sapiens developing brain homeobox 1 (DBX1), mRNA.	334					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E372D(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						TGTTCCTCGCCCTCCTCTTCC	0.622000														170			57		0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133078628	133078628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:133078628C>T	uc003qdt.3	-	1	282	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	VNN2_uc003qds.3_5'UTR|VNN2_uc010kgb.3_Missense_Mutation_p.E91K|VNN2_uc003qdv.3_Missense_Mutation_p.E38K	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	91	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		AAAACAGTTTCCCTGGTAAAT	0.403000														17			16		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185956672	185956672	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:185956672C>T	uc001grq.1	+	19	3273	c.3044C>T	c.(3043-3045)tCc>tTc	p.S1015F	HMCN1_uc001grr.1_Missense_Mutation_p.S356F	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1015	Ig-like C2-type 7.				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						GTCATCTGGTCCAAGGTAAAT	0.458000														139			87		0	0	1	0	0
PAPOLG	64895	broad.mit.edu	37	2	61009067	61009067	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:61009067C>T	uc002sai.3	+	10	1203	c.954C>T	c.(952-954)gcC>gcT	p.A318A	PAPOLG_uc002saj.3_Silent_p.A7A|PAPOLG_uc002sak.3_5'UTR|PAPOLG_uc010fch.3_Silent_p.A7A	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA.	318					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TCACCCCTGCCTACCCACAAC	0.393000														100			21		0	0	1	0	0
COPZ2	51226	broad.mit.edu	37	17	46110610	46110610	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:46110610G>A	uc002imy.3	-	5	334	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_016429	NP_057513	Q9P299	COPZ2_HUMAN	Homo sapiens coatomer protein complex, subunit zeta 2 (COPZ2), mRNA.	109					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat|cis-Golgi network				lung(3)|upper_aerodigestive_tract(1)	4						CCACGTATAGGAAGAGGTCAA	0.488000														21			8		0	0	1	0	0
IL2RA	3559	broad.mit.edu	37	10	6063460	6063460	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:6063460C>T	uc001iiz.2	-	3	783	c.564G>A	c.(562-564)atG>atA	p.M188I	IL2RA_uc009xih.2_Intron|IL2RA_uc001ija.1_Intron	NM_000417	NP_000408	P01589	IL2RA_HUMAN	Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA.	188					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GACTGGTCTCCATTTCACCTG	0.562000														116			43		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128404936	128404936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:128404936C>T	uc003qbk.3	-	8	1866	c.1499G>A	c.(1498-1500)gGa>gAa	p.G500E	PTPRK_uc010kfc.3_Missense_Mutation_p.G500E|PTPRK_uc003qbj.3_Missense_Mutation_p.G500E|PTPRK_uc011ebu.2_Missense_Mutation_p.G500E|PTPRK_uc003qbl.1_Missense_Mutation_p.G370E|PTPRK_uc011ebv.1_Missense_Mutation_p.G500E	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	500	Fibronectin type-III 3.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AAAGGATGTTCCTTGAAGAGA	0.338000														22			17		0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138453967	138453967	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:138453967C>T	uc003vuf.3	-	2	385	c.147G>A	c.(145-147)agG>agA	p.R49R	ATP6V0A4_uc003vug.3_Silent_p.R49R|ATP6V0A4_uc003vuh.3_Silent_p.R49R	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	49					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCACAAATTTCCTTTGAAAGC	0.338000														48			24		0	0	1	0	0
PFDN2	5202	broad.mit.edu	37	1	161072116	161072116	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:161072116G>A	uc001fxu.3	-	1	175	c.125C>T	c.(124-126)tCc>tTc	p.S42F		NM_012394	NP_036526	Q9UHV9	PFD2_HUMAN	Homo sapiens prefoldin subunit 2 (PFDN2), mRNA.	42					'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGCTGCTTTGGATGCCAGGCC	0.537000														120			47		0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27419137	27419137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:27419137G>A	uc003njj.3	-	4	3012	c.2201C>T	c.(2200-2202)tCc>tTc	p.S734F	ZNF184_uc010jqv.3_Missense_Mutation_p.S734F|ZNF184_uc003nji.3_Missense_Mutation_p.S734F	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	734					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATATCTGAAGGATTTTCCACA	0.383000														104			56		0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89816644	89816644	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:89816644C>T	uc010bnp.1	+	10	1009	c.919C>T	c.(919-921)Ccc>Tcc	p.P307S	FANCI_uc002bnm.1_Missense_Mutation_p.P307S|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bnp.1_Missense_Mutation_p.P128S	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	307					DNA repair|cell cycle	nucleoplasm	protein binding	p.P307S(2)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TAACTTAAGTCCCTTCAGCAT	0.318000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					85			47		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6194297	6194297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:6194297C>T	uc001amb.2	-	19	3146	c.3035G>A	c.(3034-3036)gGc>gAc	p.G1012D	CHD5_uc001alz.2_5'Flank|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1012					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ATCGTAGGAGCCATTGGGCAA	0.597000														70			32		0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179751867	179751867	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:179751867G>A	uc003mlw.1	-	7	723	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	209	Glutamine amidotransferase type-2.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TATTTGCTCCGGACTCCGATG	0.547000														81			19		0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42930511	42930511	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:42930511C>T	uc002otr.3	-	0	1068	c.791G>A	c.(790-792)gGa>gAa	p.G264E	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	264					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				ACCAGATTTTCCTTTGAAGCC	0.488000														67			35		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76755193	76755193	+	Missense_Mutation	SNP	C	T	T	rs149889901		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:76755193C>T	uc002lmt.3	+	1	3202	c.3202C>T	c.(3202-3204)Cac>Tac	p.H1068Y	SALL3_uc010dra.3_Missense_Mutation_p.H603Y	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	1068					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		AGTGAACGGTCACGGCAAGGC	0.652000														15			27		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123974921	123974921	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:123974921G>A	uc001lfv.3	+	9	7659	c.7299G>A	c.(7297-7299)gtG>gtA	p.V2433V	TACC2_uc001lfw.3_Silent_p.V579V|TACC2_uc009xzx.3_Silent_p.V2388V|TACC2_uc010qtv.2_Silent_p.V2437V|TACC2_uc001lfx.3_Silent_p.V137V|TACC2_uc001lfy.3_Silent_p.V133V|TACC2_uc001lfz.3_Silent_p.V511V|TACC2_uc001lga.3_Silent_p.V511V|TACC2_uc009xzy.3_Silent_p.V523V|TACC2_uc001lgb.3_Silent_p.V468V|TACC2_uc010qtw.1_Silent_p.V528V	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2433						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)				CATTTAGGGTGAAAAAGTCGC	0.502000														27			53		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955726	51955726	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51955726T>C	uc002pwt.3	-	6	1474	c.1407A>G	c.(1405-1407)gaA>gaG	p.E469E	SIGLEC8_uc010yda.2_Silent_p.E360E|SIGLEC8_uc002pwu.3_Intron|SIGLEC8_uc010eox.2_Silent_p.E376E	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	469					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCTCCGAGTATTCACTGTCAG	0.537000														75			51		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39564383	39564383	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:39564383C>T	uc003xni.3	+	17	2032	c.1977C>T	c.(1975-1977)tcC>tcT	p.S659S	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Silent_p.S635S	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	659					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)			AGTTTGGTTCCCCAGGGGGTA	0.318000														61			23		0	0	1	0	0
AATK	9625	broad.mit.edu	37	17	79093188	79093188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:79093188G>A	uc010dia.3	-	12	4156	c.4076C>T	c.(4075-4077)tCc>tTc	p.S1359F	AATK_uc010dhz.3_Non-coding_Transcript|AATK_uc021ueu.1_Missense_Mutation_p.S1256F	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 1, mRNA.	1359						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			ACCTCTCTTGGACTCGGCGTC	0.731000														23			4		0	0	1	0	0
OR8G1	26494	broad.mit.edu	37	11	124120970	124120970	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:124120970C>T	uc001pzx.3	+	0	548	c.548C>T	c.(547-549)cCc>cTc	p.P183L		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		GATCTTCTTCCCCTCCTAAAG	0.393000														19			15		0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133829221	133829221	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:133829221T>C	uc003ytt.3	+	10	1597	c.1272T>C	c.(1270-1272)ccT>ccC	p.P424P	PHF20L1_uc003yts.3_Silent_p.P424P|PHF20L1_uc011lja.2_Silent_p.P398P|PHF20L1_uc003ytu.1_Intron	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	424							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TACCCATGCCTGATGATTCTG	0.463000														40			24		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701074	192701074	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:192701074C>T	uc002utb.3	-	1	1208	c.853G>A	c.(853-855)Gga>Aga	p.G285R		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	285						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GAGCTTTTTCCTGAGGATATT	0.458000														143			49		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52496382	52496382	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:52496382G>A	uc001wzo.3	-	9	2518	c.2284C>T	c.(2284-2286)Cct>Tct	p.P762S	NID2_uc010tqs.2_Missense_Mutation_p.P762S|NID2_uc010tqt.1_Missense_Mutation_p.P762S|NID2_uc001wzp.3_Missense_Mutation_p.P762S	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	762	EGF-like 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCATAGCAAGGATTCCCCGGA	0.517000														34			16		0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58034485	58034485	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:58034485G>A	uc001nmq.1	-	0	1248	c.846C>T	c.(844-846)gcC>gcT	p.A282A		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				TGTTCCTCAGGGCATAGATAA	0.537000														46			41		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20668406	20668406	+	Missense_Mutation	SNP	G	A	A	rs148559046		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:20668406G>A	uc001mqd.3	+	13	2269	c.1996G>A	c.(1996-1998)Gag>Aag	p.E666K	SLC6A5_uc009yic.3_Missense_Mutation_p.E431K	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	666					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.E666D(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGAAGATATAGAGATGATGAT	0.448000														38			10		0	0	1	0	0
RAVER2	55225	broad.mit.edu	37	1	65268667	65268667	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:65268667G>A	uc001dbt.2	+	3	798	c.751G>A	c.(751-753)Gga>Aga	p.G251R	RAVER2_uc001dbs.2_Missense_Mutation_p.G372R|RAVER2_uc010opb.2_Missense_Mutation_p.G251R	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 2 (RAVER2), mRNA.	372	RRM 3.					cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AGCCGTTCTTGGAACACCTCA	0.303000														25			18		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10920104	10920104	+	Missense_Mutation	SNP	C	T	T	rs142165446		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:10920104C>T	uc002yip.1	-	18	1518	c.1150G>A	c.(1150-1152)Gga>Aga	p.G384R	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.G366R|TPTE_uc002yir.1_Missense_Mutation_p.G346R|TPTE_uc010gkv.1_Missense_Mutation_p.G246R	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	384	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.G366*(1)|p.G384*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTTTTTACTCCCTGAAATTTT	0.378000														52			11		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106725137	106725137	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106725137C>T	uc021ser.1	-	928		c.22341G>A								Parts of antibodies, mostly variable regions.																		CCGCTGATTTCCCCCCCATCG	0.587000														56			25		0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48606545	48606545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:48606545G>A	uc010wmr.2	+	17	3011	c.2849G>A	c.(2848-2850)aGt>aAt	p.S950N	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	913					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			AGCCTGCACAGTGAGGTGAAG	0.542000														31			6		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247599340	247599340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:247599340C>T	uc001icr.3	+	7	2705	c.2567C>T	c.(2566-2568)tCc>tTc	p.S856F	NLRP3_uc001ics.3_Intron|NLRP3_uc001icu.3_Missense_Mutation_p.S856F|NLRP3_uc001icw.3_Missense_Mutation_p.S799F|NLRP3_uc001icv.3_Intron|NLRP3_uc010pyw.2_Missense_Mutation_p.S834F	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	856					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACCAGCCATTCCCTGACCAGA	0.483000														78			27		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431099	140431099	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140431099G>A	uc003lik.1	+	0	121	c.44G>A	c.(43-45)gGa>gAa	p.G15E		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	15					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCAAGTGGGATCTCTTCTC	0.498000														14			48		0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68566742	68566742	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:68566742G>A	uc001oog.4	-	5	807	c.637C>T	c.(637-639)Ctt>Ttt	p.L213F	CPT1A_uc001oof.4_Missense_Mutation_p.L213F	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	213					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CTTGGTCCAAGACCGACAGCA	0.403000														51			11		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233506	21233506	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:21233506T>C	uc002red.3	-	25	6362	c.6234A>G	c.(6232-6234)caA>caG	p.Q2078Q		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2078	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAAAATATTCTTGCAAGGTCT	0.343000														209			691		0	0	1	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42885818	42885818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:42885818G>A	uc010zwl.2	+	1	273	c.206G>A	c.(205-207)gGc>gAc	p.G69D	GDAP1L1_uc002xlp.1_Missense_Mutation_p.G69D|GDAP1L1_uc002xlq.3_Missense_Mutation_p.G69D|GDAP1L1_uc010zwm.2_Missense_Mutation_p.G69D|GDAP1L1_uc010zwn.2_Intron	NM_024034	NP_076939	Q96MZ0	GD1L1_HUMAN	Homo sapiens ganglioside-induced differentiation-associated protein 1-like 1 (GDAP1L1), mRNA.	69	GST N-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCGAGAAGGGCCTGGTGTGC	0.697000														7			3		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64050543	64050543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:64050543G>A	uc002amp.3	-	3	1200	c.1052C>T	c.(1051-1053)tCg>tTg	p.S351L	HERC1_uc010uil.1_Intron|HERC1_uc010bgt.1_Missense_Mutation_p.S351L	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	351					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACATGTTCTCGAATAATCAGA	0.398000														31			9		0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12501536	12501536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:12501536G>A	uc010dyt.3	-	3	1880	c.1676C>T	c.(1675-1677)cCc>cTc	p.P559L	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						ACACTCATAGGGTTTCTCTCT	0.418000														60			20		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534822	55534822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:55534822G>A	uc003xsd.1	+	2	909	c.761G>A	c.(760-762)gGa>gAa	p.G254E	RP1_uc011ldy.1_Missense_Mutation_p.G254E	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	254					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	p.G254E(2)|p.G254*(1)|p.G64E(1)		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)			TACCCCAAGGGAAATGCAAAG	0.418000														32			19		0	0	1	0	0
AK311167	0	broad.mit.edu	37	9	69067873	69067873	+	RNA	SNP	A	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:69067873A>C	uc010mnq.2	+	1		c.471A>C								Homo sapiens cDNA, FLJ18209.																		aagaagaaaaagagcaaagat	0.284000														6			4		0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49830143	49830143	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:49830143C>T	uc010rhy.2	+	5	1461	c.983C>T	c.(982-984)gCa>gTa	p.A328V	LOC440040_uc009ymb.3_Missense_Mutation_p.A328V					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		GAGCTCAGTGCAGGGCCCATC	0.468000														17			8		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284141	223284141	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:223284141G>A	uc021pjl.1	-	0	2233	c.2233C>T	c.(2233-2235)Cag>Tag	p.Q745*	TLR5_uc001hnv.2_Nonsense_Mutation_p.Q745*|TLR5_uc001hnw.2_Nonsense_Mutation_p.Q745*	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	745	TIR.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		ATGGCATCCTGGATATTGGCA	0.473000														57			14		0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113299474	113299474	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:113299474C>T	uc021xcn.1	+	4	1232	c.581C>T	c.(580-582)cCc>cTc	p.P194L	SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Missense_Mutation_p.P194L|SIDT1_uc011big.2_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	194						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TACAAGTTTCCCAAAGACGTG	0.338000														69			21		0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17235193	17235193	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:17235193G>A	uc002dfa.3	-	6	1489	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	468					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGCACTCCAGGAAGAGCCGAT	0.612000														29			15		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370110	126370110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:126370110C>T	uc003ifj.4	+	8	7939	c.7939C>T	c.(7939-7941)Cct>Tct	p.P2647S	FAT4_uc011cgp.2_Missense_Mutation_p.P945S|FAT4_uc003ifi.1_Missense_Mutation_p.P125S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2647	Cadherin 25.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						cggtggtttccctcctttctC	0.368000														28			26		0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63487362	63487362	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:63487362C>T	uc001nxq.3	+	2	1575	c.1388C>T	c.(1387-1389)tCt>tTt	p.S463F	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Missense_Mutation_p.S351F|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Missense_Mutation_p.S444F|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	463					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TCTTTGGGTTCTGGAGTGGCC	0.453000														44			41		0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74270111	74270111	+	Missense_Mutation	SNP	C	T	T	rs80008208		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:74270111C>T	uc003hgs.4	+	0	140	c.67C>T	c.(67-69)Cgt>Tgt	p.R23C	ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Missense_Mutation_p.R23C|ALB_uc011cbf.2_5'Flank	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	23	Albumin 1.		R -> C (in Redhill/Malmo-I/Tradate; associated with T-344 in Redhill).|R -> H (in Fukuoka-2/Lille/Taipei/Varese/ Komagome-3).		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GGGTGTGTTTCGTCGAGATGC	0.368000														42			55		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57896515	57896515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:57896515C>T	uc002aei.3	+	1	255	c.124C>T	c.(124-126)Cct>Tct	p.P42S	GCOM1_uc002aej.3_Missense_Mutation_p.P42S|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Missense_Mutation_p.P42S|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.P42S	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	42					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						GAGTCCAGTTCCTGAGCAATG	0.498000														103			85		0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8181422	8181422	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:8181422G>A	uc003sro.4	-	9	1064	c.928C>T	c.(928-930)Cag>Tag	p.Q310*	ICA1_uc010ktr.3_Nonsense_Mutation_p.Q339*|ICA1_uc003srm.3_Nonsense_Mutation_p.Q310*|ICA1_uc003srn.4_Nonsense_Mutation_p.Q236*|ICA1_uc003srq.3_Nonsense_Mutation_p.Q310*|ICA1_uc003srr.3_Nonsense_Mutation_p.Q309*|ICA1_uc010kts.3_Intron	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	310					neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TCCTTGCGCTGGTTTTCTTCC	0.289000														46			8		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572699	140572699	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140572699C>T	uc003lix.3	+	0	748	c.574C>T	c.(574-576)Cca>Tca	p.P192S		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	192	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATGATATATCCAGAGCTAGT	0.507000														63			164		0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129300	83129300	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:83129300C>T	uc004eei.1	+	3	1605	c.1584C>T	c.(1582-1584)tcC>tcT	p.S528S	CYLC1_uc004eeh.1_Silent_p.S527S	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	528					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATGAATCTTCCAAGACAGGCT	0.353000														6			4		0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949635	27949635	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:27949635C>T	uc003zqv.1	-	6	1685	c.1035G>A	c.(1033-1035)agG>agA	p.R345R	LINGO2_uc010mjf.1_Silent_p.R345R|LINGO2_uc003zqu.1_Silent_p.R345R|LINGO2_uc022bfc.1_Silent_p.R345R	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	345						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CCTCCAGAGCCCTAGGGGAGG	0.562000														5			23		0	0	1	0	0
RNF146	81847	broad.mit.edu	37	6	127608726	127608726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:127608726C>T	uc021zes.1	+	2	1104	c.968C>T	c.(967-969)cCc>cTc	p.P323L	RNF146_uc021zet.1_Missense_Mutation_p.P322L|RNF146_uc021zeu.1_Missense_Mutation_p.P322L|RNF146_uc021zev.1_Missense_Mutation_p.P322L|RNF146_uc021zew.1_Missense_Mutation_p.P323L|RNF146_uc003qat.3_Missense_Mutation_p.P322L|RNF146_uc021zex.1_Missense_Mutation_p.P322L|RNF146_uc003qaw.3_Missense_Mutation_p.P322L|RNF146_uc003qau.3_Missense_Mutation_p.P322L|RNF146_uc003qav.3_Missense_Mutation_p.P323L|RNF146_uc021zey.1_Missense_Mutation_p.P322L	NM_001242851	NP_001229780	Q9NTX7	RN146_HUMAN	Homo sapiens ring finger protein 146 (RNF146), transcript variant 10, mRNA.	323					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		CAGACAGTACCCGATCGATCA	0.488000														22			12		0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134151287	134151287	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:134151287C>T	uc009zdf.3	+	3	739	c.379C>T	c.(379-381)Ctg>Ttg	p.L127L	GLB1L3_uc010scs.2_Silent_p.L127L|GLB1L3_uc010sct.2_5'UTR	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	127					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TCCGTGGAACCTGCATGAGCC	0.493000														62			34		0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43522979	43522979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:43522979C>T	uc002ovm.1	-	2	759	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Missense_Mutation_p.E96K|PSG11_uc002ovo.1_Missense_Mutation_p.E96K	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	218	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TTCCATATTTCACATTCATAG	0.507000														197			169		0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881239	142881239	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142881239G>C	uc011ksw.2	+	0	728	c.728G>C	c.(727-729)gGa>gCa	p.G243A		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	243					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					CTACACATGGGAAGCAATGCC	0.493000														53			44		0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65824369	65824369	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:65824369C>T	uc001ogy.1	+	5	650	c.610C>T	c.(610-612)Cct>Tct	p.P204S	SF3B2_uc001ogx.1_Missense_Mutation_p.P203S	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	204					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CACCCCAGTCCCTCGGCCCCC	0.592000														46			13		0	0	1	0	0
CST9	128822	broad.mit.edu	37	20	23584153	23584153	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:23584153C>T	uc002wtl.3	-	1	583	c.474G>A	c.(472-474)ggG>ggA	p.G158G		NM_001008693	NP_001008693	Q5W186	CST9_HUMAN	Homo sapiens cystatin 9 (testatin) (CST9), mRNA.	158						extracellular region	cysteine-type endopeptidase inhibitor activity			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					GGGCTCACTTCCCTTTGTCCC	0.602000														16			19		0	0	1	0	0
MFGE8	4240	broad.mit.edu	37	15	89453037	89453037	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:89453037T>C	uc002bng.4	-	1	304	c.191A>G	c.(190-192)aAc>aGc	p.N64S	MFGE8_uc002bnf.4_5'UTR|MFGE8_uc002bnh.4_Missense_Mutation_p.N64S|MFGE8_uc010bnn.3_Missense_Mutation_p.N56S|MFGE8_uc010upq.2_Intron|MFGE8_uc010bno.3_Intron	NM_005928	NP_005919	Q08431	MFGM_HUMAN	Homo sapiens milk fat globule-EGF factor 8 protein (MFGE8), transcript variant 1, mRNA.	64	EGF-like.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CTCACAGTGGTTGCCCGCGTA	0.567000														50			57		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30700722	30700722	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:30700722C>T	uc003xil.3	-	0	5812	c.5812G>A	c.(5812-5814)Gat>Aat	p.D1938N		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1938										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTGTTTAAATCTTTAGACAAA	0.353000														25			36		0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151787517	151787517	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:151787517C>T	uc001ezh.3	-	4	791	c.683G>A	c.(682-684)cGa>cAa	p.R228Q	RORC_uc001ezg.3_Missense_Mutation_p.R207Q|RORC_uc010pdo.2_Missense_Mutation_p.R282Q|RORC_uc010pdp.2_Missense_Mutation_p.R228Q	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	228	Hinge (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGTCCACATCGGTCAGGGGT	0.612000														15			20		0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725443	87725443	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:87725443G>T	uc003pli.3	+	1	1094	c.391G>T	c.(391-393)Gcc>Tcc	p.A131S	HTR1E_uc021zcg.1_Missense_Mutation_p.A131S	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	131					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TATTGAATACGCCAGGAAGAG	0.572000														26			30		7.26314e-15	7.32886e-15	1	1	0
PUSL1	126789	broad.mit.edu	37	1	1244951	1244951	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:1244951T>G	uc001aed.3	+	3	471	c.441T>G	c.(439-441)ttT>ttG	p.F147L	ACAP3_uc001aeb.2_5'Flank|ACAP3_uc001aec.1_5'UTR|PUSL1_uc010nyi.2_5'UTR|PUSL1_uc009vjx.3_5'UTR	NM_153339	NP_699170	Q8N0Z8	PUSL1_HUMAN	Homo sapiens pseudouridylate synthase-like 1 (PUSL1), mRNA.	147					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			lung(3)|skin(1)|urinary_tract(1)	5	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;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGCCGGTGTTTGAACGCAACC	0.687000														20			8		0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77705082	77705082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:77705082G>A	uc002jxa.3	+	0	201	c.181G>A	c.(181-183)Ggg>Agg	p.G61R		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	61					negative regulation of DNA replication|negative regulation of cell proliferation|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	p.D60D(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCCGAGACGGGGTGAAGGC	0.647000														37			10		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21009370	21009370	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:21009370G>A	uc001bdr.4	-	10	2357	c.2239C>T	c.(2239-2241)Ctg>Ttg	p.L747L	KIF17_uc001bdp.4_Silent_p.L25L|KIF17_uc009vpx.3_Silent_p.L117L|KIF17_uc001bds.4_Silent_p.L747L	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	747					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGCTCCAACAGCTGCAGACTG	0.612000														34			14		0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37234268	37234268	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:37234268C>T	uc002hrg.2	-	10	1296	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	LOC100131347_uc002hre.1_Intron|LOC100131347_uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Missense_Mutation_p.E70K|PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	362					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCGTGGTCCTCATCCTGGAAG	0.552000														61			31		0	0	1	0	0
ARSI	340075	broad.mit.edu	37	5	149681730	149681730	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:149681730G>A	uc003lrv.2	-	0	796	c.207C>T	c.(205-207)atC>atT	p.I69I		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	Homo sapiens arylsulfatase family, member I (ARSI), mRNA.	69						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAGGGGTCTCGATATCTGAAC	0.622000														28			5		0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965891	88965891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:88965891C>T	uc011khi.2	+	3	4133	c.3595C>T	c.(3595-3597)Cca>Tca	p.P1199S		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	1199						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACAGACAGTTCCAGTTCACCA	0.507000										HNSCC(36;0.09)				50			89		0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122839846	122839846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:122839846G>A	uc001ucg.2	-	5	1174	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	CLIP1_uc001uch.1_Missense_Mutation_p.S340F|CLIP1_uc001uci.1_Missense_Mutation_p.S340F|CLIP1_uc001ucj.1_Missense_Mutation_p.S41F|CLIP1_uc009zxo.1_5'Flank|CLIP1_uc010tae.2_Intron	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	340					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GTAACGGGAGGAGGTTTCAGT	0.567000														33			27		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189012428	189012428	+	Splice_Site	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:189012428C>A	uc011cle.1	-	8	1711	c.1489_splice	c.e8+1		TRIML2_uc003izj.1_Splice_Site|TRIML2_uc003izk.1_Splice_Site|TRIML2_uc003izl.2_Splice_Site	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.								ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|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)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCTCCTACTCCTGGAACGCTT	0.398000														7			5		0.014758	0.0147663	1	1	0
IGSF9B	22997	broad.mit.edu	37	11	133790959	133790959	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:133790959G>A	uc001qgx.4	-	17	2892	c.2661C>T	c.(2659-2661)ccC>ccT	p.P887P		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	887						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGCGGAACTCGGGGTACATGT	0.652000														40			29		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130929739	130929739	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:130929739G>A	uc001uil.2	-	6	822	c.606C>T	c.(604-606)gtC>gtT	p.V202V	RIMBP2_uc001uim.3_Silent_p.V110V	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	202	SH3 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGTCTCCATAGACGTAGAGGT	0.557000														74			41		0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150275724	150275724	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:150275724C>T	uc021yfx.1	-	6	1553	c.1125G>A	c.(1123-1125)ggG>ggA	p.G375G	ZNF300_uc021yfy.1_Silent_p.G359G|ZNF300_uc021yfz.1_Silent_p.G323G	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAAGGCTTTCCCGCATTCAC	0.428000														49			7		0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	95007262	95007262	+	Silent	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:95007262A>G	uc004art.1	-	26	3140	c.2883T>C	c.(2881-2883)ttT>ttC	p.F961F	IARS_uc004ars.1_Silent_p.F806F|IARS_uc004aru.3_Silent_p.F961F|IARS_uc010mqr.2_Silent_p.F851F|IARS_uc010mqt.2_Silent_p.F184F	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	961					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGTGTGCTTCAAATTGCGCAG	0.458000														1			29		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143806753	143806753	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:143806753C>T	uc011ktz.2	+	0	78	c.78C>T	c.(76-78)ctC>ctT	p.L26L		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L25I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CGATTCTCCTCTGTGGACTCT	0.512000														81			28		0	0	1	0	0
COX15	1355	broad.mit.edu	37	10	101487313	101487313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:101487313C>T	uc001kqb.4	-	2	897	c.280G>A	c.(280-282)Gag>Aag	p.E94K	COX15_uc001kqc.4_Missense_Mutation_p.E94K|COX15_uc010qpj.2_5'UTR	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	Homo sapiens COX15 homolog, cytochrome c oxidase assembly protein (yeast) (COX15), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	94					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		AGGCCAGACTCTGTCAACCTT	0.423000														26			63		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19261652	19261652	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:19261652G>A	uc002wrl.3	+	1	389	c.192G>A	c.(190-192)gcG>gcA	p.A64A	LOC100130264_uc010zsd.1_Intron	NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	64						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGATGATGGCGAGGAAGCTGA	0.522000														15			20		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151165712	151165712	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:151165712G>A	uc011bod.2	-	3	2057	c.2057C>T	c.(2056-2058)cCt>cTt	p.P686L		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	686					cell differentiation|multicellular organismal development|ossification	extracellular region		p.P686L(2)|p.P686S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGAGCAATAGGATTGGACTC	0.463000														45			18		0	0	1	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74368317	74368317	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:74368317A>G	uc002axa.1	-	7	615	c.574T>C	c.(574-576)Tgc>Cgc	p.C192R		NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN	Homo sapiens golgin A6 family, member A (GOLGA6A), mRNA.	192										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GCTTCTCTGCAGCTCGAGGAC	0.552000														144			17		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793544	65793544	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:65793544C>T	uc001ogt.3	-	0	445	c.307G>A	c.(307-309)Ggc>Agc	p.G103S		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	103	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GGGACGGCGCCTTGAGAGGGA	0.607000														90			55		0	0	1	0	0
COASY	80347	broad.mit.edu	37	17	40716081	40716081	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:40716081C>T	uc010cyj.3	+	3	1092	c.890C>T	c.(889-891)cCc>cTc	p.P297L	COASY_uc002hzz.3_Missense_Mutation_p.P268L|COASY_uc002iab.3_5'UTR|COASY_uc002iad.3_Missense_Mutation_p.P268L|COASY_uc002iac.3_Missense_Mutation_p.P268L|COASY_uc002iae.3_5'UTR|MLX_uc002iaf.3_5'Flank|MLX_uc002iag.3_5'Flank|MLX_uc002iah.3_5'Flank	NM_001042532	NP_079509	Q13057	COASY_HUMAN	Homo sapiens CoA synthase (COASY), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	268	Phosphopantetheine adenylyltransferase.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GATGTCATCCCCCTGCTGGAC	0.572000														52			36		0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96924441	96924441	+	Missense_Mutation	SNP	G	A	A	rs111905580		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:96924441G>A	uc001yfn.2	+	11	1293	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	417	Adenylate kinase.				cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TGCCCCTAACGATGTagggga	0.502000														38			19		0	0	1	0	0
MEF2B	100271849	broad.mit.edu	37	19	19257959	19257959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:19257959C>T	uc002nlp.2	-	6	1154	c.427G>A	c.(427-429)Gta>Ata	p.V143I	MEF2B_uc002nll.2_Missense_Mutation_p.V143I|MEF2B_uc010xqo.1_Missense_Mutation_p.V143I|MEF2B_uc010xqp.1_Missense_Mutation_p.V143I|MEF2B_uc002nlo.2_Missense_Mutation_p.V143I|MEF2B_uc002nlk.2_Missense_Mutation_p.V146I	NM_005919	NP_005910			Homo sapiens MEF2BNB-MEF2B readthrough (MEF2BNB-MEF2B), transcript variant 1, mRNA.											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			GCCCCGTATACCACATCTGGG	0.652000														9			3		0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46967529	46967529	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:46967529G>A	uc001jea.3	-	3	701	c.548C>T	c.(547-549)cCc>cTc	p.P183L	SYT15_uc001jdz.2_Missense_Mutation_p.P183L|SYT15_uc001jeb.3_Missense_Mutation_p.P61L|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	183	C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CTTCACCAGGGGGCTGCAGGT	0.597000														59			10		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43714177	43714177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:43714177G>A	uc001zrs.3	-	18	4109	c.3961C>T	c.(3961-3963)Ctc>Ttc	p.L1321F	TP53BP1_uc010udp.2_Missense_Mutation_p.L1321F|TP53BP1_uc001zrq.4_Missense_Mutation_p.L1326F|TP53BP1_uc001zrr.4_Missense_Mutation_p.L1326F|TP53BP1_uc010udq.1_Missense_Mutation_p.L1326F	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1321					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ATAGCTGAGAGACTTGTCCCA	0.572000								Other conserved DNA damage response genes						89			15		0	0	1	0	0
MUC20	200958	broad.mit.edu	37	3	195451910	195451910	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:195451910G>A	uc010hzo.3	+	1	562	c.436G>A	c.(436-438)Gat>Aat	p.D146N	MUC20_uc010hzp.3_Missense_Mutation_p.D111N|MUC20_uc011bte.1_5'Flank	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA.	327			Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CCTTTGCACCGATGACAGCTC	0.557000														130			78		0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71039588	71039588	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:71039588C>T	uc002shf.3	-	4	1607	c.1530G>A	c.(1528-1530)aaG>aaA	p.K510K	CLEC4F_uc010yqv.1_Silent_p.K510K	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	510	C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CCTGCTCCTCCTTGGAGGCCA	0.517000														95			14		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167145070	167145070	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:167145070G>A	uc010fpl.3	-	9	1532	c.1191C>T	c.(1189-1191)atC>atT	p.I397I	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Silent_p.I268I|SCN9A_uc002uds.1_Silent_p.I268I|SCN9A_uc002udt.1_Silent_p.I268I	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	397						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCACAGCCAGGATCAAGTTTA	0.408000														44			27		0	0	1	0	0
C11orf41	25758	broad.mit.edu	37	11	33565765	33565765	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:33565765C>T	uc021qfs.1	+	0	1889	c.1765C>T	c.(1765-1767)Cca>Tca	p.P589S	C11orf41_uc001mun.1_Missense_Mutation_p.P589S	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	589						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						TGCTTCCACACCATTCCAGAA	0.463000														83			20		0	0	1	0	0
CCDC109B	55013	broad.mit.edu	37	4	110605797	110605797	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:110605797C>T	uc011cfs.2	+	5	950	c.811C>T	c.(811-813)Cga>Tga	p.R271*		NM_017918	NP_060388	Q9NWR8	C109B_HUMAN	Homo sapiens coiled-coil domain containing 109B (CCDC109B), mRNA.	271						integral to membrane				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		TATAGTCACTCGACAGGTGAG	0.368000														38			30		0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21217127	21217127	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:21217127C>T	uc003zor.1	-	0	184	c.178G>A	c.(178-180)Gga>Aga	p.G60R	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	60					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.G60E(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGGGGGAATCCGAAATCATAT	0.507000														52			26		0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61011339	61011339	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:61011339C>T	uc010qif.1	-	12	1762	c.1696G>A	c.(1696-1698)Gga>Aga	p.G566R	FAM13C_uc010qid.2_Missense_Mutation_p.G460R|FAM13C_uc001jkn.3_Missense_Mutation_p.G544R|FAM13C_uc001jko.3_Missense_Mutation_p.G446R|FAM13C_uc010qie.2_Missense_Mutation_p.G461R	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	544										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACATACCTTCCTGTTTGTTTA	0.393000														141			33		0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26851655	26851655	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:26851655C>T	uc010crm.3	+	2	456	c.258C>T	c.(256-258)ccC>ccT	p.P86P	FOXN1_uc002hbj.3_Silent_p.P86P	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	86					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P86P(2)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CAGCCGGCCCCGGCCCTGGGC	0.687000														26			23		0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39672149	39672149	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:39672149G>A	uc002hwy.3	-	4	1205	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	KRT15_uc002hwz.3_Silent_p.S240S|KRT15_uc002hxa.3_Silent_p.S173S|KRT15_uc002hxb.1_Silent_p.S173S	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	338	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TGCTGAGCTGGGACTGCAGCT	0.577000														141			35		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453706	84453706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:84453706C>T	uc001vlk.3	-	0	2823	c.1937G>A	c.(1936-1938)cGa>cAa	p.R646Q		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	646						integral to membrane		p.R646*(1)|p.R646R(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGACCGCTTTCGGTTCCTCAG	0.562000														36			6		0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46601390	46601390	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:46601390C>T	uc009zkj.1	-	6	1088	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	SLC38A1_uc001rpb.3_Missense_Mutation_p.E135K|SLC38A1_uc001rpc.3_Missense_Mutation_p.E135K|SLC38A1_uc001rpd.3_Missense_Mutation_p.E135K|SLC38A1_uc001rpe.3_Missense_Mutation_p.E135K|SLC38A1_uc010slh.2_Missense_Mutation_p.E108K|SLC38A1_uc001rpa.3_Missense_Mutation_p.E135K	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	135					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CCCAGCTTTTCATACACCATG	0.383000														82			24		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6679431	6679431	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:6679431G>A	uc002mfm.3	-	36	4595	c.4533C>T	c.(4531-4533)tgC>tgT	p.C1511C		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1511					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CAGCACAGCGGCACAGTTCAT	0.572000														66			77		0	0	1	0	0
TBX3	6926	broad.mit.edu	37	12	115115394	115115394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:115115394C>T	uc001tvt.1	-	4	1896	c.932G>A	c.(931-933)aGa>aAa	p.R311K	TBX3_uc001tvu.1_Missense_Mutation_p.R291K	NM_016569	NP_057653	O15119	TBX3_HUMAN	Homo sapiens T-box 3 (TBX3), transcript variant 2, mRNA.	311					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CCTTTTTTCTCTTCGGCCATT	0.373000														26			29		0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31774237	31774237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:31774237G>A	uc001wrf.4	-	31	5298	c.5113C>T	c.(5113-5115)Cct>Tct	p.P1705S	HEATR5A_uc010ami.3_Missense_Mutation_p.P1310S	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	1699							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)		GTCAATTTAGGGTTTAATTCT	0.443000														113			51		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124323028	124323028	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:124323028C>T	uc001uft.4	+	27	4599	c.4574C>T	c.(4573-4575)cCc>cTc	p.P1525L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1525	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTAAAAGACCCCGTGATCAAG	0.547000														22			12		0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53217761	53217761	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:53217761C>T	uc001sbb.3	-	5	1089	c.1056G>A	c.(1054-1056)ggG>ggA	p.G352G	KRT79_uc001sba.3_Silent_p.G123G	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	352	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCAGGTTGTCCCCATGCTTCC	0.607000														13			7		0	0	1	0	0
CPLX3	594855	broad.mit.edu	37	15	75122526	75122526	+	Missense_Mutation	SNP	G	A	A	rs144213956		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:75122526G>A	uc002ayu.1	+	2	1536	c.308G>A	c.(307-309)cGg>cAg	p.R103Q		NM_001030005	NP_001025176	Q8WVH0	CPLX3_HUMAN	Homo sapiens complexin 3 (CPLX3), mRNA.	103						cell junction|synapse	syntaxin binding			large_intestine(2)|lung(2)	4						GAGCTGCCCCGGGAGCTGGCC	0.617000														31			27		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83674049	83674049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:83674049C>T	uc001paj.2	-	8	1207	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	DLG2_uc001pai.2_Missense_Mutation_p.E251K|DLG2_uc010rsy.1_Missense_Mutation_p.E269K|DLG2_uc021qof.1_Missense_Mutation_p.E341K|DLG2_uc010rsz.1_Missense_Mutation_p.E302K|DLG2_uc010rta.1_Missense_Mutation_p.E302K|DLG2_uc001pak.2_Missense_Mutation_p.E407K|DLG2_uc010rtb.1_Missense_Mutation_p.E269K|DLG2_uc001pal.1_Missense_Mutation_p.E302K|DLG2_uc001pam.2_Missense_Mutation_p.E341K	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	302						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGATGGTTTTCCATTGGTGGA	0.413000														42			38		0	0	1	0	0
OOEP	441161	broad.mit.edu	37	6	74078998	74078998	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:74078998G>T	uc003pgu.4	-	1	301	c.301C>A	c.(301-303)Cgt>Agt	p.R101S	OOEP_uc003pgv.4_Missense_Mutation_p.R46S	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN	Homo sapiens oocyte expressed protein homolog (dog) (OOEP), mRNA.	101	KH; atypical.					cytoplasm		p.R101L(1)		large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						TTCTGTACACGGGGCCGCCCG	0.557000														19			9		3.86212e-05	3.86935e-05	1	1	0
GUCY2D	3000	broad.mit.edu	37	17	7907264	7907264	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:7907264C>T	uc002gjt.2	+	2	890	c.816C>T	c.(814-816)tcC>tcT	p.S272S		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.	272					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CCGATGGCTCCCTGGTCTTCC	0.677000														91			33		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160757961	160757962	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:160757961_160757962GG>AA	uc003lys.1	-	8	1223_1224	c.1005_1006CC>TT	c.(1003-1008)ccccaa>ccTTaa	p.Q336*	GABRB2_uc011deh.1_Nonsense_Mutation_p.Q175*|GABRB2_uc003lyr.1_Nonsense_Mutation_p.Q336*|GABRB2_uc003lyt.1_Nonsense_Mutation_p.Q336*|GABRB2_uc021yhg.1_Nonsense_Mutation_p.Q273*	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	336				Q -> L (in Ref. 4; BAF82419).	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTTTGGCGTTGGGGCCCCCTCC	0.510000														81			24		0	0	1	0	0
TEAD3	7005	broad.mit.edu	37	6	35446053	35446053	+	Splice_Site	SNP	C	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:35446053C>G	uc003oku.4	-	7	766	c.530_splice	c.e7+1	p.D177_splice	TEAD3_uc003okt.3_Splice_Site_p.D66_splice|TEAD3_uc010jvx.3_Splice_Site_p.D117_splice	NM_003214	NP_003205	Q99594	TEAD3_HUMAN	Homo sapiens TEA domain family member 3 (TEAD3), mRNA.	177	Pro-rich.|Transcriptional activation (Potential).				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						AATACTCACTCCTGAGAGGGT	0.607000														21			23		0	0	1	0	0
TMC8	147138	broad.mit.edu	37	17	76134513	76134513	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:76134513C>T	uc002jup.2	+	12	1999	c.1617C>T	c.(1615-1617)ctC>ctT	p.L539L	TMC8_uc002juq.2_Silent_p.L316L|TMC8_uc002jur.1_5'UTR	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.	539						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			TAGTGCTCCTCCTGGGCCTGC	0.637000														71			58		0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55725871	55725871	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:55725871C>T	uc021tio.1	+	4	876	c.825C>T	c.(823-825)ttC>ttT	p.F275F	SLC6A2_uc002eif.3_Silent_p.F275F|SLC6A2_uc002eig.3_Silent_p.F275F|SLC6A2_uc002eii.3_Silent_p.F170F|SLC6A2_uc002eij.3_Intron	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	275					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCGTGCTGTTCGTGCTCCTGG	0.602000														15			14		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3238090	3238090	+	Missense_Mutation	SNP	C	T	T	rs147225813		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:3238090C>T	uc004crg.4	-	4	5793	c.5636G>A	c.(5635-5637)gGa>gAa	p.G1879E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1879	Ig-like C2-type 3.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTTGGTTTTCCTGTTGCCTC	0.433000														16			16		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10411972	10411972	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10411972G>A	uc002gmo.3	-	15	1699	c.1605C>T	c.(1603-1605)tcC>tcT	p.S535S	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	535	Myosin head-like.					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						CTTCCAGGATGGAGAAGATGC	0.393000														26			53		0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62499146	62499146	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:62499146A>C	uc010deh.2	-	7	924	c.881T>G	c.(880-882)cTg>cGg	p.L294R	DDX5_uc002jek.2_Missense_Mutation_p.L294R|DDX5_uc002jej.2_Missense_Mutation_p.L189R|DDX5_uc010wqa.1_Missense_Mutation_p.L215R|MIR3064_uc021ubr.1_5'Flank|MIR5047_uc021ubs.1_5'Flank|DDX5_uc002jel.1_Missense_Mutation_p.L42R	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	294	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			ATAGTCTTTCAGGAAATCTTC	0.393000			T	ETV4	prostate									75			49		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21698479	21698479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:21698479G>A	uc003svc.3	+	29	5204	c.5173G>A	c.(5173-5175)Gaa>Aaa	p.E1725K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1725	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E1725Q(2)		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						TTCTATAACAGAAGCCATAGT	0.438000									Kartagener syndrome					18			6		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25678327	25678327	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:25678327G>A	uc003grr.3	+	12	2110	c.2029G>A	c.(2029-2031)Gag>Aag	p.E677K	SLC34A2_uc003grs.3_Missense_Mutation_p.E676K|SLC34A2_uc010iev.3_Missense_Mutation_p.E676K	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	677					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GGCTCAGGGTGAGGTCCCTGC	0.582000			T	ROS1	NSCLC									28			13		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43817595	43817595	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:43817595G>A	uc001zrt.3	+	3	4391	c.3924G>A	c.(3922-3924)gcG>gcA	p.A1308A		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1308				KYLPGAITSPD -> EVLTWGDHQALN (in Ref. 4; AAD00355).		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)	TACCTGGGGCGATCACAAGCC	0.507000														45			48		0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103018150	103018150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:103018150C>T	uc003vbz.3	-	17	2144	c.1882G>A	c.(1882-1884)Gaa>Aaa	p.E628K	SLC26A5_uc003vbt.2_Missense_Mutation_p.E628K|SLC26A5_uc003vbu.2_Intron|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.E596K	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	628	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CTTTGCATTTCCTCAGGAAAT	0.423000														38			61		0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69079079	69079079	+	Silent	SNP	C	T	T	rs61737463		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:69079079C>T	uc011bfx.2	-	10	2737	c.2490G>A	c.(2488-2490)caG>caA	p.Q830Q	TMF1_uc003dnn.3_Silent_p.Q827Q	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	827					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	p.S830F(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TGGAAGACATCTGAATTTTGT	0.428000														76			38		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067300	9067300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9067300C>T	uc002mkp.3	-	2	20350	c.20146G>A	c.(20146-20148)Gaa>Aaa	p.E6716K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6718	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGATCACTTCAGTGGAGATG	0.498000														107			120		0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20410537	20410537	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:20410537G>A	uc002dhc.1	-	1	309	c.86C>T	c.(85-87)tCc>tTc	p.S29F		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	29					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GTGGATGCTGGAAACACCGGC	0.602000														46			68		0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52869729	52869729	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52869729T>A	uc002pyx.4	+	5	1504	c.1098T>A	c.(1096-1098)caT>caA	p.H366Q	ZNF610_uc002pyy.4_Missense_Mutation_p.H366Q|ZNF610_uc002pyz.4_Missense_Mutation_p.H323Q|ZNF610_uc002pza.3_Missense_Mutation_p.H366Q	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN	Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AAATAATTCATAGTACAGAGA	0.428000														49			19		0	0	1	0	0
C3orf36	80111	broad.mit.edu	37	3	133647335	133647335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:133647335G>A	uc003epz.1	-	0	1322	c.313C>T	c.(313-315)Cct>Tct	p.P105S		NM_025041	NP_079317	Q3SXR2	CC036_HUMAN	Homo sapiens chromosome 3 open reading frame 36 (C3orf36), mRNA.	105										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						GGTGAGCAAGGTGGGGGCCCC	0.682000														4			20		0	0	1	0	0
TCP11	6954	broad.mit.edu	37	6	35086119	35086119	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:35086119G>A	uc003okd.2	-	9	1659	c.1478C>T	c.(1477-1479)cCc>cTc	p.P493L	TCP11_uc003ojz.1_Missense_Mutation_p.P418L|TCP11_uc003oka.2_Missense_Mutation_p.P418L|TCP11_uc003okb.2_Missense_Mutation_p.P417L|TCP11_uc011dsu.1_Missense_Mutation_p.P475L|TCP11_uc003okc.2_Missense_Mutation_p.P417L|TCP11_uc011dsv.1_Missense_Mutation_p.P442L|TCP11_uc011dsw.1_Missense_Mutation_p.P447L	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	480					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						AGTGTAGTAGGGACCAAACAC	0.493000														170			46		0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478185	14478185	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:14478185C>T	uc010xai.2	-	2		c.1379G>A								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		TAGACCCATCCTTGCTCTGTG	0.453000														21			13		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21213293	21213294	+	Missense_Mutation	DNP	CC	TT	TT	rs143012218	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:21213293_21213294CC>TT	uc010bwn.1	-	11	1537_1538	c.1455_1456GG>AA	c.(1453-1458)acggat>acAAat	p.D486N	ZP2_uc002dii.2_Missense_Mutation_p.D447N	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	447	ZP.				binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GGAGGAAAATCCGTCCAGAGAG	0.361000														32			25		0	0	1	0	0
LGALS4	3960	broad.mit.edu	37	19	39299478	39299478	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:39299478C>T	uc002ojg.3	-	2	459	c.245G>A	c.(244-246)gGg>gAg	p.G82E	LGALS4_uc010xuj.2_Missense_Mutation_p.G82E	NM_006149	NP_006140	P56470	LEG4_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 4 (LGALS4), mRNA.	82	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding	p.G82R(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCCCCACTTCCCGCCCTGCAA	0.582000														51			21		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196759738	196759738	+	Missense_Mutation	SNP	G	A	A	rs142469040		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:196759738G>A	uc002utj.4	-	29	4959	c.4858C>T	c.(4858-4860)Cgt>Tgt	p.R1620C		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1620	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R1620C(2)		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						GCTAAGACACGATATGCACTA	0.323000														15			11		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558064	140558064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140558064G>A	uc011dai.2	+	0	694	c.449G>A	c.(448-450)gGg>gAg	p.G150E	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	150	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G150V(2)|p.P149P(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTCCTCCTGGGACTGCGTTT	0.418000														275			64		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440320	40440320	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:40440320G>A	uc003gvc.2	-	3	1301	c.591C>T	c.(589-591)gcC>gcT	p.A197A	RBM47_uc003gvd.2_Silent_p.A197A|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.A159A|RBM47_uc003gvg.1_Silent_p.A197A	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	197	RRM 2.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ACTCCACGAAGGCGAAGCCGC	0.662000														32			11		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16812746	16812746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:16812746C>T	uc010rcu.1	-	19	2764	c.2749G>A	c.(2749-2751)Gaa>Aaa	p.E917K	PLEKHA7_uc001mmo.3_Splice_Site_p.E916_splice|PLEKHA7_uc001mmm.3_Missense_Mutation_p.E19K|PLEKHA7_uc010rcv.2_Missense_Mutation_p.E491K|PLEKHA7_uc001mmn.3_Missense_Mutation_p.E625K	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	916	Pro-rich.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GCTTCATCTTCCTGCTGAGAA	0.617000														21			10		0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64031561	64031561	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:64031561G>T	uc009ypi.3	+	21	2756	c.2629G>T	c.(2629-2631)Gcc>Tcc	p.A877S	PLCB3_uc009ypg.2_Missense_Mutation_p.A877S|PLCB3_uc009yph.2_Missense_Mutation_p.A810S	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	877					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCGGCAGCTGGCCGCCCTCAT	0.657000														47			12		1.61879e-10	1.62945e-10	1	1	0
SELE	6401	broad.mit.edu	37	1	169696888	169696888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:169696888G>A	uc001ggm.4	-	8	1617	c.1460C>T	c.(1459-1461)tCc>tTc	p.S487F	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	487	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					ACCTTGGCAGGAAGGAACCTC	0.438000														91			62		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179404885	179404885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179404885C>T	uc021vsy.1	-	299	90529	c.90304G>A	c.(90304-90306)Gaa>Aaa	p.E30102K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E23797K|TTN_uc021vta.1_Missense_Mutation_p.E23730K|TTN_uc021vtb.1_Missense_Mutation_p.E23605K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31029	Fibronectin type-III 119.						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)			AACCTGTATTCTGCACCCTGA	0.463000														60			116		0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27950504	27950504	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:27950504G>A	uc003zqv.1	-	6	816	c.166C>T	c.(166-168)Ccc>Tcc	p.P56S	LINGO2_uc010mjf.1_Missense_Mutation_p.P56S|LINGO2_uc003zqu.1_Missense_Mutation_p.P56S|LINGO2_uc022bfc.1_Missense_Mutation_p.P56S	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	56	LRRNT.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GTTTCGATGGGAATGCCCTCT	0.493000														34			24		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9002352	9002352	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:9002352G>A	uc001quz.4	+	16	2214	c.2116G>A	c.(2116-2118)Ggt>Agt	p.G706S	A2ML1_uc001qva.1_Missense_Mutation_p.G286S|A2ML1_uc010sgm.2_Missense_Mutation_p.G206S	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	550						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CACTGCTATGGGTGGTAAGCC	0.483000														63			17		0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189734	58189734	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58189734G>A	uc002qpu.3	+	4	1460	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	255					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAGATCTCAGGAAGGGTCCAT	0.507000														26			33		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506189	11506189	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11506189C>T	uc001qzw.1	-	3	882	c.845G>A	c.(844-846)gGa>gAa	p.G282E	PRB1_uc001qzu.1_Missense_Mutation_p.G150E|PRB1_uc001qzv.1_Missense_Mutation_p.G130E	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	344	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGGGGTGGTCCTTGTGGCTT	0.612000														176			41		0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43933079	43933079	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:43933079G>A	uc002xnn.2	-	2	619	c.432C>T	c.(430-432)atC>atT	p.I144I	MATN4_uc002xnp.2_Silent_p.I144I|MATN4_uc002xno.2_Silent_p.I144I|MATN4_uc010zwr.1_Silent_p.I92I|MATN4_uc002xnr.1_Silent_p.I144I|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	144	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CGTCTGTCACGATGACAGCGA	0.711000														10			3		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71375682	71375682	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:71375682T>C	uc010dfm.3	-	34	4769	c.4769A>G	c.(4768-4770)aAc>aGc	p.N1590S	SDK2_uc002jjt.4_Missense_Mutation_p.N730S|SDK2_uc010dfn.2_Missense_Mutation_p.N1269S	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1590	Fibronectin type-III 10.				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						CCTGTGCTTGTTCAGGTCTGT	0.642000														23			29		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130415673	130415673	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:130415673G>A	uc004ewe.4	-	7	1775	c.1492C>T	c.(1492-1494)Cgc>Tgc	p.R498C	IGSF1_uc004ewd.3_Missense_Mutation_p.R498C|IGSF1_uc022cdv.1_Missense_Mutation_p.R489C|IGSF1_uc004ewf.2_Missense_Mutation_p.R478C	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	498	Ig-like C2-type 5.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGCTCACTGCGATGTGACCAG	0.527000														26			18		0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59912077	59912077	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:59912077C>T	uc002lil.3	+	10	1916	c.1701C>T	c.(1699-1701)ttC>ttT	p.F567F	KIAA1468_uc002lik.1_Silent_p.F567F|KIAA1468_uc010xel.2_Silent_p.F567F|KIAA1468_uc002lim.3_Silent_p.F211F	NM_020854	NP_065905	Q9P260	K1468_HUMAN	Homo sapiens KIAA1468 (KIAA1468), mRNA.	567							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				ACATACTTTTCAATTTGATCA	0.393000														24			6		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039723	36039723	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:36039723C>T	uc003jjz.2	-	4	1063	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	UGT3A2_uc011cos.2_Missense_Mutation_p.E277K|UGT3A2_uc011cot.2_Missense_Mutation_p.E9K	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	311						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGAAGATTTCCGGATTCTGA	0.493000														56			17		0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134151925	134151925	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:134151925C>T	uc009zdf.3	+	4	798	c.438C>T	c.(436-438)ttC>ttT	p.F146F	GLB1L3_uc010scs.2_Silent_p.F146F|GLB1L3_uc010sct.2_5'UTR	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	146					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.G146V(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CTAGGGCCTTCGTCCTGATGG	0.672000														9			4		0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14534953	14534953	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:14534953C>T	uc010dln.3	-	3	1318	c.864G>A	c.(862-864)gtG>gtA	p.V288V	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	288										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTAAAAATTTCACCACTTGCT	0.299000														70			7		0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371798	55371798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55371798C>T	uc010rii.2	-	0	77	c.52G>A	c.(52-54)Gat>Aat	p.D18N		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CTCAAGGGATCCTGTGTTAAT	0.383000														46			12		0	0	1	0	0
ZNF267	10308	broad.mit.edu	37	16	31926743	31926743	+	Silent	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:31926743T>A	uc002ecs.4	+	3	1382	c.1173T>A	c.(1171-1173)cgT>cgA	p.R391R		NM_003414	NP_003405	Q14586	ZN267_HUMAN	Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA.	391					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						CTTTTACTCGTTCCTCCAATC	0.353000														23			22		0	0	1	0	0
TFDP3	51270	broad.mit.edu	37	X	132351760	132351760	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:132351760G>A	uc004exb.1	-	0	617	c.528C>T	c.(526-528)atC>atT	p.I176I		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	Homo sapiens transcription factor Dp family, member 3 (TFDP3), mRNA.	176	Involved in negatively regulating E2F activity.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CCCTGGAGATGATATTCATGG	0.478000														3			20		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86468681	86468681	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:86468681C>T	uc003uid.3	+	3	2950	c.1851C>T	c.(1849-1851)atC>atT	p.I617I	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Silent_p.I489I|GRM3_uc010leh.3_Silent_p.I209I	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	617					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCTGCTACATCTTATTGTTTG	0.483000														125			29		0	0	1	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726628	25726628	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:25726628C>G	uc003nfc.3	-	0	163	c.128G>C	c.(127-129)cGg>cCg	p.R43P	HIST1H2BA_uc003nfd.3_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.	43					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TGCCCCTATCCGCTCTGCATA	0.527000														50			12		0	0	1	0	0
PEX26	55670	broad.mit.edu	37	22	18566338	18566338	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:18566338G>A	uc002znp.4	+	3	716	c.507G>A	c.(505-507)ctG>ctA	p.L169L	PEX26_uc002znt.3_Silent_p.L169L|PEX26_uc002znq.4_Silent_p.L169L	NM_017929	NP_060399	Q7Z412	PEX26_HUMAN	Homo sapiens peroxisomal biogenesis factor 26 (PEX26), transcript variant 1, mRNA.	169					protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGGTGCTGCTGCCTCTGGGCT	0.582000														105			30		0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9324970	9324970	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9324970C>T	uc002mla.2	-	0	578	c.544G>A	c.(544-546)Gct>Act	p.A182T		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGGACCTGAGCCGGTTCACAG	0.498000														67			29		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20249051	20249051	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20249051C>T	uc010tku.2	+	0	570	c.570C>T	c.(568-570)gcC>gcT	p.A190A		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGCCTGTGCCAACACCTTCC	0.473000														181			84		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60773370	60773370	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:60773370C>T	uc002sae.1	-	1	349	c.121G>A	c.(121-123)Ggg>Agg	p.G41R	BCL11A_uc002sab.3_Missense_Mutation_p.G41R|BCL11A_uc002sac.3_Missense_Mutation_p.G41R|BCL11A_uc010ypi.2_5'UTR|BCL11A_uc010ypj.2_Missense_Mutation_p.G41R|BCL11A_uc002saf.1_Missense_Mutation_p.G41R|BCL11A_uc010fcg.3_Missense_Mutation_p.G41R	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	41	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				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)			TCATGATCCCCTTCTGGAGCT	0.493000			T	IGH@	B-CLL									766			88		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106790962	106790962	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106790962G>A	uc021ser.1	-	619		c.17430C>T								Parts of antibodies, mostly variable regions.																		TTCCTGCAGGGAGGTTTGTGT	0.582000														351			79		0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129859246	129859247	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:129859246_129859247CT>TA	uc009yat.3	+	8	1005_1006	c.588_589CT>TA	c.(586-591)ccctgt>ccTAgt	p.C197S	PTPRE_uc001lkb.3_Missense_Mutation_p.C186S|PTPRE_uc010qup.1_Non-coding_Transcript|PTPRE_uc009yau.2_Missense_Mutation_p.C186S|PTPRE_uc001lkd.3_Missense_Mutation_p.C128S|PTPRE_uc010quq.1_Missense_Mutation_p.C87S	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	186	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				ATGGAATTCCCTGTTCAGACTA	0.465000														31			8		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92140529	92140529	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:92140529G>A	uc001xzs.1	-	11	1109	c.969C>T	c.(967-969)acC>acT	p.T323T		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	323					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CCTCACTTAGGGTTCTGTTTC	0.323000														45			14		0	0	1	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16734009	16734009	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrY:16734009C>T	uc011nas.1	+	1	189	c.10C>T	c.(10-12)Ccc>Tcc	p.P4S	NLGN4Y_uc004fte.2_Intron|NLGN4Y_uc004ftg.2_Missense_Mutation_p.P4S|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Missense_Mutation_p.P4S|NLGN4Y_uc004fti.4_Missense_Mutation_p.P4S	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	4					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CATGTTGCGTCCCCAGGGACT	0.488000														5			10		0	0	1	0	0
STS	412	broad.mit.edu	37	X	7171306	7171306	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:7171306G>A	uc004cry.4	+	1	326	c.81G>A	c.(79-81)ccG>ccA	p.P27P	STS_uc004crw.2_Non-coding_Transcript|STS_uc011mhp.1_Non-coding_Transcript|STS_uc004crx.1_Non-coding_Transcript	NM_000351	NP_000342	P08842	STS_HUMAN	Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	27					female pregnancy|steroid catabolic process	Golgi apparatus|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CATCAAGGCCGAACATCATCC	0.498000									Ichthyosis					16			25		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76491047	76491047	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:76491047C>T	uc010dhp.2	-	38	6161	c.6036G>A	c.(6034-6036)tcG>tcA	p.S2012S	AK127460_uc002jvt.1_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACACCTGCTTCGAGAGCAGCT	0.597000														15			13		0	0	1	0	0
RCN1	5954	broad.mit.edu	37	11	32125932	32125932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:32125932G>A	uc010reb.2	+	5	1176	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	RCN1_uc021qfp.1_Missense_Mutation_p.E138K|RCN1_uc001mtk.3_Missense_Mutation_p.E138K	NM_002901	NP_002892	Q15293	RCN1_HUMAN	Homo sapiens reticulocalbin 1, EF-hand calcium binding domain (RCN1), mRNA.	304	EF-hand 6.					endoplasmic reticulum lumen	calcium ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					AACTAAAGAGGAAATATTGGA	0.403000														17			3		0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819730	50819730	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:50819730G>A	uc001jhw.3	+	0	1384	c.944G>A	c.(943-945)tGg>tAg	p.W315*	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA.	315					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						ATTGCCACGTGGATGAAGCAT	0.637000														62			17		0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209188919	209188919	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:209188919C>T	uc002vcz.3	+	17	2402	c.2244C>T	c.(2242-2244)acC>acT	p.T748T	PIKFYVE_uc010fun.1_Silent_p.T429T|PIKFYVE_uc002vcy.1_Silent_p.T692T	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	748					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTCGACCCACCTTGGTTCTTG	0.373000														37			19		0	0	1	0	0
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:114355998C>G	uc002tkh.3	+	4	674	c.616C>G	c.(616-618)Cac>Gac	p.H206D	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		CCAAGGTGGGCACTTGATGTC	0.612000														12			3		0	0	1	0	0
OR2V2	285659	broad.mit.edu	37	5	180582855	180582855	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:180582855G>A	uc011dhj.2	+	0	913	c.913G>A	c.(913-915)Ggg>Agg	p.G305R		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTGAGGAAGGGGCTGGACCG	0.567000														12			38		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099166	168099166	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:168099166G>A	uc002udx.3	+	8	1353	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E247K|XIRP2_uc010fpq.3_Missense_Mutation_p.E200K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	247					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						CCAGAGGAAGGAAACATCAAC	0.423000														29			16		0	0	1	0	0
CST11	140880	broad.mit.edu	37	20	23432486	23432486	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:23432486C>T	uc002wtf.1	-	1	334	c.300G>A	c.(298-300)acG>acA	p.T100T	CST11_uc002wtg.1_Intron	NM_130794	NP_570612	Q9H112	CST11_HUMAN	Homo sapiens cystatin 11 (CST11), transcript variant 1, mRNA.	100					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity	p.T100T(2)		kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGACACAGTTCGTGGTCTCTG	0.522000														51			18		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199670	71199670	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:71199670G>A	uc001xmm.3	-	10	2416	c.2416C>T	c.(2416-2418)Cgg>Tgg	p.R806W	MAP3K9_uc010ttk.2_Missense_Mutation_p.R534W|MAP3K9_uc001xmk.3_Missense_Mutation_p.R539W|MAP3K9_uc001xml.3_Missense_Mutation_p.R820W	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	806					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CTGGTGCTCCGACGAGGACGG	0.622000														19			22		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101816103	101816103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:101816103C>T	uc003knn.3	-	1	566	c.394G>A	c.(394-396)Gat>Aat	p.D132N	SLCO6A1_uc003kno.3_Missense_Mutation_p.D132N|SLCO6A1_uc003knp.3_Missense_Mutation_p.D132N|SLCO6A1_uc003knq.3_Missense_Mutation_p.D132N	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	132						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTCTGAAAATCGCCAATGCTG	0.333000														48			14		0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88390635	88390635	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:88390635C>T	uc002ssr.3	+	3	718	c.633C>T	c.(631-633)aaC>aaT	p.N211N	SMYD1_uc002ssq.2_Intron|SMYD1_uc002sss.3_5'UTR	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	211	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GTTGGCCCAACTGTACTGTCA	0.507000														64			33		0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41313857	41313857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:41313857C>T	uc003jmm.1	-	2	930	c.828G>A	c.(826-828)atG>atA	p.M276I		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	276					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.A275V(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CCCACTGCATCATGGCAGGAA	0.433000														17			25		0	0	1	0	0
UVSSA	57654	broad.mit.edu	37	4	1348913	1348913	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:1348913C>T	uc003gde.4	+	6	1503	c.1056C>T	c.(1054-1056)acC>acT	p.T352T		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	Homo sapiens KIAA1530 (KIAA1530), mRNA.	352																	AGCGCTTCACCCGCGTCGGGA	0.622000														11			9		0	0	1	0	0
NUFIP2	57532	broad.mit.edu	37	17	27613735	27613735	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:27613735T>A	uc002hdy.4	-	1	1366	c.1277A>T	c.(1276-1278)aAt>aTt	p.N426I	NUFIP2_uc002hdx.4_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	426						nucleus|polysomal ribosome	RNA binding|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			AGGATAAACATTTCCATCAGT	0.468000														41			22		0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49063532	49063532	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:49063532C>T	uc004dnb.3	-	43	5260	c.5198G>A	c.(5197-5199)gGa>gAa	p.G1733E	CACNA1F_uc010nip.3_Missense_Mutation_p.G1722E	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1733					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CTGAGAATTTCCTTCTTCTGG	0.547000														2			8		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6553128	6553128	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:6553128C>T	uc001iji.1	-	1	330	c.246G>A	c.(244-246)aaG>aaA	p.K82K	PRKCQ_uc001ijj.2_Silent_p.K49K|PRKCQ_uc009xim.2_Silent_p.K49K|PRKCQ_uc009xin.2_Silent_p.K13K|PRKCQ_uc010qax.2_5'UTR	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	49	C2.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						ACATGGTAGGCTTTTTCTGGA	0.448000														71			50		0	0	1	0	0
ZNF214	7761	broad.mit.edu	37	11	7022746	7022746	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:7022746G>A	uc009yfh.1	-	2	467	c.168C>T	c.(166-168)ttC>ttT	p.F56F	ZNF214_uc001mfa.2_Silent_p.F56F|ZNF214_uc010ray.1_Silent_p.F56F	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	Homo sapiens zinc finger protein 214 (ZNF214), mRNA.	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		CTAAGTATCTGAATTTTTCTT	0.373000														93			25		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19020603	19020603	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:19020603G>A	uc002dfp.2	+	1	307	c.177G>A	c.(175-177)cgG>cgA	p.R59R	TMC7_uc010vao.1_Silent_p.R59R|TMC7_uc002dfq.3_Silent_p.R59R|TMC7_uc010vap.2_5'UTR	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	59			R -> W (in dbSNP:rs17854512).			integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TCCATTCCCGGGACAAGCAAA	0.507000														40			27		0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26589851	26589851	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:26589851C>T	uc001isp.2	+	15	2222	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	GAD2_uc001isq.2_Silent_p.F573F	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	573					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	ACATTGACTTCCTGATTGAAG	0.438000														99			36		0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56488261	56488261	+	Silent	SNP	C	T	T	rs56073151		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:56488261C>T	uc001sjh.3	+	14	2056	c.1780C>T	c.(1780-1782)Cta>Tta	p.L594L	ERBB3_uc009zoj.3_Intron|ERBB3_uc010sqb.2_Intron|ERBB3_uc010sqc.2_Silent_p.L535L|ERBB3_uc009zok.3_Silent_p.L36L|ERBB3_uc001sjk.3_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	594					Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCATGGAGTCCTAGGTGCCAA	0.542000														81			56		0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68552354	68552354	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:68552354C>T	uc001oog.4	-	9	1262	c.1092G>A	c.(1090-1092)caG>caA	p.Q364Q	CPT1A_uc001oof.4_Silent_p.Q364Q	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	364					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CCAGGATCCTCTGCATCTGCT	0.622000														36			14		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106791144	106791144	+	RNA	SNP	G	A	A	rs71278954		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106791144G>A	uc021ser.1	-	619		c.17248C>T								Parts of antibodies, mostly variable regions.																		TCCATCATATGATATAACTGC	0.507000														370			82		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17780453	17780453	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:17780453G>A	uc021uqk.1	-	4	345	c.303C>T	c.(301-303)tcC>tcT	p.S101S		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	101					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGATGACCTGGGAGTCCAGCG	0.617000														16			7		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240286571	240286571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:240286571C>T	uc010pye.2	+	1	1933	c.1708C>T	c.(1708-1710)Ctt>Ttt	p.L570F	FMN2_uc010pyd.2_Missense_Mutation_p.L570F	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	570					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGCCATGGGTCTTCTCCTTCC	0.502000														155			15		0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72943431	72943431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:72943431C>T	uc010wrr.2	+	5	1481	c.1481C>T	c.(1480-1482)cCc>cTc	p.P494L	OTOP3_uc010wrq.2_Missense_Mutation_p.P476L	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	494						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GCTGAGCCTCCCCGCAGAGGC	0.657000														29			22		0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55032550	55032550	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55032550G>A	uc010rid.2	+	1	305	c.219G>A	c.(217-219)aaG>aaA	p.K73K		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	Homo sapiens tripartite motif containing 48 (TRIM48), mRNA.	57						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AATGCATAAAGACAATACAGC	0.473000														53			30		0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26820755	26820755	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:26820755G>A	uc010wan.2	+	6	1259	c.1192G>A	c.(1192-1194)Ggc>Agc	p.G398S	SLC13A2_uc010wal.1_Missense_Mutation_p.G306S|SLC13A2_uc010wam.2_Missense_Mutation_p.G305S|SLC13A2_uc002hbh.3_Missense_Mutation_p.G349S|SLC13A2_uc010wao.2_Missense_Mutation_p.G306S|SLC13A2_uc002hbi.3_Missense_Mutation_p.G278S	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	349						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCGGGAGCCGGGCTTTTTTCT	0.587000														55			73		0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371492	55371492	+	Missense_Mutation	SNP	G	A	A	rs139149255	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55371492G>A	uc010rii.2	-	0	383	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120C(2)|p.R120P(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GCCACATAGCGATCAACAGCC	0.433000														49			32		0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61610405	61610405	+	Splice_Site	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:61610405T>C	uc002sbe.3	-	6	843	c.821_splice	c.e6+1	p.R274_splice		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	274					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TAAACTTACCTAATAACATAG	0.279000														65			11		0	0	1	0	0
CELF3	11189	broad.mit.edu	37	1	151688402	151688402	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:151688402C>A	uc001eys.2	-	0	889	c.95G>T	c.(94-96)cGg>cTg	p.R32L	CELF3_uc021oyt.1_5'UTR|CELF3_uc009wmy.3_Missense_Mutation_p.R32L|CELF3_uc001eyr.3_Missense_Mutation_p.R32L|CELF3_uc009wmx.2_Missense_Mutation_p.R32L|CELF3_uc001eyt.2_5'UTR|CELF3_uc010pdi.1_Missense_Mutation_p.R32L|RIIAD1_uc001eyu.2_Intron	NM_007185	NP_009116	Q5SZQ8	CELF3_HUMAN	Homo sapiens CUGBP, Elav-like family member 3 (CELF3), transcript variant 1, mRNA.	32	RRM 1.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CTCAAAGATCCGACCAAACTG	0.592000														68			26		1.1804e-14	1.19085e-14	1	1	0
MLL2	8085	broad.mit.edu	37	12	49442531	49442532	+	Missense_Mutation	DNP	GA	TC	TC			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49442531_49442532GA>TC	uc001rta.4	-	12	4041_4042	c.4041_4042TC>GA	c.(4039-4044)tctccc>tcGAcc	p.P1348T		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1348					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						TCCTTACTGGGAGAGCTATCAA	0.475000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				120			44		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158585192	158585192	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:158585192C>T	uc001fst.1	-	48	6800	c.6601_splice	c.e48-1	p.R2201_splice		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2201					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTCTGTTTTCTCTGGAAAAA	0.453000														140			37		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77328972	77328972	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:77328972G>T	uc002ffc.4	-	18	3273	c.2854C>A	c.(2854-2856)Cag>Aag	p.Q952K	ADAMTS18_uc010chc.1_Missense_Mutation_p.Q540K	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	952	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						TTTCGGCTCTGCTGGCCTCCA	0.498000														12			8		0.0581538	0.0581646	1	1	0
RAD54B	25788	broad.mit.edu	37	8	95390826	95390826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:95390826G>A	uc003ygk.3	-	12	2415	c.2284C>T	c.(2284-2286)Cct>Tct	p.P762S	RAD54B_uc010may.2_Missense_Mutation_p.P578S	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			ATATGTACAGGATATTTCTGA	0.353000								Direct reversal of damage;Homologous recombination						26			8		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113212422	113212422	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:113212422G>A	uc010mtz.3	-	23	4357	c.4020C>T	c.(4018-4020)acC>acT	p.T1340T	SVEP1_uc010mua.1_Silent_p.T1340T	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1340	EGF-like 4; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTCCACATCGGGTACCCAAAA	0.463000														17			130		0	0	1	0	0
CSTL1	128817	broad.mit.edu	37	20	23420929	23420929	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:23420929C>T	uc002wte.3	+	1	271	c.25C>T	c.(25-27)Ccc>Tcc	p.P9S	CSTL1_uc010zsu.2_Non-coding_Transcript|CSTL1_uc010zsv.2_Non-coding_Transcript	NM_138283	NP_612140	Q9H114	CST1L_HUMAN	Homo sapiens cystatin-like 1 (CSTL1), mRNA.	9						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					CTGGAGAAACCCCCTGCTGCT	0.552000														30			28		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321341	56321341	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56321341G>A	uc010ygf.2	-	4	1346	c.635C>T	c.(634-636)gCt>gTt	p.A212V	NLRP11_uc002qlz.3_Missense_Mutation_p.A113V|NLRP11_uc002qmb.3_Missense_Mutation_p.A113V|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	212	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGCAATGGGAGCCTGGCCGTC	0.483000														45			31		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129905334	129905334	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:129905334G>A	uc001lke.3	-	12	4965	c.4770C>T	c.(4768-4770)ggC>ggT	p.G1590G	MKI67_uc001lkf.3_Silent_p.G1230G|MKI67_uc009yav.1_Silent_p.G1165G|MKI67_uc009yaw.1_Silent_p.G740G	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1590	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTCTTTAAAGCCAGCCAGGT	0.488000														62			98		0	0	1	0	0
NLE1	54475	broad.mit.edu	37	17	33464654	33464654	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:33464654G>A	uc002hiy.1	-	5	571	c.543C>T	c.(541-543)ctC>ctT	p.L181L	NLE1_uc002hiz.1_5'UTR	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Homo sapiens notchless homolog 1 (Drosophila) (NLE1), transcript variant 1, mRNA.	181						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				GGTCCCAGAGGAGAATCTGAA	0.587000														28			9		0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172537976	172537976	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:172537976C>T	uc003fii.2	+	23	2739	c.2601C>T	c.(2599-2601)ttC>ttT	p.F867F	ECT2_uc003fih.2_Silent_p.F866F|ECT2_uc003fij.1_Silent_p.F867F|ECT2_uc003fik.1_Silent_p.F867F|ECT2_uc003fil.1_Silent_p.F898F|ECT2_uc003fim.1_3'UTR	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA.	867					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TTCCTTCCTTCTTTGAAAGGA	0.318000														40			11		0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162873347	162873347	+	Silent	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:162873347A>G	uc002ubz.3	-	17	2059	c.1498T>C	c.(1498-1500)Ttg>Ctg	p.L500L	DPP4_uc010fpb.3_Silent_p.L176L	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	500					T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	ATTTTATCCAAAGCTGAATTG	0.353000														32			12		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133575	22133575	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:22133575C>T	uc010tmd.2	+	0	279	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		AGACCATTTCCTTTGACAACT	0.438000														130			102		0	0	1	0	0
MIA2	117153	broad.mit.edu	37	14	39716361	39716361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:39716361G>A	uc001wux.3	+	3	777	c.583G>A	c.(583-585)Gac>Aac	p.D195N	MIA2_uc010amy.2_Missense_Mutation_p.D126N	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	195						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TGAATCAAAAGACTGGGAAGA	0.418000														44			15		0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74519807	74519807	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:74519807C>T	uc003php.3	+	26	3887	c.3456C>T	c.(3454-3456)caC>caT	p.H1152H	CD109_uc003phq.3_Silent_p.H1152H|CD109_uc010kba.3_Silent_p.H1075H	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	1152						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCTCTCACACTTCTTACAAT	0.478000														11			11		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697617	17697617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:17697617G>A	uc002rcl.1	-	0	2090	c.2066C>T	c.(2065-2067)cCc>cTc	p.P689L	RAD51AP2_uc010exn.1_Missense_Mutation_p.P680L	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	689										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CATTAAAAGGGGAATTTTTTC	0.294000														63			11		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321612	56321612	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56321612G>A	uc010ygf.2	-	4	1075	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	NLRP11_uc002qlz.3_Missense_Mutation_p.R23C|NLRP11_uc002qmb.3_Missense_Mutation_p.R23C|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	122							ATP binding	p.R122C(2)|p.R122H(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GAAACGTCACGAAAAAATTTA	0.383000														25			7		0	0	1	0	0
ATG7	10533	broad.mit.edu	37	3	11389371	11389371	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:11389371C>T	uc003bwc.3	+	11	1263	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	ATG7_uc003bwd.3_Silent_p.I382I|ATG7_uc011aum.2_Silent_p.I343I	NM_006395	NP_006386	O95352	ATG7_HUMAN	Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA.	382					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TGAGACACATCACATTTGTGG	0.478000														46			11		0	0	1	0	0
DDX47	51202	broad.mit.edu	37	12	12976239	12976239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:12976239C>T	uc001rav.3	+	9	1334	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	DDX47_uc009zhw.1_Missense_Mutation_p.P246S|DDX47_uc001rax.3_Missense_Mutation_p.P246S|DDX47_uc001ray.3_Missense_Mutation_p.P246S	NM_016355	NP_057439	Q9H0S4	DDX47_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 (DDX47), transcript variant 1, mRNA.	246	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TATTTTTATTCCCTCTAAATT	0.358000														36			12		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106347451	106347451	+	Splice_Site	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106347451T>G	uc021ser.1	-	3971		c.59139_splice	c.e3971-1							Parts of antibodies, mostly variable regions.																		CCTCCTGGTTTGTTTGGGGGC	0.597000														43			32		0	0	1	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1605732	1605732	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:1605732C>A	uc001ltu.1	-	0	782	c.748G>T	c.(748-750)Ggg>Tgg	p.G250W	MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	Homo sapiens keratin associated protein 5-1 (KRTAP5-1), mRNA.	250	8 X 4 AA repeats of C-C-X-P.					keratin filament		p.G250W(2)		endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|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;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGGATGACCCACAGCCTGAG	0.592000														58			55		3.4597e-24	3.50422e-24	1	1	0
IWS1	55677	broad.mit.edu	37	2	128262908	128262908	+	Missense_Mutation	SNP	G	A	A	rs3832144		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:128262908G>A	uc002ton.2	-	2	874	c.571C>T	c.(571-573)Cca>Tca	p.P191S	IWS1_uc010yzl.1_Non-coding_Transcript|IWS1_uc010fma.2_Non-coding_Transcript	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	191	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TGGTGCCTTGGGGGTTCCTCA	0.483000														121			57		0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999004	27999004	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:27999004G>A	uc004dbx.1	-	0	563	c.448C>T	c.(448-450)Ctg>Ttg	p.L150L		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	150										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GATCGGGGCAGGGCAGATGTC	0.567000														6			6		0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161128747	161128747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:161128747G>A	uc003lyu.2	+	8	1668	c.1330G>A	c.(1330-1332)Gat>Aat	p.D444N	GABRA6_uc003lyv.2_Missense_Mutation_p.D215N	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	444					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTTTCCAAAGATACAATGGA	0.383000										TCGA Ovarian(5;0.080)				18			27		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36333363	36333363	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:36333363C>T	uc002oby.3	-	17	2580	c.2424G>A	c.(2422-2424)ctG>ctA	p.L808L		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	808	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				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)			CAGCCTGGGCCAGTTTGGCAT	0.592000														112			21		0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74104737	74104737	+	Nonsense_Mutation	SNP	C	T	T	rs147467609	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:74104737C>T	uc003pgw.3	+	0	453	c.109C>T	c.(109-111)Cga>Tga	p.R37*	OOEP_uc003pgv.4_5'UTR|DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	37						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GGAGTTGAATCGAACAGGTCC	0.657000														58			24		0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167184936	167184936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:167184936C>T	uc003fes.1	-	2	486	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	SERPINI2_uc003fer.1_Missense_Mutation_p.E129K|SERPINI2_uc003fet.1_Missense_Mutation_p.E129K	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	129					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TGAAAAAATTCCTTGTTGCCA	0.373000														37			9		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72138208	72138208	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:72138208C>T	uc001xms.3	+	7	2989	c.2628C>T	c.(2626-2628)tgC>tgT	p.C876C	SIPA1L1_uc001xmt.3_Silent_p.C876C|SIPA1L1_uc001xmu.3_Silent_p.C876C|SIPA1L1_uc001xmv.3_Silent_p.C876C|SIPA1L1_uc010ttm.2_Silent_p.C351C	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	876					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AACTAGACTGCCTTTTAGGGA	0.483000														101			20		0	0	1	0	0
OR51B6	390058	broad.mit.edu	37	11	5373381	5373381	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5373381C>T	uc010qzb.2	+	0	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTTTTTCTCCTACATTTTG	0.453000														60			18		0	0	1	0	0
SLC14A1	6563	broad.mit.edu	37	18	43311028	43311028	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:43311028C>T	uc010dnk.3	+	4	590	c.368C>T	c.(367-369)tCc>tTc	p.S123F	SLC14A1_uc002lbi.4_Intron|SLC14A1_uc010xcn.2_Missense_Mutation_p.S67F|SLC14A1_uc002lbf.4_Missense_Mutation_p.S67F|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_5'UTR|SLC14A1_uc002lbh.4_Intron|SLC14A1_uc002lbj.4_Missense_Mutation_p.S123F|SLC14A1_uc002lbk.4_Missense_Mutation_p.S67F|SLC14A1_uc021ujg.1_Missense_Mutation_p.S67F	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	67						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CGGGGCATATCCCAAGTGGTG	0.527000														2			35		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262060	45262060	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:45262060G>T	uc003jok.3	-	7	2661	c.2636C>A	c.(2635-2637)cCa>cAa	p.P879Q		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	879						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.D878E(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTCTGCGTCTGGGTCTGTGTT	0.488000														49			92		6.00078e-37	6.08721e-37	1	1	0
OR2T8	343172	broad.mit.edu	37	1	248084466	248084466	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248084466G>A	uc010pzc.2	+	0	147	c.147G>A	c.(145-147)tgG>tgA	p.W49*		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	49			W -> R (in dbSNP:rs11204564).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H48H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGATTCACTGGGACCACCGGC	0.527000														56			49		0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45670779	45670779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:45670779C>T	uc002zeg.1	-	9	1307	c.823G>A	c.(823-825)Ggc>Agc	p.G275S	DNMT3L_uc002zeh.1_Missense_Mutation_p.G275S	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	275					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CTGGGGCTGCCTGGCTTGGGC	0.662000														26			6		0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147130363	147130363	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:147130363C>G	uc003ewe.3	+	1	1760	c.1041C>G	c.(1039-1041)agC>agG	p.S347R		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	347					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S346G(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CTAACAGCAGCGACCGCAAGA	0.532000														45			16		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100393	168100393	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:168100393G>A	uc002udx.3	+	8	2580	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E656K|XIRP2_uc010fpq.3_Missense_Mutation_p.E609K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	656					actin cytoskeleton organization	cell junction	actin binding	p.E831K(2)		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						CATTGAAAAGGAAAAAATAAT	0.388000														56			15		0	0	1	0	0
LOC729156	729156	broad.mit.edu	37	7	66296199	66296199	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:66296199C>T	uc003tvj.1	-	6		c.668G>A								Homo sapiens GTF2I repeat domain containing 1-like (LOC729156), non-coding RNA.																		GCATCTCCATCCCACAATCAG	0.567000														50			13		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21818633	21818633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:21818633C>T	uc003svc.3	+	57	9446	c.9415C>T	c.(9415-9417)Cat>Tat	p.H3139Y		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3139	Stalk (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						ACTGAGAAATCATGATGCCGA	0.488000									Kartagener syndrome					24			46		0	0	1	0	0
TFPI	7035	broad.mit.edu	37	2	188368424	188368424	+	Silent	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:188368424G>T	uc002upy.3	-	1	367	c.72C>A	c.(70-72)gcC>gcA	p.A24A	TFPI_uc002uqa.2_Silent_p.A24A|TFPI_uc002uqb.2_Silent_p.A24A	NM_006287	NP_006278	P10646	TFPI1_HUMAN	Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA.	24					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	CATTAAGAGGGGCAGGGGCAA	0.363000														43			18		2.5808e-16	2.60513e-16	1	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68248109	68248109	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:68248109G>A	uc001xka.2	-	21	4649	c.4510C>T	c.(4510-4512)Caa>Taa	p.Q1504*	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Nonsense_Mutation_p.Q1504*	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1504					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGTCCTTCTTGGACAGCCGTG	0.552000														124			36		0	0	1	0	0
MAS1L	116511	broad.mit.edu	37	6	29455668	29455668	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29455668C>T	uc011dlq.2	-	0	12	c.12G>A	c.(10-12)ggG>ggA	p.G4G		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	4						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						AGCAAATTTTCCCCCAGACCA	0.562000														27			29		0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37951818	37951818	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:37951818G>A	uc003tfo.4	-	3	1080	c.694C>T	c.(694-696)Cga>Tga	p.R232*		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	Homo sapiens secreted frizzled-related protein 4 (SFRP4), mRNA.	232	NTR.				Wnt receptor signaling pathway|brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of JNK cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R232Q(2)|p.R232R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						ACTTGAGTTCGAGGGATGGGT	0.473000														150			23		0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58453234	58453234	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58453234C>T	uc002qqu.3	-	2	1177	c.942G>A	c.(940-942)caG>caA	p.Q314Q	ZNF256_uc010euj.3_Silent_p.Q161Q	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	Homo sapiens zinc finger protein 256 (ZNF256), mRNA.	314					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TATGAACTCTCTGATGTATAA	0.403000														48			11		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1029144	1029144	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:1029144G>A	uc001lsw.2	-	10	1333	c.1282C>T	c.(1282-1284)Cag>Tag	p.Q428*		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	428	VWFD 2.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCGGGAAGCTGGGGGCTCTGC	0.687000														12			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056254	9056254	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9056254C>T	uc002mkp.3	-	2	31396	c.31192G>A	c.(31192-31194)Gat>Aat	p.D10398N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10400	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTCTGGTATCCAAAATGGGT	0.493000														140			48		0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52812994	52812994	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:52812994G>A	uc003dfs.3	+	3	372	c.342G>A	c.(340-342)aaG>aaA	p.K114K	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_5'UTR|ITIH1_uc021wzg.1_5'Flank|ITIH1_uc021wzh.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	114	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GAGACATAAAGGACAAGGTGA	0.542000														50			17		0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436970	248436970	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248436970C>T	uc010pzi.2	-	0	147	c.147G>A	c.(145-147)tgG>tgA	p.W49*		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H48S(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCGGTGGTCCCAGTGAATCA	0.522000														107			11		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179495008	179495008	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179495008T>C	uc021vsy.1	-	187	36762	c.36537A>G	c.(36535-36537)caA>caG	p.Q12179Q	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.Q5874Q|TTN_uc021vta.1_Silent_p.Q5807Q|TTN_uc021vtb.1_Silent_p.Q5682Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13106	Ig-like 81.						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)			CATTGGCAGCTTGGAAATCCA	0.398000														20			34		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247597430	247597430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:247597430G>A	uc001icr.3	+	6	2491	c.2353G>A	c.(2353-2355)Gag>Aag	p.E785K	NLRP3_uc001ics.3_Missense_Mutation_p.E785K|NLRP3_uc001icu.3_Missense_Mutation_p.E785K|NLRP3_uc001icw.3_Missense_Mutation_p.E728K|NLRP3_uc001icv.3_Missense_Mutation_p.E728K|NLRP3_uc010pyw.2_Intron	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	785					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCTCTCGCATGAGTGCTGCTT	0.557000														60			93		0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104577453	104577453	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:104577453G>A	uc003hxe.1	-	2	927	c.786C>T	c.(784-786)atC>atT	p.I262I		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	262						integral to plasma membrane	tachykinin receptor activity	p.I262I(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TAATACCCATGATGAGCAATG	0.373000														56			59		0	0	1	0	0
FAM131B	9715	broad.mit.edu	37	7	143054508	143054508	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:143054508C>T	uc010lpa.3	-	5	619	c.475G>A	c.(475-477)Gag>Aag	p.E159K	FAM131B_uc010loz.3_Missense_Mutation_p.E99K|FAM131B_uc003wct.3_Missense_Mutation_p.E131K|FAM131B_uc003wcu.4_Missense_Mutation_p.E131K	NM_001031690	NP_055505	Q86XD5	F131B_HUMAN	Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA.	131										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GCAAACTGCTCCATGACGCCT	0.512000														49			24		0	0	1	0	0
NXF2	56001	broad.mit.edu	37	X	101581400	101581400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:101581400C>T	uc004eiv.4	+	33	3725	c.1853C>T	c.(1852-1854)cCc>cTc	p.P618L	NXF2_uc022cau.1_Missense_Mutation_p.P618L|NXF2_uc004eiw.4_3'UTR|NXF2_uc004eix.4_Missense_Mutation_p.P618L	NM_001099686	NP_001093156	Q9GZY0	NXF2_HUMAN	Homo sapiens nuclear RNA export factor 2B (NXF2B), mRNA.	618	TAP-C.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding			endometrium(2)|lung(2)	4						GGCAAGATCCCCGCAGAGGCC	0.507000														88			16		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280124	152280124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152280124G>A	uc001ezu.1	-	2	7274	c.7238C>T	c.(7237-7239)tCt>tTt	p.S2413F		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2413	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTAGAGGAAAGACCCTGAACG	0.607000									Ichthyosis					186			109		0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287427	46287427	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:46287427C>T	uc001van.1	+	2	347	c.267C>T	c.(265-267)tcC>tcT	p.S89S	SPERT_uc001vao.2_Silent_p.S53S	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	89						cytoplasmic membrane-bounded vesicle		p.S89F(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GCCAGCACTCCTATCCACTGA	0.682000														19			37		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93969189	93969189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:93969189G>A	uc003poe.3	-	9	2048	c.1807C>T	c.(1807-1809)Cca>Tca	p.P603S	EPHA7_uc003pof.3_Missense_Mutation_p.P598S|EPHA7_uc011eac.2_Intron	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	603						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTGGTGCCTGGAAATTTAACT	0.423000														21			22		0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18846126	18846126	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:18846126G>A	uc002zoe.3	+	4		c.2488G>A			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		ACTGGCGCACGATGTAGGGCA	0.617000														42			28		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283351	152283351	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152283351G>A	uc001ezu.1	-	2	4047	c.4011C>T	c.(4009-4011)tcC>tcT	p.S1337S	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1337	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S1336F(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCATGAGAGGAAGACTCTG	0.547000									Ichthyosis					271			168		0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42608391	42608391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:42608391G>A	uc003bcj.1	-	0	3055	c.2921C>T	c.(2920-2922)tCc>tTc	p.S974F	TCF20_uc003bck.1_Missense_Mutation_p.S974F	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	974					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GTCTGAAAGGGAATCATGGGT	0.582000														91			21		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34038290	34038290	+	Splice_Site	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:34038290A>T	uc001bxm.1	-	50	7754	c.7577_splice	c.e50-1	p.A2526_splice	CSMD2_uc001bxn.1_Splice_Site_p.A2528_splice	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2528	Sushi 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACAGGAAAGAGCTAGCAAAA	0.453000														4			25		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138579238	138579238	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:138579238G>A	uc011kql.2	-	9	3931	c.3882C>T	c.(3880-3882)tcC>tcT	p.S1294S	KIAA1549_uc011kqi.2_Silent_p.S78S|KIAA1549_uc011kqk.2_Silent_p.S78S|KIAA1549_uc011kqj.2_Silent_p.S1294S	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1294						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGTTGCTCTGGGATTCCGGAG	0.502000			O	BRAF	pilocytic astrocytoma									47			18		0	0	1	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103474477	103474477	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:103474477C>T	uc001vpu.2	+	4	991	c.869C>T	c.(868-870)cCt>cTt	p.P290L	BIVM-ERCC5_uc001vps.3_Missense_Mutation_p.P290L|BIVM-ERCC5_uc010agc.3_Missense_Mutation_p.P61L|BIVM-ERCC5_uc001vpv.3_Missense_Mutation_p.P61L	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	261					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										CTATATAAGCCTCATGGGAAG	0.368000														32			15		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91659268	91659268	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:91659268G>A	uc003ulg.3	+	14	4433	c.4208G>A	c.(4207-4209)gGa>gAa	p.G1403E	AKAP9_uc003ule.2_Missense_Mutation_p.G1415E|AKAP9_uc003ulf.3_Missense_Mutation_p.G1403E|AKAP9_uc003uli.3_Missense_Mutation_p.G1028E	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1415					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATGTACCCTGGAAGTTGTGTG	0.269000			T	BRAF	papillary thyroid									50			24		0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433486	55433486	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55433486C>T	uc010rik.2	+	0	844	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CATGTTAAATCCCTTGATCTA	0.458000														26			23		0	0	1	0	0
TMEM161B	153396	broad.mit.edu	37	5	87498844	87498844	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:87498844G>A	uc003kjc.3	-	8	974	c.849C>T	c.(847-849)ctC>ctT	p.L283L	TMEM161B_uc011cty.2_Silent_p.L272L|TMEM161B_uc010jax.3_Non-coding_Transcript|TMEM161B_uc011ctz.1_Silent_p.L150L|TMEM161B_uc011ctx.2_Silent_p.L101L	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	Homo sapiens transmembrane protein 161B (TMEM161B), mRNA.	283						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		GTTTTACCCAGAGCAGAACCA	0.363000														45			21		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802432	185802432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:185802432G>A	uc002uph.3	+	3	2903	c.2309G>A	c.(2308-2310)cGa>cAa	p.R770Q		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	770						intracellular	zinc ion binding	p.R770Q(4)|p.R770*(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGATTCTATCGAAAACGTAGA	0.333000														33			10		0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160229782	160229782	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:160229782C>T	uc003qsy.1	+	7	612	c.573C>T	c.(571-573)gcC>gcT	p.A191A	PNLDC1_uc003qsx.1_Silent_p.A180A	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	180						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCTTCCAGGCCTTTGAGGTCC	0.597000														10			5		0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150911719	150911719	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:150911719C>T	uc004fey.1	+	6	968	c.744C>T	c.(742-744)aaC>aaT	p.N248N		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	248					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGCGCTTCAACCGCCTGCTGC	0.532000														7			58		0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	34046486	34046486	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:34046486G>A	uc003and.4	-	3	854	c.275C>T	c.(274-276)tCc>tTc	p.S92F	LARGE_uc003ane.4_Missense_Mutation_p.S92F|LARGE_uc010gwp.3_Missense_Mutation_p.S92F|LARGE_uc011ame.2_Missense_Mutation_p.S24F|LARGE_uc011amf.2_Missense_Mutation_p.S92F	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	92					N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TCGGCGATGGGATGGGGCTCG	0.687000														49			39		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43543182	43543182	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:43543182C>T	uc002zag.1	+	15	3453	c.3453C>T	c.(3451-3453)tcC>tcT	p.S1151S	UMODL1_uc002zad.1_Silent_p.S951S|UMODL1_uc002zae.1_Silent_p.S1079S|UMODL1_uc002zaf.1_Silent_p.S1023S|UMODL1_uc002zal.1_5'UTR	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	1023	ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GCCACCCCTCCTGCAACGTGA	0.617000														38			7		0	0	1	0	0
USP49	25862	broad.mit.edu	37	6	41766657	41766657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:41766657G>A	uc003ori.3	-	6	1903	c.1681C>T	c.(1681-1683)Cgt>Tgt	p.R561C		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.	561					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGATGATTACGGCCAGACCAC	0.418000														61			12		0	0	1	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70940115	70940115	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:70940115C>T	uc001jpe.1	+	0	123	c.68C>T	c.(67-69)gCc>gTc	p.A23V	SUPV3L1_uc010qjd.1_5'UTR	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	Homo sapiens suppressor of var1, 3-like 1 (S. cerevisiae) (SUPV3L1), mRNA.	23					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CACCGGGCAGCCATCTGCTCT	0.682000														24			14		0	0	1	0	0
ZNF574	64763	broad.mit.edu	37	19	42585084	42585084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:42585084C>T	uc002osk.4	+	1	2831	c.2596C>T	c.(2596-2598)Cgt>Tgt	p.R866C	ZNF574_uc002osm.4_Missense_Mutation_p.R776C|ZNF574_uc021uva.1_Missense_Mutation_p.R776C	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	Homo sapiens zinc finger protein 574 (ZNF574), mRNA.	776					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CAAAGCGTTCCGTCAGAGTAC	0.602000														134			34		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57602525	57602525	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:57602525C>T	uc001snd.3	+	77	12536	c.12070C>T	c.(12070-12072)Ccc>Tcc	p.P4024S		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	4024					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGGCAACCACCCCAAGATTGA	0.647000														53			12		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886490	228886490	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:228886490C>A	uc002vpq.2	-	5	681	c.634G>T	c.(634-636)Gaa>Taa	p.E212*	SPHKAP_uc002vpp.2_Nonsense_Mutation_p.E212*|SPHKAP_uc010zlx.1_Nonsense_Mutation_p.E212*	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	212						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)		AGAAAGTCTTCCTCGATTGAA	0.478000														24			20		8.00594e-06	8.02693e-06	1	1	0
JUN	3725	broad.mit.edu	37	1	59248101	59248101	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:59248101C>T	uc001cze.3	-	0	1685	c.642G>A	c.(640-642)caG>caA	p.Q214Q	LOC100131060_uc001czf.2_5'Flank|LOC100131060_uc010oop.1_5'Flank	NM_002228	NP_002219	P05412	JUN_HUMAN	Homo sapiens jun proto-oncogene (JUN), mRNA.	214					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|SMAD protein import into nucleus|SMAD protein signal transduction|Toll signaling pathway|innate immune response|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding 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|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	GCACGGGCATCTGCTGGGGCA	0.741000			A		sarcoma									1			15		0	0	1	0	0
ETV4	2118	broad.mit.edu	37	17	41610061	41610061	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:41610061C>T	uc002idw.3	-	7	920	c.792G>A	c.(790-792)acG>acA	p.T264T	ETV4_uc002idv.3_5'Flank|ETV4_uc010wih.2_Silent_p.T210T|ETV4_uc010czh.3_Silent_p.T263T|ETV4_uc010wii.2_Silent_p.T225T|ETV4_uc002idx.3_Silent_p.T264T|ETV4_uc010wij.2_Silent_p.T225T	NM_001986	NP_001977	P43268	ETV4_HUMAN	Homo sapiens ets variant 4 (ETV4), transcript variant 1, mRNA.	264					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		AGGCGAAGTCCGTCTGTTCCT	0.572000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""									86			19		0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210761279	210761279	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:210761279C>T	uc010psr.2	+	8	1189	c.1084C>T	c.(1084-1086)Ctg>Ttg	p.L362L	HHAT_uc009xcx.3_Silent_p.L361L|HHAT_uc010psq.2_Silent_p.L224L|HHAT_uc009xcy.3_Silent_p.L296L|HHAT_uc010pss.2_Silent_p.L316L|HHAT_uc010pst.2_Silent_p.L298L|HHAT_uc001hhz.4_Silent_p.L361L|HHAT_uc021pip.1_Silent_p.L361L|HHAT_uc010psu.2_Silent_p.L296L|HHAT_uc001hia.4_Silent_p.L51L	NM_001170587	NP_001164058	Q5VTY9	HHAT_HUMAN	Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.	361					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CCAGCATGGCCTGCTGGGGAC	0.562000														45			32		0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69334625	69334625	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:69334625T>C	uc003hdz.4	+	3	351	c.287T>C	c.(286-288)tTa>tCa	p.L96S		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	96	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.P95Q(1)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AAATCTCCATTAAGGGAAGAA	0.303000														14			71		0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32137751	32137751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:32137751C>T	uc001rks.3	+	3	4276	c.3862C>T	c.(3862-3864)Ccc>Tcc	p.P1288S		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	1288										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			TAAACTAAATCCCTTGCAAAA	0.343000														16			18		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594115	179594115	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179594115G>A	uc021vsy.1	-	60	15261	c.15036C>T	c.(15034-15036)ctC>ctT	p.L5012L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L1673L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5939	Ig-like 30.						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)			TGGTTATATGGAGGTTAAACA	0.468000														68			25		0	0	1	0	0
CARM1	10498	broad.mit.edu	37	19	11018788	11018788	+	Silent	SNP	G	A	A	rs141502552	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:11018788G>A	uc002mpz.3	+	2	546	c.420G>A	c.(418-420)cgG>cgA	p.R140R	CARM1_uc010dxn.3_Non-coding_Transcript	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA.	140					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCAGCGAGCGGACGGAGGAGT	0.637000														84			28		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883992	228883992	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:228883992C>T	uc002vpq.2	-	6	1625	c.1578G>A	c.(1576-1578)tcG>tcA	p.S526S	SPHKAP_uc002vpp.2_Silent_p.S526S|SPHKAP_uc010zlx.1_Silent_p.S526S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	526						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)		GGGGAAAGTTCGAGACCACTT	0.502000														11			15		0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17353332	17353332	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:17353332C>T	uc002dfa.3	-	2	511	c.426G>A	c.(424-426)ccG>ccA	p.P142P		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	142					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTTTCTCTTTCGGCCGATGAG	0.478000														63			24		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98551047	98551047	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:98551047C>T	uc003upp.3	+	38	5909	c.5700C>T	c.(5698-5700)atC>atT	p.I1900I	TRRAP_uc011kis.2_Silent_p.I1882I|TRRAP_uc003upr.3_Silent_p.I1599I	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1900					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACAAGAAGATCGTCCTGCAGG	0.577000														21			28		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87196275	87196275	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:87196275C>T	uc003uiz.2	-	6	849	c.356G>A	c.(355-357)aGt>aAt	p.S119N	ABCB1_uc011khc.2_Intron	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	119	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			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)	ACCAATTCCACTGTAATAATA	0.393000														32			22		0	0	1	0	0
CD276	80381	broad.mit.edu	37	15	73996051	73996051	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:73996051C>T	uc002avv.1	+	4	1019	c.785C>T	c.(784-786)aCc>aTc	p.T262I	CD276_uc010bjd.1_Missense_Mutation_p.T116I|CD276_uc002avu.1_Missense_Mutation_p.T262I|CD276_uc002avw.1_Intron|CD276_uc010ulb.1_Missense_Mutation_p.T208I	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.	262	Ig-like V-type 2.				T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						CTAGTGGGCACCGATGCCACC	0.662000														32			6		0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146807040	146807040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:146807040C>T	uc003ikn.3	-	3	1585	c.1537G>A	c.(1537-1539)Gga>Aga	p.G513R	ZNF827_uc003ikm.3_Missense_Mutation_p.G513R|ZNF827_uc010iox.3_Missense_Mutation_p.G163R	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CCAGCCCCTCCCTGGCTAGTC	0.597000														86			18		0	0	1	0	0
MRPS31	10240	broad.mit.edu	37	13	41345346	41345346	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:41345346C>T	uc001uxm.4	-	1	1	c.-74_splice	c.e1-1			NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.							mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		CCCGCCCTCTCTTCCGCTTCC	0.637000														4			9		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71286745	71286745	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:71286745C>T	uc001swi.2	-	1	485	c.71G>A	c.(70-72)gGa>gAa	p.G24E		NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	24					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ATCATTGTTTCCTGAAAAGCA	0.383000														42			29		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57734665	57734665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:57734665G>A	uc010bfw.3	+	4	1985	c.1792G>A	c.(1792-1794)Gga>Aga	p.G598R	CGNL1_uc002aeg.3_Missense_Mutation_p.G598R	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	598						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GAGCGCCCAAGGAAATAACCA	0.383000														58			9		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2140797	2140797	+	Silent	SNP	G	A	A	rs2855367		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:2140797G>A	uc002cos.1	-	43	12225	c.12016C>T	c.(12016-12018)Cta>Tta	p.L4006L	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.L4005L|MIR1225_uc021tap.1_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	4006				QL -> HV (in Ref. 1; AAC50128).	calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACGAAGCGTAGCTGCTGGGCA	0.662000														31			16		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238258824	238258824	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:238258824C>T	uc002vwl.2	-	27	7130	c.6845G>A	c.(6844-6846)gGa>gAa	p.G2282E	COL6A3_uc002vwo.2_Missense_Mutation_p.G2076E|COL6A3_uc010znj.1_Missense_Mutation_p.G1675E|COL6A3_uc002vwp.1_Missense_Mutation_p.G103E	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2282	Collagen-like 4.|Triple-helical region.				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)		CCCGATTCCTCCTTTTGGTCC	0.607000														32			8		0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35477623	35477623	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:35477623C>T	uc003okv.4	-	5	594	c.582G>A	c.(580-582)atG>atA	p.M194I	TULP1_uc003okw.4_Missense_Mutation_p.M141I|TULP1_uc021yyx.1_Missense_Mutation_p.M194I|TULP1_uc021yyy.1_Missense_Mutation_p.M194I	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	194					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						TGGTCTTTCTCATCTTGGTCC	0.572000														187			39		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4169671	4169671	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:4169671C>T	uc003smx.3	+	26	4210	c.4071C>T	c.(4069-4071)acC>acT	p.T1357T	SDK1_uc010kso.3_Silent_p.T633T|SDK1_uc003smy.3_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1357	Fibronectin type-III 7.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGGCGTTCACCCGCATCGGGA	0.672000														118			12		0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29079863	29079863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29079863C>T	uc011dll.2	+	0	196	c.196C>T	c.(196-198)Ctt>Ttt	p.L66F		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GTACTTCTTCCTTTCAAACCT	0.473000														148			73		0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29796516	29796516	+	Silent	SNP	G	A	A	rs113386443		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29796516G>A	uc003nnw.2	+	3	718	c.540G>A	c.(538-540)agG>agA	p.R180R	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Silent_p.R152R|HLA-G_uc003raj.3_Silent_p.R185R|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc021ytv.1_Intron|HLA-G_uc003ran.1_5'Flank	NM_002127	NP_002118	P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA.	180	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CTGAACAAAGGAGAGCCTACC	0.652000														40			55		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120510782	120510782	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:120510782G>A	uc001eik.3	-	6	1479	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P	NOTCH2_uc001eil.3_Silent_p.P394P|NOTCH2_uc021osy.1_Silent_p.P355P|NOTCH2_uc001eim.4_Silent_p.P311P	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	394	EGF-like 10.				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P394P(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCCATTTAGGGGGTTGGTGT	0.517000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome		OREG0013734	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		506			92		0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184064779	184064779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:184064779C>T	uc003foi.3	-	22	2570	c.2446G>A	c.(2446-2448)Gac>Aac	p.D816N	CLCN2_uc003foh.3_Missense_Mutation_p.D305N|CLCN2_uc010hya.2_Missense_Mutation_p.D799N|CLCN2_uc011brl.2_Intron|CLCN2_uc011brm.2_Missense_Mutation_p.D772N	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	816	CBS 2.					chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TAAGCATGGTCCACTCCCAGC	0.512000														125			37		0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9541476	9541476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:9541476C>T	uc002qzh.2	+	26	3237	c.2897C>T	c.(2896-2898)tCc>tTc	p.S966F	ASAP2_uc002qzi.2_Missense_Mutation_p.S921F	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	966	SH3.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CTCACCTTCTCCGAGGGGGAT	0.602000														71			15		0	0	1	0	0
GALM	130589	broad.mit.edu	37	2	38958934	38958934	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:38958934C>T	uc002rqy.3	+	5	1086	c.834C>T	c.(832-834)gtC>gtT	p.V278V		NM_138801	NP_620156	Q96C23	GALM_HUMAN	Homo sapiens galactose mutarotase (aldose 1-epimerase) (GALM), mRNA.	278					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				AGCCCGGGGTCCAGTTTTACA	0.527000														133			19		0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24846501	24846501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:24846501C>T	uc003sxf.3	-	20	2743	c.2338G>A	c.(2338-2340)Gag>Aag	p.E780K	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Missense_Mutation_p.E744K|OSBPL3_uc003sxh.3_Missense_Mutation_p.E749K|OSBPL3_uc003sxi.3_Missense_Mutation_p.E713K	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	780					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TAGTATTGCTCGTAGCCTTTC	0.378000														144			11		0	0	1	0	0
PTGER2	5732	broad.mit.edu	37	14	52793975	52793975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:52793975G>A	uc001wzr.3	+	1	1131	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K		NM_000956	NP_000947	P43116	PE2R2_HUMAN	Homo sapiens prostaglandin E receptor 2 (subtype EP2), 53kDa (PTGER2), mRNA.	294						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	TTCCCGAAAGGAAAAATGGGA	0.398000														53			7		0	0	1	0	0
EGFL6	25975	broad.mit.edu	37	X	13637345	13637345	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:13637345C>T	uc004cvj.3	+	8	1453	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F	EGFL6_uc004cvi.3_Missense_Mutation_p.S389F|EGFL6_uc011mik.1_Missense_Mutation_p.S290F	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	389					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						GCGCTAACTTCCAAACTGGAA	0.378000														3			31		0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179520354	179520354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:179520354G>A	uc001gmq.4	-	7	1191	c.1106C>T	c.(1105-1107)cCt>cTt	p.P369L	AXDND1_uc001gmo.3_Intron|AXDND1_uc009wxg.3_Intron|AXDND1_uc021pfj.1_Intron|AXDND1_uc009wxh.3_Intron|NPHS2_uc009wxi.3_Missense_Mutation_p.P301L|AXDND1_uc001gmr.3_Non-coding_Transcript	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA.	369					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						TGGCTCAACAGGTTTGGAAGG	0.468000														74			57		0	0	1	0	0
RETNLB	84666	broad.mit.edu	37	3	108474705	108474705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:108474705C>T	uc003dxh.2	-	2	354	c.256G>A	c.(256-258)Gat>Aat	p.D86N		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	86					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						AGCTGAACATCCCACGAACCA	0.572000														23			47		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99723978	99723978	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:99723978C>T	uc001yga.3	-	1	524	c.257G>A	c.(256-258)gGt>gAt	p.G86D	BCL11B_uc001ygb.3_Missense_Mutation_p.G86D	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	86						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)		ATAGCAGGCACCCAAGCTGCC	0.587000			T	TLX3	T-ALL									61			8		0	0	1	0	0
CCT6B	10693	broad.mit.edu	37	17	33259390	33259390	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:33259390G>A	uc002hig.3	-	10	1459	c.1343C>T	c.(1342-1344)cCc>cTc	p.P448L	CCT6B_uc010ctg.3_Missense_Mutation_p.P411L|CCT6B_uc010wcc.2_Missense_Mutation_p.P403L	NM_006584	NP_006575	Q92526	TCPW_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 6B (zeta 2) (CCT6B), transcript variant 1, mRNA.	448					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TTGTACCTTGGGAATAATGAG	0.388000														125			21		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834455	61834455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:61834455C>T	uc001jky.3	-	36	6522	c.6184G>A	c.(6184-6186)Gag>Aag	p.E2062K	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.	2062				ER -> GG (in Ref. 1; AAA64834).	establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			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						TTCTGTCTCTCCTCACCATCC	0.383000														56			23		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882684	228882684	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:228882684C>T	uc002vpq.2	-	6	2933	c.2886G>A	c.(2884-2886)tgG>tgA	p.W962*	SPHKAP_uc002vpp.2_Nonsense_Mutation_p.W962*|SPHKAP_uc010zlx.1_Nonsense_Mutation_p.W962*	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	962						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)		TCCCTCTTTTCCATGCACAAA	0.512000														32			23		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55177876	55177876	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55177876G>A	uc002qgp.3	+	8	1339	c.977G>A	c.(976-978)gGa>gAa	p.G326E	LILRB4_uc002qgq.3_Missense_Mutation_p.G326E|LILRB4_uc010ert.3_Missense_Mutation_p.G367E|LILRB4_uc010eru.3_Missense_Mutation_p.G355E	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	326						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GACGTCCAGGGAGAAAACTTC	0.587000														37			10		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51902232	51902232	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:51902232G>A	uc002iua.2	+	0	1994	c.1838G>A	c.(1837-1839)gGg>gAg	p.G613E	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	613					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.G613W(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						ACAATTTCAGGGAAGGGATCT	0.423000														67			34		0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50901136	50901136	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:50901136G>A	uc003blh.3	-	17	2174	c.1979C>T	c.(1978-1980)cCg>cTg	p.P660L	SBF1_uc011arx.2_Missense_Mutation_p.P324L|SBF1_uc003bli.2_Missense_Mutation_p.P661L	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	660					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGTCACCCCCGGGCTCAGCTT	0.632000														16			9		0	0	1	0	0
DUXA	503835	broad.mit.edu	37	19	57666741	57666741	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:57666741C>T	uc002qoa.1	-	5	484	c.439_splice	c.e5-1	p.I147_splice		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	147						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		GGAACCAAATCTAAGTGGTAA	0.378000														31			8		0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2776459	2776459	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:2776459G>A	uc002wgu.3	-	10	1580	c.1506C>T	c.(1504-1506)ctC>ctT	p.L502L	CPXM1_uc010gas.3_Intron	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	502					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						AGGACACCACGAGCTCACCCC	0.607000														73			22		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70933794	70933794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:70933794C>T	uc001swb.4	-	21	4979	c.4949G>A	c.(4948-4950)cGa>cAa	p.R1650Q	PTPRB_uc010sto.2_Missense_Mutation_p.R1560Q|PTPRB_uc010stp.2_Missense_Mutation_p.R1560Q|PTPRB_uc001swc.4_Missense_Mutation_p.R1868Q|PTPRB_uc001swa.4_Missense_Mutation_p.R1780Q	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1650					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)			GGGTCTTTCTCGACCATGGCT	0.433000														24			14		0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160853229	160853229	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:160853229G>A	uc001fxc.3	-	2	262	c.146C>T	c.(145-147)cCt>cTt	p.P49L		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	49	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	p.P49H(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AAATGCACTAGGACATTCGTC	0.408000														170			15		0	0	1	0	0
C6orf70	55780	broad.mit.edu	37	6	170176089	170176089	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:170176089C>G	uc003qxg.1	+	14	1481	c.1448C>G	c.(1447-1449)aCg>aGg	p.T483R	C6orf70_uc011ehb.1_Missense_Mutation_p.T357R|C6orf70_uc003qxh.1_Missense_Mutation_p.T483R|C6orf70_uc010kky.1_Missense_Mutation_p.T357R|C6orf70_uc003qxi.1_Missense_Mutation_p.T131R	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	Homo sapiens chromosome 6 open reading frame 70 (C6orf70), mRNA.	483						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		ACAAAAATGACGGATGAGCTG	0.378000														19			11		0	0	1	0	0
C11orf70	85016	broad.mit.edu	37	11	101946634	101946634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:101946634G>A	uc001pgp.3	+	4	499	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	C11orf70_uc001pgo.3_Silent_p.*100*|C11orf70_uc001pgq.3_Missense_Mutation_p.E118K	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA.	156								p.E118*(1)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AGAAAAATATGAAATATTCAG	0.343000														17			9		0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69403478	69403478	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:69403478C>T	uc021xov.1	-	5	1501	c.1458G>A	c.(1456-1458)tgG>tgA	p.W486*		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	486					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						GGTACTGGATCCAGGTGAGGT	0.502000														34			24		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21627698	21627698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:21627698G>A	uc003svc.3	+	9	1758	c.1727G>A	c.(1726-1728)gGa>gAa	p.G576E		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	576	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						ACCATATTTGGAAATTTTCTA	0.358000									Kartagener syndrome					29			31		0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133650239	133650240	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:133650239_133650240GG>AA	uc003ytk.3	-	3	444_445	c.370_371CC>TT	c.(370-372)cca>TTa	p.P124L	LRRC6_uc022bbp.1_Missense_Mutation_p.P124L|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	124	LRRCT.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGAAGCACATGGGTTCCCCATG	0.426000														11			32		0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42762578	42762578	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:42762578G>A	uc002yzf.1	+	5	923	c.819G>A	c.(817-819)acG>acA	p.T273T	MX2_uc011aer.1_Intron|MX2_uc002yzg.1_5'UTR	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	273					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TTGCCACCACGGAGGCGCTGA	0.562000														70			60		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28923499	28923499	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:28923499G>A	uc002kwp.3	+	11	1986	c.1774G>A	c.(1774-1776)Gga>Aga	p.G592R	DSG1_uc010xbp.2_5'Flank	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	592					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	p.G592V(1)		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)			ATGTTCAGATGGAGCAATTCA	0.493000														25			41		0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43679421	43679421	+	Missense_Mutation	SNP	G	A	A	rs150587441	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:43679421G>A	uc002ovu.3	-	3	1041	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.R304C	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	304	Ig-like C2-type 2.				female pregnancy	extracellular region		p.R304C(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GCTGAGTTACGAACAGAGCAA	0.443000														198			44		0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685552	125685552	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:125685552C>T	uc022cds.1	-	0	1040	c.1040G>A	c.(1039-1041)cGa>cAa	p.R347Q	DCAF12L1_uc004eul.3_Missense_Mutation_p.R347Q	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	347										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCCACCCTCTCGAGAACACAG	0.612000														22			13		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141758086	141758086	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141758086C>T	uc003vwy.3	+	30	3831	c.3777C>T	c.(3775-3777)atC>atT	p.I1259I		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1259	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTCTGAGATCGCCAGCTTGT	0.498000														147			102		0	0	1	0	0
OAZ3	51686	broad.mit.edu	37	1	151739672	151739673	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:151739672_151739673CC>TT	uc010pdm.2	+	1	268_269	c.198_199CC>TT	c.(196-201)ctccag>ctTTag	p.Q67*	OAZ3_uc010pdl.2_Nonsense_Mutation_p.Q23*	NM_016178	NP_057262	Q9UMX2	OAZ3_HUMAN	Homo sapiens ornithine decarboxylase antizyme 3 (OAZ3), transcript variant 1, mRNA.	20					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	ACTTGACACTCCAGCCCCGTTC	0.510000														123			69		0	0	1	0	0
ZNF214	7761	broad.mit.edu	37	11	7021886	7021886	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:7021886G>A	uc009yfh.1	-	2	1327	c.1028C>T	c.(1027-1029)tCa>tTa	p.S343L	ZNF214_uc001mfa.2_Missense_Mutation_p.S343L|ZNF214_uc010ray.1_Missense_Mutation_p.S343L	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	Homo sapiens zinc finger protein 214 (ZNF214), mRNA.	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GTGAAGTAATGAATTTCTACT	0.363000														56			18		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860024	16860024	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:16860024G>A	uc002neu.4	+	5	993	c.571G>A	c.(571-573)Gag>Aag	p.E191K	NWD1_uc002net.4_Missense_Mutation_p.E56K|NWD1_uc002nev.4_5'UTR|NWD1_uc021uqg.1_Missense_Mutation_p.E56K	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	191							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTTCCTTAGAGAGATCCAAGA	0.587000														35			34		0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214318	3214318	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:3214318G>A	uc002fvi.2	+	0	780	c.714G>A	c.(712-714)aaG>aaA	p.K238K						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		AGGGCAGAAAGAAAGCCTTCT	0.577000														69			48		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73850012	73850012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:73850012G>A	uc003xzb.3	+	2	3010	c.2422G>A	c.(2422-2424)Gat>Aat	p.D808N		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	808					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CACTGAAATAGATACTGGTGA	0.527000														47			9		0	0	1	0	0
LEFTY2	7044	broad.mit.edu	37	1	226127470	226127470	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:226127470G>A	uc001hpt.2	-	1	726	c.483C>T	c.(481-483)tcC>tcT	p.S161S	LEFTY2_uc010pvk.2_Silent_p.S127S|LEFTY2_uc009xek.2_Intron	NM_003240	NP_003231	O00292	LFTY2_HUMAN	Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA.	161					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					AGTCGATGAGGGAGGTGCGGT	0.776000														3			14		0	0	1	0	0
FGF11	2256	broad.mit.edu	37	17	7346000	7346000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:7346000C>T	uc002ggz.3	+	3	747	c.496C>T	c.(496-498)Cgt>Tgt	p.R166C	SPEM1_uc010vtw.1_3'UTR|FGF11_uc010cmi.3_Missense_Mutation_p.R42C|FGF11_uc010vtx.2_Missense_Mutation_p.R107C|CHRNB1_uc002ghb.3_5'Flank|CHRNB1_uc010vty.2_5'Flank	NM_004112	NP_004103	Q92914	FGF11_HUMAN	Homo sapiens fibroblast growth factor 11 (FGF11), mRNA.	166					cell-cell signaling|nervous system development|signal transduction		growth factor activity			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				CCGCCAGCGTCGTTCTGGCCG	0.552000														307			69		0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909299	123909299	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:123909299C>T	uc001pzq.1	-	0	410	c.410G>A	c.(409-411)gGg>gAg	p.G137E		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ACACGAGCGCCCAGTCATCAT	0.567000														60			38		0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53272436	53272436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:53272436C>T	uc002ehb.3	+	10	2979	c.2815C>T	c.(2815-2817)Cat>Tat	p.H939Y	CHD9_uc002egy.3_Missense_Mutation_p.H939Y|CHD9_uc002ehc.3_Missense_Mutation_p.H939Y|CHD9_uc002ehf.3_Missense_Mutation_p.H53Y|CHD9_uc002ehg.2_Missense_Mutation_p.H53Y|CHD9_uc002ehd.2_Missense_Mutation_p.H465Y|CHD9_uc002ehe.1_Missense_Mutation_p.H53Y	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	939	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGTGGTTTATCATGGGAGCCT	0.388000														55			43		0	0	1	0	0
OSR2	116039	broad.mit.edu	37	8	99961429	99961429	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:99961429C>T	uc011lgx.2	+	2	1033	c.612C>T	c.(610-612)ttC>ttT	p.F204F	OSR2_uc010mbn.2_Silent_p.F83F|OSR2_uc003yir.3_Silent_p.F83F|OSR2_uc003yiq.3_Silent_p.F83F	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	Homo sapiens odd-skipped related 2 (Drosophila) (OSR2), transcript variant 1, mRNA.	83					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			ACGCGCGCTTCCCCTTCCCGG	0.657000														33			62		0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99131889	99131889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:99131889G>A	uc001knf.3	-	19	2423	c.2284C>T	c.(2284-2286)Ccg>Tcg	p.P762S	RRP12_uc009xvl.3_5'UTR|RRP12_uc009xvm.3_Missense_Mutation_p.P480S|RRP12_uc010qou.2_Missense_Mutation_p.P701S|RRP12_uc009xvn.3_Missense_Mutation_p.P662S	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	762						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)		TCAGCACACGGAGCCAAGGCC	0.627000														48			11		0	0	1	0	0
GMEB1	10691	broad.mit.edu	37	1	29023460	29023460	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:29023460G>A	uc001bra.3	+	5	634	c.492G>A	c.(490-492)caG>caA	p.Q164Q	GMEB1_uc001bqz.3_Silent_p.Q154Q|GMEB1_uc001brb.3_Silent_p.Q154Q	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 1 (GMEB1), transcript variant 1, mRNA.	164	SAND.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCCGGACAGATTGATTTTT	0.458000														45			10		0	0	1	0	0
KIAA0664	23277	broad.mit.edu	37	17	2598251	2598251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:2598251C>T	uc002fuy.1	-	15	2721	c.2635G>A	c.(2635-2637)Ggg>Agg	p.G879R	KIAA0664_uc002fux.1_Missense_Mutation_p.G812R|KIAA0664_uc010ckc.1_5'UTR	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	879							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						TCTGCAGCCCCCGGGGGCCGG	0.602000														17			5		0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36484591	36484591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:36484591C>T	uc002hpz.3	-	10	4882	c.4861G>A	c.(4861-4863)Gag>Aag	p.E1621K		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1621						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGCATTTTCTCCTTGTCCTTT	0.493000														133			41		0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47685578	47685578	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:47685578C>T	uc001cqx.2	-	3	1387	c.810G>A	c.(808-810)ggG>ggA	p.G270G	TAL1_uc009vyq.2_Missense_Mutation_p.G27E|TAL1_uc001cqy.2_Silent_p.G270G	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	270	Poly-Gly.				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						cgccccctcccccacctccac	0.687000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic									2			15		0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179545842	179545842	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:179545842G>A	uc003mlq.3	-	7	1229	c.932C>T	c.(931-933)tCc>tTc	p.S311F	RASGEF1C_uc003mlr.3_Missense_Mutation_p.S311F|RASGEF1C_uc003mlp.4_Missense_Mutation_p.S160F	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA.	311	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCAGCCTGGAGACAGGGCT	0.632000														31			42		0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14108622	14108622	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:14108622C>T	uc001avi.3	+	7	5188	c.4332C>T	c.(4330-4332)gcC>gcT	p.A1444A	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Silent_p.A1444A|PRDM2_uc001avk.3_Silent_p.A1243A|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	1444	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGCAGAAGGCCGACTTGAAAA	0.393000														132			66		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87170679	87170679	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:87170679G>A	uc003uiz.2	-	18	2806	c.2313C>T	c.(2311-2313)ttC>ttT	p.F771F	ABCB1_uc011khc.2_Silent_p.F707F	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	771	ABC transmembrane type-1 2.				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			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)	TTACCTGAAGGAAAAATGTAA	0.299000														25			31		0	0	1	0	0
AQP2	359	broad.mit.edu	37	12	50349313	50349313	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:50349313G>A	uc001rvn.3	+	3	828	c.738G>A	c.(736-738)tgG>tgA	p.W246*		NM_000486	NP_000477	P41181	AQP2_HUMAN	Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA.	246					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						ACACCGATTGGGAGGAGCGCG	0.692000														9			15		0	0	1	0	0
MTNR1B	4544	broad.mit.edu	37	11	92703056	92703056	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:92703056C>T	uc001pdk.1	+	0	268	c.165C>T	c.(163-165)gtC>gtT	p.V55V		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	55					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CCGTGGACGTCGTGGGCAACC	0.692000														37			34		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415733	57415733	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:57415733G>A	uc021wfl.1	+	0	939	c.572G>A	c.(571-573)gGg>gAg	p.G191E	GNAS-AS1_uc002xzs.2_Intron|GNAS_uc002xzt.3_5'UTR|GNAS_uc021wfm.1_Missense_Mutation_p.G191E|GNAS_uc010gjq.3_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 4, mRNA.	316					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			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)			CCCAGGGAAGGGGAGGAGCTC	0.662000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				20			6		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90007963	90007963	+	RNA	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:90007963A>T	uc010yts.2	+	13		c.2251A>T								Parts of antibodies, mostly variable regions.																		ATTAGCAATTATTTAGCCTGG	0.522000														31			16		0	0	1	0	0
APCDD1	147495	broad.mit.edu	37	18	10471727	10471728	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:10471727_10471728AC>TT	uc002kom.4	+	2	797_798	c.443_444AC>TT	c.(442-444)cac>cTT	p.H148L		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1 (APCDD1), mRNA.	148					Wnt receptor signaling pathway|hair follicle development|negative regulation of Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		TACCAGCTGCACAACGTCCAGG	0.644000														5			42		0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59373233	59373233	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:59373233T>C	uc002afv.3	+	7	2326	c.2047T>C	c.(2047-2049)Tat>Cat	p.Y683H	RNF111_uc002afs.3_Missense_Mutation_p.Y683H|RNF111_uc002aft.3_Missense_Mutation_p.Y683H|RNF111_uc002afu.3_Missense_Mutation_p.Y682H|RNF111_uc002afw.3_Missense_Mutation_p.Y683H|RNF111_uc002afx.3_Missense_Mutation_p.Y209H	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	683	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TCAAGTGGATTATGTTATTCC	0.498000														96			39		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438979	179438979	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179438979G>A	uc021vsy.1	-	274	64401	c.64176C>T	c.(64174-64176)atC>atT	p.I21392I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.I15087I|TTN_uc021vta.1_Silent_p.I15020I|TTN_uc021vtb.1_Silent_p.I14895I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22319	Ig-like 113.						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)			TCTTTTCAACGATATAACTGG	0.413000														34			14		0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5730836	5730836	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5730836G>A	uc001mbr.3	+	7	1834	c.1455G>A	c.(1453-1455)tgG>tgA	p.W485*	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|TRIM22_uc010qzm.2_Nonsense_Mutation_p.W313*|TRIM22_uc009yes.3_Nonsense_Mutation_p.W481*|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	485	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TCAATCCTTGGAACTGCCTAG	0.478000														151			28		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31587077	31587077	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:31587077G>A	uc002rnv.1	-	23	2657	c.2578C>T	c.(2578-2580)Ctt>Ttt	p.L860F		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	860					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TCCACCTCAAGAGCCACAACT	0.542000														180			19		0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15873009	15873009	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:15873009C>T	uc002yju.1	-	5	691	c.609G>A	c.(607-609)tgG>tgA	p.W203*	SAMSN1_uc010gky.1_Nonsense_Mutation_p.W35*|SAMSN1_uc002yjv.1_Nonsense_Mutation_p.W271*	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	203	SH3.				negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ACATTCCTGTCCACATCCCCA	0.388000														101			26		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450679	105450679	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:105450679G>A	uc022cca.1	+	0	1254	c.1254G>A	c.(1252-1254)agG>agA	p.R418R	MUM1L1_uc004emg.2_Silent_p.R418R|MUM1L1_uc004emf.2_Silent_p.R418R	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	418	PWWP.									autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GAAAAGAGAGGAAAGCAAGTG	0.333000														0			20		0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6427490	6427490	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:6427490G>A	uc001qnr.3	+	10	1327	c.1179G>A	c.(1177-1179)ctG>ctA	p.L393L	PLEKHG6_uc001qns.3_Silent_p.L393L|PLEKHG6_uc010sew.2_Silent_p.L393L|PLEKHG6_uc010sex.2_Silent_p.L361L	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	393					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TCTCCACCCTGGACCTGACGT	0.652000														34			17		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87591016	87591016	+	Silent	SNP	C	T	T	rs142347723		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:87591016C>T	uc003ydx.3	-	16	2052	c.2004G>A	c.(2002-2004)ccG>ccA	p.P668P	CNGB3_uc010maj.3_Silent_p.P525P	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	668					signal transduction|visual perception	integral to membrane	cGMP binding	p.P668P(2)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCTCTTCTTTCGGTGGGAAGA	0.473000														65			39		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31299727	31299727	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:31299727G>A	uc003jhe.2	+	4	1160	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	CDH6_uc003jhd.2_Missense_Mutation_p.R267Q	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	267	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						AACCCTCCCCGATTCCCCCAG	0.418000														54			10		0	0	1	0	0
PARM1	25849	broad.mit.edu	37	4	75937875	75937875	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:75937875C>T	uc003hih.2	+	1	537	c.284C>T	c.(283-285)tCg>tTg	p.S95L		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	95					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						AGCCCAGGTTCGAATTGGGAA	0.527000														102			19		0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168486	142168486	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142168486G>A	uc011kry.1	-	1	403	c.237C>T	c.(235-237)ttC>ttT	p.F79F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|TRBV5-4_uc022anj.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		ATCTAGGAGGGAAGTTTCCTC	0.527000														46			58		0	0	1	0	0
TADA2A	6871	broad.mit.edu	37	17	35797851	35797852	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:35797851_35797852CC>TT	uc002hnv.3	+	4	574_575	c.205_206CC>TT	c.(205-207)cct>TTt	p.P69F	TADA2A_uc002hnt.3_Missense_Mutation_p.P69F|TADA2A_uc002hnu.1_Missense_Mutation_p.P69F|TADA2A_uc002hnw.3_5'UTR	NM_001488	NP_001479	O75478	TAD2A_HUMAN	Homo sapiens transcriptional adaptor 2A (TADA2A), transcript variant 1, mRNA.	69					histone H3 acetylation|transcription from RNA polymerase II promoter	PCAF complex|chromosome	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TTCAGATTTTCCTGTCCTTGAT	0.460000														120			17		0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90348321	90348321	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:90348321G>A	uc002bop.4	-	3	1177	c.885C>T	c.(883-885)tcC>tcT	p.S295S		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	295	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	AGACACCATTGGATGCCTGCT	0.562000														97			42		0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79225352	79225352	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:79225352G>A	uc002jzz.1	-	13	2381	c.2006C>T	c.(2005-2007)cCt>cTt	p.P669L	SLC38A10_uc002jzy.1_Missense_Mutation_p.P587L|SLC38A10_uc002kab.3_Missense_Mutation_p.P669L	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	669					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTGCTCGCGAGGCTCGGGCGG	0.692000														14			19		0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123676665	123676665	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:123676665C>T	uc010rzz.2	-	0	393	c.393G>A	c.(391-393)acG>acA	p.T131T		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T131T(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TCATGATGACCGTGTAGTGCA	0.517000														15			10		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21641176	21641176	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:21641176G>A	uc003svc.3	+	17	3619	c.3588G>A	c.(3586-3588)acG>acA	p.T1196T		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1196	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						TAAAAGAAACGATCACCCTCT	0.418000									Kartagener syndrome					33			8		0	0	1	0	0
KCTD21	283219	broad.mit.edu	37	11	77885238	77885238	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:77885238C>T	uc001ozb.3	-	1	438	c.363G>A	c.(361-363)caG>caA	p.Q121Q	KCTD21_uc021qnx.1_Silent_p.Q121Q	NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 21 (KCTD21), mRNA.	121						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			AGTGGACCGTCTGCACACGCT	0.577000														33			12		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176992577	176992577	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:176992577G>A	uc001glc.3	-	6	1613	c.1401C>T	c.(1399-1401)ctC>ctT	p.L467L	ASTN1_uc001glb.1_Silent_p.L467L|ASTN1_uc001gld.1_Silent_p.L467L|ASTN1_uc009wwx.1_Silent_p.L467L|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	467	EGF-like 1.				cell migration|neuron cell-cell adhesion	integral to membrane		p.L467L(2)		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						AGGGGTCCAGGAGCCGCCGGG	0.612000														21			3		0	0	1	0	0
PPHLN1	51535	broad.mit.edu	37	12	42768706	42768706	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:42768706C>A	uc001rng.1	+	4	446	c.341C>A	c.(340-342)tCc>tAc	p.S114Y	PPHLN1_uc001rna.3_Missense_Mutation_p.S66Y|PPHLN1_uc001rnb.3_Missense_Mutation_p.S121Y|PPHLN1_uc001rnc.3_Missense_Mutation_p.S114Y|PPHLN1_uc001rnd.3_Missense_Mutation_p.S66Y|PPHLN1_uc001rnf.3_Missense_Mutation_p.S114Y|PPHLN1_uc010skq.2_Missense_Mutation_p.S59Y|PPHLN1_uc010skr.1_Missense_Mutation_p.S59Y|PPHLN1_uc010sks.1_Missense_Mutation_p.S59Y|PPHLN1_uc010skt.1_Missense_Mutation_p.S13Y|PPHLN1_uc001rni.1_Missense_Mutation_p.S59Y|PPHLN1_uc001rnh.1_Non-coding_Transcript|PPHLN1_uc010sku.1_Missense_Mutation_p.S66Y	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN	Homo sapiens periphilin 1 (PPHLN1), transcript variant 1, mRNA.	114					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TTCTACTCTTCCCATTATGCG	0.368000														25			22		8.04996e-18	8.13199e-18	1	1	0
NOS1	4842	broad.mit.edu	37	12	117696834	117696834	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:117696834C>T	uc001twn.2	-	14	3180	c.2469G>A	c.(2467-2469)ggG>ggA	p.G823G	NOS1_uc021ren.1_Silent_p.G487G|NOS1_uc021reo.1_Silent_p.G487G|NOS1_uc001twm.2_Silent_p.G823G	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	823	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATCTCACCTCCCCATTCTCAG	0.488000														50			11		0	0	1	0	0
BOD1L2	284257	broad.mit.edu	37	18	54814861	54814861	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:54814861G>A	uc002lgm.3	+	0	569	c.318G>A	c.(316-318)gtG>gtA	p.V106V						Homo sapiens biorientation of chromosomes in cell division 1 pseudogene (BOD1P), non-coding RNA.																		GGCAGAGTGTGGTTCAGTCAG	0.478000														9			8		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170136018	170136018	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:170136018C>A	uc002ues.3	-	11	1642	c.1429G>T	c.(1429-1431)Gtt>Ttt	p.V477F	LRP2_uc010zdf.1_Missense_Mutation_p.V477F	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	477					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTATTATTAACCCAGTCCACA	0.378000														42			14		1.5842e-08	1.59253e-08	1	1	0
PTCHD3	374308	broad.mit.edu	37	10	27702450	27702450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:27702450C>T	uc001itu.2	-	0	848	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	244					spermatid development	integral to membrane	hedgehog receptor activity	p.R243Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CTTCCCTTTTCCCGCGCCACG	0.622000														26			28		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33683131	33683131	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:33683131C>T	uc003jia.1	-	4	1070	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	ADAMTS12_uc010iuq.1_Missense_Mutation_p.E303K	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	303	Peptidase M12B.|Poly-Glu.				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						ACCTCTTCTTCTTCGAGTAGA	0.428000										HNSCC(64;0.19)				32			8		0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47162137	47162137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:47162137G>A	uc003cqv.3	-	2	4042	c.3956C>T	c.(3955-3957)tCc>tTc	p.S1319F	SETD2_uc003cqs.3_Missense_Mutation_p.S1330F	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATCTGTTAGGGAATCTGGTAC	0.453000			"""N, F, S, Mis"""		clear cell renal carcinoma									55			19		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107170178	107170178	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:107170178G>A	uc021ser.1	-	44		c.2706C>T								Parts of antibodies, mostly variable regions.																		CTTCACCGAGGACCCAGGCTT	0.572000														103			14		0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104303238	104303238	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:104303238C>T	uc004bbn.3	+	4	699	c.609C>T	c.(607-609)tcC>tcT	p.S203S		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	Homo sapiens ring finger protein 20 (RNF20), mRNA.	203					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AGCTCTTATCCCGGAAGCTAA	0.488000														4			23		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515225	140515225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140515225G>A	uc003liq.3	+	0	426	c.209G>A	c.(208-210)gGa>gAa	p.G70E		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	70	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATTACAAAGGAAACAAAGAG	0.507000														91			27		0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117311262	117311262	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:117311262C>T	uc001egu.4	+	4	942	c.913C>T	c.(913-915)Cag>Tag	p.Q305*		NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	305	Pro-rich.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	ACACCGTGTTCAGCACCAGCC	0.612000														79			54		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088162	86088162	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:86088162G>A	uc021rxf.1	+	0	304	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	FLRT2_uc001xvr.3_Missense_Mutation_p.E102K|FLRT2_uc010atd.3_Missense_Mutation_p.E102K	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	102					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.E102K(2)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CCAACTGGACGAATTCCCCAT	0.468000														81			27		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885876	88885876	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:88885876C>T	uc003ydz.3	-	0	421	c.324G>A	c.(322-324)acG>acA	p.T108T		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	108										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCTCAGGGGTCGTCAGGCCTC	0.547000														71			34		0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40399581	40399582	+	Missense_Mutation	DNP	CC	TT	TT	rs140611678		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:40399581_40399582CC>TT	uc003oph.1	-	1	1736_1737	c.1271_1272GG>AA	c.(1270-1272)cgg>cAA	p.R424Q		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	424	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane		p.R424W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAAGCACAGCCCGTTCCGGGGG	0.634000														74			9		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79024871	79024871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:79024871C>T	uc003kgc.3	+	1	355	c.283C>T	c.(283-285)Cct>Tct	p.P95S		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	95						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATCTTCTACTCCTTGGGCTTC	0.448000														54			72		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228456379	228456379	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:228456379G>A	uc009xez.1	+	16	5054	c.5010G>A	c.(5008-5010)tcG>tcA	p.S1670S	OBSCN_uc001hsn.3_Silent_p.S1670S|OBSCN_uc001hso.3_Silent_p.S116S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1670	Ig-like 17.|Poly-Ser.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTTCCAGCTCGAAAGTGCGCG	0.687000														40			44		0	0	1	0	0
PARD6B	84612	broad.mit.edu	37	20	49366359	49366359	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:49366359C>T	uc002xvo.3	+	2	696	c.453C>T	c.(451-453)ctC>ctT	p.L151L		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog beta (C. elegans) (PARD6B), mRNA.	151	Interaction with PARD3 and CDC42 (By similarity).				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						TGGATATTCTCCCAGAAACGC	0.458000														28			37		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51650055	51650055	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51650055G>A	uc002pvv.1	+	4	1141	c.1072G>A	c.(1072-1074)Gga>Aga	p.G358R	SIGLEC7_uc002pvw.1_Missense_Mutation_p.G265R|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	358					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GGCGGTCGGGGGAGCTGGAGC	0.567000														58			43		0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215298058	215298058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:215298058C>T	uc001hkq.3	+	2	609	c.440C>T	c.(439-441)tCc>tTc	p.S147F	KCNK2_uc001hko.3_Missense_Mutation_p.S143F|KCNK2_uc009xdm.3_Non-coding_Transcript|KCNK2_uc001hkp.3_Intron|KCNK2_uc010pua.1_Intron|KCNK2_uc001hkr.4_Missense_Mutation_p.S132F	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	Homo sapiens potassium channel, subfamily K, member 2 (KCNK2), transcript variant 3, mRNA.	147							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TTGGGAAGTTCCTTCTTCTTT	0.368000														78			106		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1269833	1269833	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:1269833C>T	uc001lta.3	+	30	11782	c.11723C>T	c.(11722-11724)tCc>tTc	p.S3908F		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3908	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				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)		ACCCCCTCCTCCGTCCCGGGG	0.647000														30			5		0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168838	142168838	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142168838G>A	uc011kry.1	-	0	173	c.7C>T	c.(7-9)Cct>Tct	p.P3S	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|TRBV5-4_uc022anj.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AGGAGCCCAGGGCCCATGGCA	0.607000														31			10		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37746727	37746727	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:37746727C>T	uc004aag.1	+	15	4742	c.4698C>T	c.(4696-4698)ttC>ttT	p.F1566F	FRMPD1_uc004aah.1_Silent_p.F1566F	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	1566						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)		CCGCCGTGTTCTGTTTGACCC	0.602000														95			27		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78380432	78380432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:78380432G>A	uc001ozl.4	-	31	7421	c.6958C>T	c.(6958-6960)Ccc>Tcc	p.P2320S	ODZ4_uc001ozk.4_Missense_Mutation_p.P545S	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2320					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						ACCTTGGTGGGGTTGGTCAGG	0.592000														65			64		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394629	154394629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:154394629C>T	uc010jih.1	+	0	1370	c.1210C>T	c.(1210-1212)Cgt>Tgt	p.R404C		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	404					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.R404C(3)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAAATTAAGTCGTTGTCTGAG	0.453000														50			72		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152086421	152086421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152086421G>A	uc009wne.1	-	1	408	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W	TCHH_uc001ezp.2_Missense_Mutation_p.R46W	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	46	EF-hand 1.|S-100-like.				keratinization	cytoskeleton	calcium ion binding	p.R46L(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTCTTACCCGAAGCACAGCT	0.378000														71			51		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67129836	67129836	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:67129836C>T	uc002jhw.1	-	5	912	c.737G>A	c.(736-738)aGa>aAa	p.R246K		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	246					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGACTTTTTTCTCTCTTTTGT	0.294000														30			5		0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52591931	52591931	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:52591931C>T	uc002xws.2	-	7	1517	c.1179G>A	c.(1177-1179)gaG>gaA	p.E393E	BCAS1_uc010zza.1_Intron|BCAS1_uc010zzb.1_Silent_p.E341E|BCAS1_uc010gim.2_Intron|BCAS1_uc002xwt.2_Intron|BCAS1_uc010gil.1_Silent_p.E393E	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	393						cytoplasm	protein binding	p.E393D(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			AACTTACATTCTCCTCCGCAC	0.413000														23			36		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306742	54306742	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:54306742C>T	uc021smr.1	+	0	1642	c.1642C>T	c.(1642-1644)Cgt>Tgt	p.R548C	UNC13C_uc021sms.1_Missense_Mutation_p.R548C	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	548					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TAAACTTAGTCGTTCTGAATC	0.388000														30			22		0	0	1	0	0
FKBP9L	360132	broad.mit.edu	37	7	55750512	55750512	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:55750512C>T	uc010kzl.3	-	5	692	c.592G>A	c.(592-594)Gag>Aag	p.E198K	FKBP9L_uc010kzk.3_Missense_Mutation_p.E87K|FKBP9L_uc003tqt.3_Missense_Mutation_p.E87K|FKBP9L_uc011kcs.2_Missense_Mutation_p.E87K					Homo sapiens FK506 binding protein 9-like (FKBP9L), transcript variant 4, non-coding RNA.											endometrium(1)|kidney(1)|lung(3)	5						TGAATGTACTCTGAGAACTGG	0.542000														22			31		0	0	1	0	0
DEFB110	245913	broad.mit.edu	37	6	49986775	49986775	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:49986775C>T	uc003pac.3	-	1	165	c.119G>A	c.(118-120)gGt>gAt	p.G40D	DEFB110_uc011dwr.2_Intron	NM_001037497	NP_001032586	Q30KQ9	DB110_HUMAN	Homo sapiens defensin, beta 110 locus (DEFB110), transcript variant 1, mRNA.	40					defense response to bacterium	extracellular region				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					TTTACATTGACCATTACCTAT	0.383000														77			16		0	0	1	0	0
ACO1	48	broad.mit.edu	37	9	32407274	32407274	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:32407274C>T	uc003zqw.4	+	2	268	c.113C>T	c.(112-114)tCg>tTg	p.S38L	ACO1_uc010mjh.1_5'UTR|ACO1_uc003zqx.4_Missense_Mutation_p.S38L|ACO1_uc003zqy.4_Non-coding_Transcript	NM_002197	NP_002188	P21399	ACOC_HUMAN	Homo sapiens aconitase 1, soluble (ACO1), mRNA.	38					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	Golgi apparatus|cytosol|endoplasmic reticulum	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TTACCATTTTCGATCAGAGTT	0.383000														7			27		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47647113	47647113	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:47647113C>T	uc003gxm.3	-	13	2035	c.1942G>A	c.(1942-1944)Gac>Aac	p.D648N	CORIN_uc011bzf.2_Missense_Mutation_p.D509N|CORIN_uc011bzg.2_Missense_Mutation_p.D581N|CORIN_uc011bzh.1_Missense_Mutation_p.D611N	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	648	LDL-receptor class A 6.				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						TTTTTCTCGTCCATGTAATCA	0.388000														44			22		0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130973	45130973	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:45130973G>A	uc002xsa.3	-	3	1536	c.1074C>T	c.(1072-1074)gcC>gcT	p.A358A	ZNF334_uc002xsb.3_Silent_p.A297A|ZNF334_uc002xsd.3_Silent_p.A297A|ZNF334_uc002xsc.3_Silent_p.A335A|ZNF334_uc010ghl.3_Silent_p.A334A			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GTTCAGCCAGGGCTGACTTCC	0.423000														96			18		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72969126	72969126	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:72969126G>A	uc001sxa.3	+	10	2118	c.2088G>A	c.(2086-2088)agG>agA	p.R696R		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	696					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATGACCTAAGGAACTGGAGAT	0.363000														29			34		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2855558	2855558	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:2855558C>T	uc022aqr.1	-	53	8742	c.8352G>A	c.(8350-8352)tgG>tgA	p.W2784*	CSMD1_uc011kwj.2_Nonsense_Mutation_p.W2114*|CSMD1_uc010lrg.3_Nonsense_Mutation_p.W795*	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2785	Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAGGGCTACTCCACTGGCCGT	0.557000														36			7		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138208523	138208523	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:138208523G>A	uc002tva.1	+	13	2975	c.2975G>A	c.(2974-2976)cGa>cAa	p.R992Q	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGAGAATTCGATCCAAATGG	0.413000														10			18		0	0	1	0	0
C12orf32	83695	broad.mit.edu	37	12	2997420	2997420	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:2997420C>T	uc001qlh.3	+	2	680	c.512C>T	c.(511-513)cCc>cTc	p.P171L	TULP3_uc010sef.1_Intron|TULP3_uc009zec.1_5'Flank|TULP3_uc001qlj.2_5'Flank|TULP3_uc010seh.1_5'Flank|TULP3_uc010sei.1_5'Flank|C12orf32_uc010see.2_Missense_Mutation_p.P157L|C12orf32_uc001qli.3_Missense_Mutation_p.P32L	NM_001252499	NP_001239428			Homo sapiens chromosome 12 open reading frame 32 (C12orf32), transcript variant 1, mRNA.											endometrium(1)|kidney(1)|lung(3)	5			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GAACTCATTCCCCAAGATCAG	0.502000														52			64		0	0	1	0	0
PEX2	5828	broad.mit.edu	37	8	77896146	77896146	+	Missense_Mutation	SNP	G	A	A	rs146354196	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:77896146G>A	uc022awg.1	-	0	269	c.269C>T	c.(268-270)tCc>tTc	p.S90F	PEX2_uc003yax.3_Missense_Mutation_p.S90F|PEX2_uc003yay.3_Missense_Mutation_p.S90F|PEX2_uc022awe.1_Missense_Mutation_p.S90F|PEX2_uc022awf.1_Missense_Mutation_p.S90F	NM_001172087	NP_001165558	P28328	PEX2_HUMAN	Homo sapiens peroxisomal biogenesis factor 2 (PEX2), transcript variant 4, mRNA.	90					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						CAGGTTAGGGGAAAAATCATT	0.388000														22			7		0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44249420	44249420	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:44249420G>A	uc002ikc.3	-	1	561	c.90C>T	c.(88-90)tcC>tcT	p.S30S	KANSL1_uc002ikd.3_Silent_p.S30S|KANSL1_uc010dav.3_Silent_p.S30S	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	30						MLL1 complex	protein binding										CACTGCCAGGGGACAAGGTAG	0.552000														100			24		0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154091172	154091173	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:154091172_154091173CC>TT	uc001fdw.3	-	10	1510_1511	c.1438_1439GG>AA	c.(1438-1440)gga>AAa	p.G480K	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.G480K	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	480						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATATAACATTCCCATAGGATGA	0.337000														151			32		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140846732	140846732	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:140846732G>A	uc004cog.3	+	6	1118	c.973G>A	c.(973-975)Gat>Aat	p.D325N	CACNA1B_uc022bqn.1_Missense_Mutation_p.D325N	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	325					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCAGACAAACGATGCGGCCGG	0.597000														27			9		0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150421572	150421572	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:150421572C>T	uc003eyg.3	-	0	171	c.114G>A	c.(112-114)gaG>gaA	p.E38E	FAM194A_uc003eyh.3_Intron	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	38	Glu-rich.									NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ccacctcttcctcctcctcct	0.627000														19			3		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56538842	56538842	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56538842G>A	uc002qmj.3	+	6	1243	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	NLRP5_uc002qmi.3_Missense_Mutation_p.E396K	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	415	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)		CGTGGGCACAGAGAAGCTCAA	0.562000														18			6		0	0	1	0	0
DECR2	26063	broad.mit.edu	37	16	457472	457472	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:457472C>T	uc002chb.3	+	3	355	c.249C>T	c.(247-249)ctC>ctT	p.L83L	DECR2_uc002chc.3_5'UTR|DECR2_uc002chd.3_5'UTR|DECR2_uc002che.1_Non-coding_Transcript	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 2, peroxisomal (DECR2), mRNA.	83						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				GCCTCCCTCTCTCTATGGACG	0.637000														27			13		0	0	1	0	0
AK302694	0	broad.mit.edu	37	10	30998303	30998303	+	Silent	SNP	C	T	T	rs113012238	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:30998303C>T	uc010qdx.1	+	7	1391	c.849C>T	c.(847-849)ttC>ttT	p.F283F						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		CCACGGAGTTCGTGTACCCTG	0.587000														40			36		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023256	18023256	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:18023256C>T	uc021trm.1	+	0	1361	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V	MYO15A_uc021trl.1_Missense_Mutation_p.A381V	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	381	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GTCCCCTATGCCGAAGGCGTC	0.602000														75			30		0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27877948	27877948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:27877948G>A	uc021ojw.1	-	0	679	c.679C>T	c.(679-681)Cca>Tca	p.P227S	AHDC1_uc009vsy.3_Missense_Mutation_p.P227S|AHDC1_uc009vsz.1_Missense_Mutation_p.P227S|AHDC1_uc001boh.1_Missense_Mutation_p.P100S	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	227	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		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;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TCAGGCTCTGGGGGCAGACCC	0.642000														32			16		0	0	1	0	0
ZNF586	54807	broad.mit.edu	37	19	58290889	58290889	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58290889C>T	uc002qqd.3	+	2	1125	c.934C>T	c.(934-936)Cat>Tat	p.H312Y	ZNF587_uc002qqb.2_Intron|ZNF586_uc010euh.3_Missense_Mutation_p.H269Y|ZNF586_uc002qqe.3_3'UTR|ZNF586_uc002qqf.2_Intron	NM_017652	NP_001191743	Q9NXT0	ZN586_HUMAN	Homo sapiens zinc finger protein 586 (ZNF586), transcript variant 1, mRNA.	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCAGCGAGTTCATACTGGAGA	0.448000														41			18		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927645	43927645	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:43927645C>T	uc010yny.2	+	7	1631	c.1548C>T	c.(1546-1548)tcC>tcT	p.S516S	PLEKHH2_uc002rte.3_Silent_p.S516S|PLEKHH2_uc002rtf.3_Silent_p.S515S	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	516						cytoplasm|cytoskeleton|integral to membrane	binding	p.S516F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCTATGACTCCTTGGACTCTC	0.443000														156			507		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940528	144940528	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:144940528C>T	uc003zaa.1	-	0	6907	c.6894G>A	c.(6892-6894)gaG>gaA	p.E2298E		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2298						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)			ACAGCAGCTTCTCCTGGATCT	0.701000														146			5		0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114839701	114839701	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:114839701G>A	uc001tvo.3	-	2	667	c.172C>T	c.(172-174)Ctc>Ttc	p.L58F	TBX5_uc001tvp.3_Missense_Mutation_p.L58F|TBX5_uc001tvq.3_Missense_Mutation_p.L8F|TBX5_uc010syv.2_Missense_Mutation_p.L58F	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	58					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CTTTCATGGAGAAACACTTTG	0.478000														43			11		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13828697	13828697	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:13828697C>T	uc001rbt.2	-	3	1286	c.1107G>A	c.(1105-1107)aaG>aaA	p.K369K		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	369					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|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACTTCCTCTCCTTGTTCAGAA	0.408000														89			18		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43610101	43610101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:43610101G>A	uc001jal.3	+	10	2243	c.2053G>A	c.(2053-2055)Gtc>Atc	p.V685I	RET_uc001jak.1_Missense_Mutation_p.V685I|RET_uc010qez.1_Missense_Mutation_p.V431I	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	685					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GGCCTTCCCGGTCAGCTACTC	0.637000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					53			16		0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100266210	100266210	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:100266210C>T	uc021xqi.1	-	4		c.461G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CTGGTGCCATCCTGCAGGGTC	0.552000														43			13		0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94391689	94391689	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:94391689G>A	uc001ybz.2	+	1	397	c.72G>A	c.(70-72)ggG>ggA	p.G24G	FAM181A-AS1_uc001yby.2_Intron|FAM181A_uc021say.1_Intron|FAM181A_uc021saz.1_5'Flank|FAM181A_uc010aus.2_5'Flank|FAM181A_uc001yca.2_5'Flank	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	24										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GAAGGCCTGGGGAGAAAAGGG	0.522000														31			15		0	0	1	0	0
CAMK2A	815	broad.mit.edu	37	5	149629796	149629796	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:149629796T>C	uc003lru.2	-	10	1108	c.893A>G	c.(892-894)aAa>aGa	p.K298R	CAMK2A_uc003lrt.2_Missense_Mutation_p.K298R|CAMK2A_uc010jhe.2_Missense_Mutation_p.K278R	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 2, mRNA.	298	Calmodulin-binding.				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TACCTTCAGTTTCCTCCTGGC	0.582000														14			29		0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67225861	67225861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:67225861G>A	uc001olo.3	+	4	748	c.671G>A	c.(670-672)gGa>gAa	p.G224E	CABP4_uc001oln.3_Missense_Mutation_p.G119E	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	224	EF-hand 3.				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GACAGGGATGGACGAATTACG	0.602000														35			19		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872519	51872519	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:51872519G>A	uc002xwo.3	+	1	3409	c.2522G>A	c.(2521-2523)aGa>aAa	p.R841K	TSHZ2_uc021wex.1_Missense_Mutation_p.R838K	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	841					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TTGCATAAAAGAAAAGGCCGG	0.527000														100			12		0	0	1	0	0
SWI5	375757	broad.mit.edu	37	9	131038503	131038503	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:131038503G>A	uc004bup.3	+	0	79	c.79G>A	c.(79-81)Gag>Aag	p.E27K	GOLGA2_uc011maw.2_5'Flank|GOLGA2_uc010mxw.3_5'Flank|GOLGA2_uc004bul.1_5'Flank|SWI5_uc010mxx.1_Missense_Mutation_p.E27K	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	Homo sapiens SWI5 recombination repair homolog (yeast) (SWI5), mRNA.	27					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										CCCACCTCGGGAGAGGGGCGG	0.682000														17			12		0	0	1	0	0
CAGE1	285782	broad.mit.edu	37	6	7373615	7373615	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:7373615G>A	uc003mxl.2	-	4	1968	c.1437C>T	c.(1435-1437)gcC>gcT	p.A479A	CAGE1_uc003mxh.3_Non-coding_Transcript|CAGE1_uc021ylc.1_Silent_p.A343A|CAGE1_uc003mxj.3_Silent_p.A234A|CAGE1_uc003mxk.2_Silent_p.A479A	NM_001170692	NP_001164163	Q8TC20	CAGE1_HUMAN	Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA.	479								p.S479Y(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CTTGTTCTTGGGCCTCTTTTT	0.403000														36			10		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36899454	36899454	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:36899454G>A	uc003cgj.3	-	11	1875	c.1627C>T	c.(1627-1629)Cag>Tag	p.Q543*		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	543					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTGCTGTCCTGGACATTGGGG	0.483000														37			14		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24923695	24923695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:24923695G>A	uc001ywo.3	+	0	3155	c.2681G>A	c.(2680-2682)gGa>gAa	p.G894E		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	894					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TTAAATACAGGATCCATCTCT	0.507000														90			94		0	0	1	0	0
LELP1	149018	broad.mit.edu	37	1	153177331	153177331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:153177331G>A	uc001fbl.3	+	1	258	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	LELP1_uc021ozv.1_Missense_Mutation_p.E50K	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	Homo sapiens late cornified envelope-like proline-rich 1 (LELP1), mRNA.	50	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGCCCATGGGAAAAGTGTCC	0.562000														69			36		0	0	1	0	0
PIGN	23556	broad.mit.edu	37	18	59814235	59814235	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:59814235G>A	uc021ulb.1	-	5	806	c.774C>T	c.(772-774)atC>atT	p.I258I	PIGN_uc021ulc.1_5'UTR|PIGN_uc021uld.1_5'UTR	NM_176787	NP_789744	O95427	PIGN_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class N (PIGN), transcript variant 1, mRNA.	258					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				CAGAGGTAAAGATAAATGTTG	0.323000														10			8		0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39768523	39768523	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:39768523C>T	uc002hxg.4	-	0	557	c.418G>A	c.(418-420)Gag>Aag	p.E140K	JUP_uc010wfs.2_Intron|KRT16_uc021txm.1_Missense_Mutation_p.E140K	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	140	Coil 1A.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GCGTTGGCCTCCTCCAGAGCA	0.582000														116			31		0	0	1	0	0
SLC25A18	83733	broad.mit.edu	37	22	18066229	18066229	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:18066229G>A	uc002zmp.1	+	6	832	c.338G>A	c.(337-339)gGg>gAg	p.G113E	SLC25A18_uc010gqx.3_Missense_Mutation_p.G113E|SLC25A18_uc002zmq.1_Missense_Mutation_p.G113E	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier), member 18 (SLC25A18), nuclear gene encoding mitochondrial protein, mRNA.	113						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	TGTGGGGCTGGGATGTGCCAG	0.622000														192			10		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19562096	19562096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:19562096G>A	uc001vuz.1	+	3	965	c.913G>A	c.(913-915)Gga>Aga	p.G305R	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	305										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GGATAGATATGGAAGGTATAG	0.328000														1			15		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117923411	117923411	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:117923411C>T	uc001two.2	-	14	2273	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	769	Protein kinase.				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)					TTCACAATTTCTTGAGCAATC	0.502000														55			8		0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56934704	56934704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56934704C>T	uc010ygl.1	+	4	842	c.677C>T	c.(676-678)tCc>tTc	p.S226F	ZNF583_uc002qnc.2_Missense_Mutation_p.S226F|ZNF583_uc010ygm.1_Missense_Mutation_p.S226F	NM_001159860	NP_689691	Q96ND8	ZN583_HUMAN	Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CAGAGCTCATCCCTTACTCTT	0.378000														48			8		0	0	1	0	0
CTSH	1512	broad.mit.edu	37	15	79227365	79227365	+	Silent	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:79227365C>A	uc021srk.1	-	4	457	c.360G>T	c.(358-360)gtG>gtT	p.V120V	CTSH_uc010unf.1_Non-coding_Transcript|CTSH_uc010ung.1_Silent_p.V120V	NM_004390	NP_004381	P09668	CATH_HUMAN	Homo sapiens cathepsin H (CTSH), mRNA.	120					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						TCCGCCAGTCCACGGAAGGTG	0.453000														50			32		3.03874e-20	3.07261e-20	1	1	0
CHRNA5	1138	broad.mit.edu	37	15	78873221	78873221	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:78873221G>A	uc002bdy.3	+	1	375	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K		NM_000745	NP_000736	P30532	ACHA5_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 5 (CHRNA5), mRNA.	59					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						TCAAGACTACGAAAGATGGGT	0.328000														32			45		0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150868590	150868590	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:150868590G>A	uc022cgt.1	+	2	179	c.130G>A	c.(130-132)Gag>Aag	p.E44K	PRRG3_uc004few.2_Missense_Mutation_p.E44K	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA.	44	Gla.					extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCAGCTACGAGGAGGTCAA	0.552000														6			47		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61894074	61894074	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:61894074C>T	uc001jky.3	-	24	3134	c.2796G>A	c.(2794-2796)cgG>cgA	p.R932R	ANK3_uc001jkw.3_Silent_p.R66R|ANK3_uc009xpa.3_Silent_p.R66R|ANK3_uc001jkx.3_Silent_p.R110R|ANK3_uc010qih.2_Silent_p.R933R|ANK3_uc001jkz.4_Silent_p.R926R|ANK3_uc001jla.1_5'UTR|ANK3_uc001jlb.1_Silent_p.R439R	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	932					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			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						TCATGCTGTCCCGTGCATAGG	0.408000														25			9		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77415316	77415316	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:77415316C>T	uc004ajl.1	-	16	2330	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K	TRPM6_uc004ajk.1_Missense_Mutation_p.E693K|TRPM6_uc022bib.1_Missense_Mutation_p.E693K|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	698					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTCCTGAGTTCATACGTCAAC	0.522000														8			31		0	0	1	0	0
NACAP1	83955	broad.mit.edu	37	8	102381223	102381223	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:102381223C>T	uc003ykc.1	+	0	103	c.86C>T	c.(85-87)tCt>tTt	p.S29F	NACAP1_uc010mbs.1_Non-coding_Transcript					Homo sapiens nascent-polypeptide-associated complex alpha polypeptide pseudogene 1 (NACAP1), non-coding RNA.																		GGAACAGAATCTGACAGTGAT	0.527000														33			10		0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183381248	183381248	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:183381248C>T	uc003flv.3	+	3	1218	c.923C>T	c.(922-924)tCc>tTc	p.S308F	KLHL24_uc003flw.3_Missense_Mutation_p.S308F|KLHL24_uc003flx.3_Missense_Mutation_p.S308F	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA.	308						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TATTTTAGGTCCACTGGCTAT	0.338000														37			14		0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187747	57187747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:57187747G>A	uc010kzo.3	-	4	1646	c.1375C>T	c.(1375-1377)Cat>Tat	p.H459Y		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H459N(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTCCAGTATGAATTCTCTTG	0.428000														104			14		0	0	1	0	0
TNNI2	7136	broad.mit.edu	37	11	1862278	1862278	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:1862278G>A	uc021qbv.1	+	5	316	c.294G>A	c.(292-294)caG>caA	p.Q98Q	TNNI2_uc021qbt.1_Silent_p.Q77Q|TNNI2_uc021qbu.1_Silent_p.Q77Q|TNNI2_uc010qxe.1_Silent_p.Q98Q	NM_003282	NP_003273	P48788	TNNI2_HUMAN	Homo sapiens troponin I type 2 (skeletal, fast) (TNNI2), transcript variant 1, mRNA.	98	Involved in binding TNC and actin.				muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACATGAACCAGAAGCTATTTG	0.701000														23			3		0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79314027	79314027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:79314027G>A	uc002sny.2	-	2	206	c.94C>T	c.(94-96)Ccc>Tcc	p.P32S	REG1B_uc010ffv.1_Missense_Mutation_p.P32S|REG1B_uc010ffw.3_Missense_Mutation_p.P32S	NM_006507	NP_006498	P48304	REG1B_HUMAN	Homo sapiens regenerating islet-derived 1 beta (REG1B), mRNA.	32					cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						CTGATTCGGGGATTAGGCAGC	0.493000														98			68		0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166927016	166927016	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:166927016C>T	uc001gdx.2	-	1	425	c.369G>A	c.(367-369)acG>acA	p.T123T		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	123	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CATGAACAATCGTGATCTCTC	0.448000														59			29		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64619401	64619401	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:64619401C>A	uc003dmg.3	-	12	2043	c.2011G>T	c.(2011-2013)Gtg>Ttg	p.V671L	ADAMTS9_uc011bfo.2_Missense_Mutation_p.V643L|ADAMTS9_uc003dmh.1_Missense_Mutation_p.V500L|ADAMTS9_uc003dmk.1_Missense_Mutation_p.V671L	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	671	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACCCAGCGCACATTGGGAAGC	0.512000														177			321		2.95463e-139	2.99946e-139	1	1	0
SSPO	23145	broad.mit.edu	37	7	149506157	149506157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:149506157C>T	uc010lpk.3	+	62	9140	c.9140C>T	c.(9139-9141)tCt>tTt	p.S3047F		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3050	TSP type-1 10.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCCTTGGTCTCCGTGCTCC	0.687000														4			19		0	0	1	0	0
IHH	3549	broad.mit.edu	37	2	219920526	219920526	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:219920526C>T	uc002vjo.2	-	2	688	c.639G>A	c.(637-639)gaG>gaA	p.E213E		NM_002181	NP_002172	Q14623	IHH_HUMAN	Homo sapiens Indian hedgehog (IHH), mRNA.	213					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGCCCCACTCTCCAGGCGTA	0.652000														22			6		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85674877	85674877	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:85674877G>A	uc003hpd.3	-	34	6120	c.5712C>T	c.(5710-5712)ccC>ccT	p.P1904P		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1904						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAATATTGAAGGGGAAGACGG	0.458000														58			16		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996313	140996313	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:140996313G>A	uc004fbt.3	+	3	3447	c.3123G>A	c.(3121-3123)agG>agA	p.R1041R	MAGEC1_uc010nsl.2_Silent_p.R108R|MAGEC1_uc022cfi.1_Silent_p.R700R	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	1041	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGCCCAGGGAGCTCCTCA	0.557000										HNSCC(15;0.026)				43			39		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179659850	179659850	+	Silent	SNP	C	T	T	rs144392545		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:179659850C>T	uc010pnp.2	+	17	3398	c.2880C>T	c.(2878-2880)atC>atT	p.I960I	TDRD5_uc021pfm.1_Silent_p.I906I|TDRD5_uc001gnf.2_Silent_p.I906I|TDRD5_uc021pfn.1_Silent_p.I960I|TDRD5_uc001gnh.2_Silent_p.I461I	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	906					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.A959S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CACCAGAGATCCTAAAGAATG	0.408000														28			31		0	0	1	0	0
PFKM	5213	broad.mit.edu	37	12	48501970	48501970	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:48501970C>T	uc001rrb.2	+	2	472	c.198C>T	c.(196-198)ttC>ttT	p.F66F	SENP1_uc001rqw.3_5'Flank|SENP1_uc001rqx.3_5'Flank|SENP1_uc001rqy.3_5'Flank|SENP1_uc001rqz.3_5'Flank|SENP1_uc009zkx.3_5'Flank|PFKM_uc001rra.2_5'UTR	NM_001166686	NP_001160160	P08237	K6PF_HUMAN	Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA.	0					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TACCTGTTTTCAAAACTGGTG	0.423000														93			27		0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56058264	56058264	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:56058264G>A	uc010rje.2	-	0	275	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GCCCATGAAGGAAATATAGTT	0.398000														145			50		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20793112	20793112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:20793112G>A	uc010kuh.3	+	26	3796	c.3559G>A	c.(3559-3561)Gat>Aat	p.D1187N	ABCB5_uc003suw.4_Missense_Mutation_p.D742N	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	742					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTCAGCCCTCGATAATGACAG	0.393000														84			31		0	0	1	0	0
ENTPD3	956	broad.mit.edu	37	3	40457329	40457329	+	Splice_Site	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:40457329A>T	uc003ckd.4	+	7	690	c.598_splice	c.e7-2	p.K200_splice	ENTPD3_uc010hhy.3_Splice_Site_p.K200_splice|ENTPD3-AS1_uc003cke.4_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA.	200						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		CCCACTGTGCAGAAGAACCTG	0.537000														10			20		0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52091390	52091390	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52091390C>T	uc002pxb.3	+	4	2184	c.1806C>T	c.(1804-1806)ttC>ttT	p.F602F	AX748312_uc002pxc.1_5'Flank	NM_007147	NP_009078	Q9Y473	ZN175_HUMAN	Homo sapiens zinc finger protein 175 (ZNF175), mRNA.	602					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GGTCAAATTTCCATAAACATC	0.423000														136			36		0	0	1	0	0
WIF1	11197	broad.mit.edu	37	12	65471549	65471549	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:65471549C>T	uc001ssk.3	-	2	749	c.374G>A	c.(373-375)gGa>gAa	p.G125E		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA.	125	WIF.				Wnt receptor signaling pathway|multicellular organismal development	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		AGGCACTGTTCCCAGCAGAGG	0.443000			T	HMGA2	pleomorphic salivary gland adenoma									41			13		0	0	1	0	0
RFX2	5990	broad.mit.edu	37	19	6007026	6007026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:6007026G>A	uc002meb.3	-	11	1668	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S	RFX2_uc002mec.3_Missense_Mutation_p.P442S|AX748210_uc002med.1_3'UTR	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CACTTACTGGGGACCGGCCTC	0.617000														29			15		0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871070	170871070	+	Silent	SNP	G	A	A	rs142508797	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:170871070G>A	uc003qxu.3	+	2	525	c.246G>A	c.(244-246)caG>caA	p.Q82Q	TBP_uc011ehf.2_Silent_p.Q62Q|TBP_uc003qxt.3_Silent_p.Q82Q|TBP_uc011ehg.1_Silent_p.Q82Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	82	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q81Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.587000														10			8		0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31124435	31124435	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:31124435C>T	uc003tca.2	+	7	811	c.522C>T	c.(520-522)atC>atT	p.I174I	ADCYAP1R1_uc003tcg.3_Silent_p.I174I|ADCYAP1R1_uc003tce.2_Silent_p.I174I|ADCYAP1R1_uc003tcb.2_Silent_p.I153I|ADCYAP1R1_uc003tcc.2_Silent_p.I174I|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	174					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CCATGGTCATCCTTTGTCGCT	0.572000														131			38		0	0	1	0	0
NUFIP1	26747	broad.mit.edu	37	13	45515448	45515448	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:45515448G>A	uc001uzp.2	-	9	1423	c.1381C>T	c.(1381-1383)Ccg>Tcg	p.P461S		NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA.	461					RNA processing|box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|RNA binding|identical protein binding|protein binding, bridging|zinc ion binding	p.P461S(2)|p.P461L(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		CGAATGTCCGGAGCTAGAAGC	0.318000														19			9		0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8100445	8100445	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:8100445C>T	uc001ijz.3	+	2	976	c.419C>T	c.(418-420)tCc>tTc	p.S140F	GATA3_uc001ika.3_Missense_Mutation_p.S140F	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	140	Poly-Ser.				T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCGTCCTCCTCCTTGTCGGGG	0.721000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""							67			24		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31133833	31133833	+	Silent	SNP	C	T	T	rs71746075		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:31133833C>T	uc002rns.3	-	15	2248	c.1608G>A	c.(1606-1608)aaG>aaA	p.K536K	GALNT14_uc002rnq.3_Silent_p.K511K|GALNT14_uc010ymr.2_Silent_p.K496K|GALNT14_uc002rnr.3_Silent_p.K531K	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	531	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.V535I(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CGACGATTTCCTTGCCGTTCT	0.552000														35			143		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31284775	31284775	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:31284775C>T	uc002ebr.3	+	7	892	c.794C>T	c.(793-795)cCc>cTc	p.P265L	ITGAM_uc002ebq.3_Missense_Mutation_p.P265L|ITGAM_uc010cam.1_5'Flank	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	265	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TTTGGCGATCCCTTGGGATAT	0.502000														25			19		0	0	1	0	0
GML	2765	broad.mit.edu	37	8	143927900	143927901	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:143927900_143927901GG>AA	uc003yxg.3	+	3	361_362	c.271_272GG>AA	c.(271-273)gga>AAa	p.G91K		NM_002066	NP_002057	Q99445	GML_HUMAN	Homo sapiens glycosylphosphatidylinositol anchored molecule like protein (GML), mRNA.	91	UPAR/Ly6.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|apoptosis|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGAAGCCCCAGGAAAAATCTTC	0.386000														32			7		0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247836279	247836279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:247836279C>T	uc001idi.1	-	0	65	c.65G>A	c.(64-66)gGa>gAa	p.G22E		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	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;0.017)			GAAGATAATTCCCTGGAGTTC	0.428000														30			28		0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159176192	159176192	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:159176192C>T	uc001ftp.4	+	0	1144	c.969C>T	c.(967-969)ctC>ctT	p.L323L	DARC_uc001fto.3_Silent_p.L321L	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.	321					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CTCTGCCCCTCCCTGAAGGAT	0.557000														199			213		0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44102363	44102363	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:44102363C>T	uc002rtq.3	+	10	1657	c.1567C>T	c.(1567-1569)Cca>Tca	p.P523S	ABCG8_uc010yoa.2_Missense_Mutation_p.P522S	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	523	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAACCTGAGGCCAGGCCTCCA	0.622000														701			112		0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810885	123810885	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:123810885G>A	uc001pzk.1	+	0	562	c.562G>A	c.(562-564)Gcc>Acc	p.A188T		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GATCAAATTGGCCTGCACAGA	0.468000														48			44		0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112485485	112485485	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:112485485A>C	uc001ttm.3	-	16	2048	c.1990T>G	c.(1990-1992)Tgg>Ggg	p.W664G	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Missense_Mutation_p.W636G|NAA25_uc009zwa.2_Missense_Mutation_p.W664G	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	664						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TTTGGATCCCAGCTGAAAAAA	0.348000														129			107		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30700699	30700699	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:30700699G>A	uc003xil.3	-	0	5835	c.5835C>T	c.(5833-5835)tcC>tcT	p.S1945S		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1945										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCCCAATAGGGGAAATTGGTT	0.338000														22			43		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50957825	50957825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:50957825C>T	uc009xog.3	-	6	1049	c.1015G>A	c.(1015-1017)Gac>Aac	p.D339N	OGDHL_uc001jie.3_Missense_Mutation_p.D312N|OGDHL_uc010qgt.2_Missense_Mutation_p.D255N|OGDHL_uc010qgu.2_Missense_Mutation_p.D103N|OGDHL_uc009xoh.2_Missense_Mutation_p.D103N	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	312					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						TGCTCCAGGTCCTTGCGGATC	0.667000														7			3		0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149902842	149902842	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:149902842G>A	uc001etl.4	-	13	1557	c.1306C>T	c.(1306-1308)Ctc>Ttc	p.L436F	SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Missense_Mutation_p.L364F|MTMR11_uc010pbm.1_Missense_Mutation_p.P352L|MTMR11_uc010pbn.1_3'UTR	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	436	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TCAAGGAAGAGGAGAAACACC	0.473000														20			25		0	0	1	0	0
GPR126	57211	broad.mit.edu	37	6	142630688	142630688	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:142630688C>T	uc010khe.3	+	1	421	c.10C>T	c.(10-12)Cgc>Tgc	p.R4C	GPR126_uc010khc.3_Missense_Mutation_p.R4C|GPR126_uc010khd.3_Missense_Mutation_p.R4C|GPR126_uc010khf.3_Missense_Mutation_p.R4C|GPR126_uc003qix.2_Missense_Mutation_p.R4C	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	4					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CAGGATGTTTCGCTCAGATCG	0.398000														6			8		0	0	1	0	0
OTOP2	92736	broad.mit.edu	37	17	72926630	72926630	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:72926630C>T	uc010wrp.2	+	5	992	c.900C>T	c.(898-900)ttC>ttT	p.F300F		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	300						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TGCTGCTCTTCGTGGTGGGGC	0.617000														63			29		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189869012	189869012	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:189869012G>A	uc002uqj.1	+	39	2970	c.2853G>A	c.(2851-2853)ggG>ggA	p.G951G		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	951	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGATTGCTGGGATCACTGGAG	0.493000														18			5		0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900372	151900372	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:151900372G>A	uc022chj.1	-	0	429	c.429C>T	c.(427-429)ttC>ttT	p.F143F	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Silent_p.F143F|MAGEA12_uc022chi.1_Silent_p.F143F|MAGEA12_uc004fgc.3_Silent_p.F143F|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	143	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAGTCCTGGAAATTTCTGA	0.507000														44			64		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3165341	3165341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:3165341C>T	uc022aqr.1	-	24	4216	c.3826G>A	c.(3826-3828)Gaa>Aaa	p.E1276K	CSMD1_uc011kwj.2_Missense_Mutation_p.E669K|CSMD1_uc003wqe.3_Missense_Mutation_p.E433K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1277	Sushi 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCACCACATTCCGCTGTAGAA	0.453000														70			14		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39265585	39265585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:39265585G>A	uc001uwv.3	+	0	4413	c.4104G>A	c.(4102-4104)atG>atA	p.M1368I		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1368					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.G1367A(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CACTGGGCATGAATTTTACCC	0.393000														17			28		0	0	1	0	0
CCL14	6358	broad.mit.edu	37	17	34313636	34313636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:34313636G>A	uc010wcr.1	-	0	129	c.50C>T	c.(49-51)gCc>gTc	p.A17V	CCL14_uc010wcq.1_Missense_Mutation_p.A17V|CCL14_uc002hkn.2_Non-coding_Transcript|CCL15_uc010wcs.2_Non-coding_Transcript|CCL15_uc010wct.2_Non-coding_Transcript|BC070118_uc002hkq.3_Non-coding_Transcript	NM_032963	NP_116739	Q16627	CCL14_HUMAN	Homo sapiens chemokine (C-C motif) ligand 14 (CCL14), transcript variant 3, mRNA.	17					cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity	p.A17T(1)		large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGTCCCTAGGGCGATGGTGAT	0.562000														52			15		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103138606	103138606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:103138606G>A	uc022ajr.1	-	53	8921	c.8761C>T	c.(8761-8763)Ctt>Ttt	p.L2921F	RELN_uc022ajq.1_Missense_Mutation_p.L2921F|RELN_uc010liz.3_Missense_Mutation_p.L2921F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2921					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)		TCCTCGGCAAGAATTCCACAC	0.433000														74			14		0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31395680	31395680	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:31395680C>T	uc002wyc.3	+	22	2854	c.2533C>T	c.(2533-2535)Cct>Tct	p.P845S	DNMT3B_uc002wyd.3_Missense_Mutation_p.P825S|DNMT3B_uc002wye.3_Missense_Mutation_p.P762S|DNMT3B_uc010ztz.2_Missense_Mutation_p.P720S|DNMT3B_uc010zua.2_Missense_Mutation_p.P686S|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Missense_Mutation_p.P837S|DNMT3B_uc002wyg.3_Missense_Mutation_p.P481S|DNMT3B_uc010geg.3_Missense_Mutation_p.P104L|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.	845					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						CCTCTTCGCCCCTCTGAAGGA	0.607000														69			34		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716761	13716761	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:13716761G>A	uc001rbt.2	-	12	3590	c.3411C>T	c.(3409-3411)ttC>ttT	p.F1137F		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1137					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|glycine binding|zinc ion binding	p.F1137L(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCTTTGTTCGGAACTGGTCCA	0.602000														52			14		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089314	86089314	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:86089314C>T	uc021rxf.1	+	0	1456	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	FLRT2_uc001xvr.3_Nonsense_Mutation_p.R486*|FLRT2_uc010atd.3_Nonsense_Mutation_p.R486*	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	486	Fibronectin type-III.		R -> Q (in dbSNP:rs17646457).		cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.R486R(2)|p.R486Q(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTTAGAGCCCCGATCCACCTA	0.522000														89			25		0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	95027254	95027254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:95027254G>A	uc004art.1	-	15	1914	c.1657C>T	c.(1657-1659)Cct>Tct	p.P553S	IARS_uc004ars.1_Missense_Mutation_p.P398S|IARS_uc004aru.3_Missense_Mutation_p.P553S|IARS_uc010mqr.2_Missense_Mutation_p.P443S|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	553					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AAATCTGCAGGAAAAGCATCC	0.433000														2			16		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76528619	76528619	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:76528619C>T	uc010dhp.2	-	19	3184	c.3059G>A	c.(3058-3060)tGg>tAg	p.W1020*		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTCATCTGTCCAGGTGTCCAA	0.552000														14			6		0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44793189	44793189	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:44793189G>A	uc002oza.4	-	4	502	c.399C>T	c.(397-399)ttC>ttT	p.F133F	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Silent_p.F129F	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GGTGCTTGGGGAACTGAGAGC	0.453000														85			54		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10219109	10219109	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10219109C>T	uc002gmk.1	-	28	3975	c.3885G>A	c.(3883-3885)gtG>gtA	p.V1295V		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1295					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCTTCTCTTCCACTCGGTGGC	0.577000														48			19		0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921291	247921291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:247921291G>A	uc010pza.2	-	0	418	c.418C>T	c.(418-420)Ctt>Ttt	p.L140F		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGGACACAAAGGCACAGGTTC	0.493000														70			15		0	0	1	0	0
WNT10B	7480	broad.mit.edu	37	12	49361921	49361921	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49361921G>A	uc001rss.3	-	3	963	c.519C>T	c.(517-519)ttC>ttT	p.F173F	WNT10B_uc001rst.3_Intron	NM_003394	NP_003385	O00744	WN10B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10B (WNT10B), mRNA.	173					Wnt receptor signaling pathway, calcium modulating pathway|axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						GAGAGTGGGGGAAACTCTTGC	0.637000														22			14		0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17575650	17575650	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:17575650C>T	uc001bai.3	+	0	58	c.18C>T	c.(16-18)atC>atT	p.I6I		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	6					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)	TGCAGAGAATCGTGCGTGTGT	0.597000														49			9		0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100547832	100547833	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:100547832_100547833CC>TT	uc004ehb.3	-	0	227_228	c.201_202GG>AA	c.(199-204)gcggac>gcAAac	p.D68N	TAF7L_uc004ehc.2_5'Flank	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	68					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GCGCTGCTGTCCGCATCCGTTT	0.579000														35			38		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151970883	151970883	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:151970883G>A	uc003wla.3	-	6	1138	c.919C>T	c.(919-921)Cat>Tat	p.H307Y		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	307					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CAAGGATAATGATACATCTGG	0.438000			N		medulloblastoma									130			10		0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17855836	17855836	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:17855836G>A	uc003ncg.4	-	5	486	c.326C>T	c.(325-327)tCc>tTc	p.S109F	KIF13A_uc003ncf.3_Missense_Mutation_p.S109F|KIF13A_uc003nch.4_Missense_Mutation_p.S109F|KIF13A_uc003nci.4_Missense_Mutation_p.S109F	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	109	Kinesin-motor.				Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CATGGAAAAGGATTTTCCCGA	0.463000														45			6		0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28491141	28491141	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:28491141C>T	uc001iua.1	-	4	501	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.E33K|MPP7_uc009xla.2_Missense_Mutation_p.E33K|MPP7_uc010qdv.1_Intron	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	33	L27 1.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GTCAGGTCTTCCTGGCTATCC	0.433000														51			14		0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26527421	26527421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:26527421G>A	uc010oez.2	+	7	1088	c.1088G>A	c.(1087-1089)gGa>gAa	p.G363E	CATSPER4_uc010oey.1_Missense_Mutation_p.G185E|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	363					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	p.G363R(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTTGCGGGAGGCCCCCTG	0.562000														8			54		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26890591	26890591	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:26890591G>A	uc003jgs.1	-	7	1505	c.1336C>T	c.(1336-1338)Ctt>Ttt	p.L446F	CDH9_uc011cnv.1_Missense_Mutation_p.L39F	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	446	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L446I(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCCCGGTCAAGGGCTTTCAAA	0.423000														46			18		0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825533	4825533	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:4825533G>A	uc021qcs.1	-	0	78	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCACAACTGGAAACTCTCCA	0.502000														28			8		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32554740	32554740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:32554740G>A	uc002yow.1	-	15	3357	c.2885C>T	c.(2884-2886)cCa>cTa	p.P962L	TIAM1_uc011adk.1_Missense_Mutation_p.P962L|TIAM1_uc011adl.1_Missense_Mutation_p.P902L	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	962					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGCCATACCTGGGTTGCTGGT	0.637000														12			9		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124165034	124165034	+	Missense_Mutation	SNP	G	A	A	rs77832285		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:124165034G>A	uc003ehg.3	+	19	3461	c.3334G>A	c.(3334-3336)Gag>Aag	p.E1112K	KALRN_uc010hrv.1_Missense_Mutation_p.E1103K|KALRN_uc003ehf.1_Missense_Mutation_p.E1112K|KALRN_uc011bjy.1_Missense_Mutation_p.E1103K|KALRN_uc003ehh.1_Missense_Mutation_p.E458K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1112					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						CCTGCAGAGGGAGAATCGCGT	0.567000														35			10		0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47755579	47755579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:47755579C>T	uc009ylv.3	-	9	1837	c.1684G>A	c.(1684-1686)Gag>Aag	p.E562K	FNBP4_uc001ngj.3_Missense_Mutation_p.E469K|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	562										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						AGACTTACCTCAGTCTGTAAG	0.348000														15			5		0	0	1	0	0
C2orf89	129293	broad.mit.edu	37	2	85051084	85051084	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:85051084C>A	uc010ysl.2	-	5	1416	c.1327G>T	c.(1327-1329)Gag>Tag	p.E443*	C2orf89_uc002sou.4_Nonsense_Mutation_p.E394*	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	443						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						GACCTCTCCTCCAGGCGGACC	0.647000														13			6		0.0293803	0.0293913	1	1	0
MAP4K2	5871	broad.mit.edu	37	11	64563863	64563863	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:64563863C>T	uc001obh.3	-	24	1726	c.1634_splice	c.e24-1	p.G545_splice	MAP4K2_uc001obi.3_Splice_Site_p.G537_splice	NM_004579	NP_004570	Q12851	M4K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.	545	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	Golgi membrane|basolateral plasma membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GTGGATTTCCCTGCAGAAACA	0.642000														35			12		0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58718331	58718331	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58718331C>T	uc002qrq.1	+	4	960	c.501C>T	c.(499-501)ttC>ttT	p.F167F	ZNF274_uc010yhu.1_Non-coding_Transcript|ZNF274_uc010yhv.1_Non-coding_Transcript|ZNF274_uc002qrr.1_Silent_p.F135F|ZNF274_uc002qrs.1_Silent_p.F62F|ZNF274_uc010eum.1_5'UTR	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	167	SCAN box.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TCCGGCAGTTCCGTTATAAGG	0.617000														4			4		0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060963	111060963	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:111060963C>T	uc001dzt.1	-	0	835	c.447G>A	c.(445-447)ggG>ggA	p.G149G		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	149						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GCCGAATTTTCCCACCAGATT	0.448000														23			22		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088141	86088141	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:86088141C>T	uc021rxf.1	+	0	283	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	FLRT2_uc001xvr.3_Silent_p.L95L|FLRT2_uc010atd.3_Silent_p.L95L	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	95					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.L95L(2)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CACGGTCTACCTGTATGGCAA	0.478000														94			23		0	0	1	0	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217281	26217281	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:26217281C>T	uc003nha.1	+	0	134	c.79C>T	c.(79-81)Cca>Tca	p.P27S	HIST1H2BG_uc003ngz.2_5'Flank	NM_021052	NP_066390	P04908	H2A1B_HUMAN	Homo sapiens histone cluster 1, H2ae (HIST1H2AE), mRNA.	27					nucleosome assembly	nucleosome|nucleus	DNA binding	p.P27L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TCTTCAGTTTCCAGTTGGCCG	0.587000														53			12		0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542915	14542915	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:14542915C>T	uc010dln.3	-	0	685	c.231G>A	c.(229-231)acG>acA	p.T77T	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	77								p.T77T(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CCACGTTGCTCGTGCCGCTCC	0.577000														259			17		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452587	138452587	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:138452587G>A	uc003ihe.4	-	0	1043	c.656C>T	c.(655-657)tCa>tTa	p.S219L	PCDH18_uc003ihf.4_Missense_Mutation_p.S212L|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_5'UTR|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	219	Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCCCATGTCTGAGGCAGTGAG	0.473000														34			39		0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127438010	127438010	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:127438010C>T	uc001liq.1	+	21	3446	c.3153C>T	c.(3151-3153)caC>caT	p.H1051H	C10orf137_uc001lip.1_Silent_p.H755H|C10orf137_uc001lio.1_Silent_p.H1017H|C10orf137_uc001lis.1_Silent_p.H377H|C10orf137_uc001lit.1_5'UTR	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	1051					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGAAACAACACCGGGTGCTGG	0.468000														11			38		0	0	1	0	0
LINGO3	645191	broad.mit.edu	37	19	2291343	2291343	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:2291343T>G	uc010dsx.1	-	1	561	c.433A>C	c.(433-435)Act>Cct	p.T145P	SPPL2B_uc010dsw.1_Intron|LINGO3_uc021ums.1_Missense_Mutation_p.T145P|AX747191_uc002lvo.1_Missense_Mutation_p.S52R	NM_001101391	NP_001094861	P0C6S8	LIGO3_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 3 (LINGO3), mRNA.	145						integral to membrane				lung(1)|urinary_tract(1)	2						TCCTGGAAAGTGTAGTCCAGC	0.647000														13			27		0	0	1	0	0
CRK	1398	broad.mit.edu	37	17	1340260	1340260	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:1340260T>A	uc002fsl.3	-	1	581	c.431A>T	c.(430-432)aAt>aTt	p.N144I	CRK_uc002fsm.3_Missense_Mutation_p.N144I	NM_016823	NP_058431	P46108	CRK_HUMAN	Homo sapiens v-crk sarcoma virus CT10 oncogene homolog (avian) (CRK), transcript variant II, mRNA.	144	SH3 1.				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	SH2 domain binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		ATCATTCCCATTAAAGTCAAA	0.507000														69			23		0	0	1	0	0
ZNF420	147923	broad.mit.edu	37	19	37618501	37618501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:37618501C>T	uc002ofl.3	+	4	823	c.608C>T	c.(607-609)gCc>gTc	p.A203V		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	Homo sapiens zinc finger protein 420 (ZNF420), mRNA.	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGGGAAGGCCTTTACTCAA	0.398000														20			13		0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120022100	120022100	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:120022100G>A	uc003ksq.3	+	1	774	c.611G>A	c.(610-612)cGa>cAa	p.R204Q	PRR16_uc003ksp.3_Missense_Mutation_p.R181Q|PRR16_uc003ksr.3_Missense_Mutation_p.R134Q	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	204	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CCTCGAGAACGAGTTCGGTTT	0.468000														17			20		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56182252	56182252	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:56182252G>A	uc002lhj.4	-	9	6216	c.6002C>T	c.(6001-6003)cCt>cTt	p.P2001L		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	2001	Alpha-type protein kinase.						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						GCCTTCCAGAGGCTGTGCTTC	0.478000														16			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179430272	179430272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179430272C>T	uc021vsy.1	-	274	73108	c.72883G>A	c.(72883-72885)Gat>Aat	p.D24295N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D17990N|TTN_uc021vta.1_Missense_Mutation_p.D17923N|TTN_uc021vtb.1_Missense_Mutation_p.D17798N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25222	Fibronectin type-III 76.						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)			ACTCTTGGATCGCTTTTTCCT	0.403000														87			33		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864629	13864629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:13864629C>T	uc003jfd.2	-	27	4515	c.4473G>A	c.(4471-4473)atG>atA	p.M1491I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1491	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)					GCCGCTCCATCATGGCTTTAC	0.502000									Kartagener syndrome					37			11		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92159533	92159533	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:92159533G>A	uc001xzs.1	-	8	908	c.768C>T	c.(766-768)atC>atT	p.I256I		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	256					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AAGAGGTGAGGATAACTAAAA	0.328000														65			38		0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26694168	26694168	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:26694168C>T	uc001bmg.1	-	2	353	c.235G>A	c.(235-237)Gac>Aac	p.D79N	ZNF683_uc001bmh.1_Missense_Mutation_p.D79N|ZNF683_uc009vsj.1_Missense_Mutation_p.D79N	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	79					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)		AGGTCCAGGTCCTGTAGGCAG	0.652000														9			6		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107083417	107083417	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:107083417C>T	uc021ser.1	-	130		c.5753G>A								Parts of antibodies, mostly variable regions.																		CACTCCAGTCCCTTCCCTGGG	0.547000														79			53		0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33493201	33493201	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:33493201C>T	uc002nuf.3	-	8	1123	c.1057G>A	c.(1057-1059)Gcg>Acg	p.A353T	RHPN2_uc010xro.2_Missense_Mutation_p.A202T|RHPN2_uc002nue.3_Missense_Mutation_p.A83T	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA.	353	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding	p.A353T(4)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GCCAGGGCCGCGTAGTGGTGG	0.642000														50			6		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32041572	32041572	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:32041572C>T	uc003nzl.2	-	11	4735	c.4533G>A	c.(4531-4533)aaG>aaA	p.K1511K		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1598	Fibronectin type-III 7.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTGCCCGTCCTTGTCCTTGT	0.567000														450			108		0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52941580	52941580	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52941580G>A	uc002pzk.3	+	3	973	c.906G>A	c.(904-906)agG>agA	p.R302R	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Silent_p.R289R	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACAGCATAGGAAAATTCATA	0.398000														22			6		0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97096790	97096790	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:97096790G>A	uc001kkp.3	-	27	3172	c.3127C>T	c.(3127-3129)Cgt>Tgt	p.R1043C	SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Intron|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.R997C|SORBS1_uc010qoe.2_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	1043					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GGGGTGGGACGATCTGACCAA	0.562000														51			10		0	0	1	0	0
DYRK1B	9149	broad.mit.edu	37	19	40320539	40320539	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:40320539C>T	uc002omj.3	-	4	781	c.501G>A	c.(499-501)acG>acA	p.T167T	DYRK1B_uc002omi.3_Silent_p.T167T|DYRK1B_uc002omk.3_Silent_p.T167T	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.	167	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			ACTTCATCTCCGTGTCATGCT	0.577000														16			7		0	0	1	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17055912	17055912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:17055912C>T	uc003wxe.3	+	5	863	c.466C>T	c.(466-468)Cat>Tat	p.H156Y		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA.	156						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		GATGGATCATCATTGTCCATG	0.264000														17			8		0	0	1	0	0
ZNF580	51157	broad.mit.edu	37	19	56153915	56153915	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56153915C>T	uc002qlo.3	+	1	211	c.41C>T	c.(40-42)tCc>tTc	p.S14F	ZNF581_uc002qln.3_Intron|ZNF580_uc002qlp.3_Missense_Mutation_p.S14F|ZNF580_uc010ygd.2_Missense_Mutation_p.S14F|ZNF581_uc002qlq.3_5'Flank|ZNF581_uc021vcb.1_5'Flank	NM_207115	NP_996998	Q9UK33	ZN580_HUMAN	Homo sapiens zinc finger protein 580 (ZNF580), transcript variant 2, mRNA.	14	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCTCGGTCCTCCTCTCCGGAG	0.692000														27			10		0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185138772	185138772	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:185138772G>A	uc003iwc.3	-	0	343	c.201C>T	c.(199-201)ttC>ttT	p.F67F		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	67					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		AGAGACTAGGGAAGTCTGGAG	0.502000														61			28		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48745836	48745836	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:48745836G>A	uc002isl.3	+	13	1908	c.1828G>A	c.(1828-1830)Gaa>Aaa	p.E610K		NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	610					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GAGCCAAGAGGAACTTGACCC	0.567000														41			36		0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88652080	88652080	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:88652080G>A	uc001xwm.3	-	6	1553	c.1431C>T	c.(1429-1431)atC>atT	p.I477I	KCNK10_uc001xwn.3_Silent_p.I477I|KCNK10_uc001xwo.3_Silent_p.I472I	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	472					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AGGTCTTGTAGATTTTCTGAA	0.502000														63			55		0	0	1	0	0
FAM21C	253725	broad.mit.edu	37	10	46281030	46281030	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:46281030C>T	uc001jcu.3	+	25	2880	c.2762C>T	c.(2761-2763)tCc>tTc	p.S921F	FAM21C_uc010qfk.2_Intron|FAM21C_uc010qfi.2_Missense_Mutation_p.S846F|FAM21C_uc010qfj.2_Missense_Mutation_p.S111F|FAM21C_uc001jcw.3_5'Flank	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN	Homo sapiens family with sequence similarity 21, member C (FAM21C), transcript variant 1, mRNA.	921										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CATCCTGAATCCATTCAAGGT	0.363000														54			23		0	0	1	0	0
ORM1	5004	broad.mit.edu	37	9	117087361	117087361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:117087361G>A	uc004bik.4	+	4	580	c.469G>A	c.(469-471)Gga>Aga	p.G157R	ORM1_uc011lxo.2_Intron	NM_000607	NP_000598	P02763	A1AG1_HUMAN	Homo sapiens orosomucoid 1 (ORM1), mRNA.	157					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	GGAGCAACTGGGAGAGTTCTA	0.597000														23			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179636172	179636172	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179636172C>T	uc021vsy.1	-	33	8107	c.7882G>A	c.(7882-7884)Gat>Aat	p.D2628N	TTN_uc021vsz.1_Missense_Mutation_p.D2582N|TTN_uc021vta.1_Missense_Mutation_p.D2582N|TTN_uc021vtb.1_Missense_Mutation_p.D2582N|TTN_uc002unb.2_Missense_Mutation_p.D2628N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2628	Ig-like 15.						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)			ACGGTCTGATCTGTGAGTGGC	0.453000														38			10		0	0	1	0	0
MIR1179	100302235	broad.mit.edu	37	15	89151413	89151413	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:89151413C>T	uc021suc.1	+	0		c.76C>T								Homo sapiens microRNA 1179 (MIR1179), microRNA.																		TGCCATTTATCCTTTTCTGAC	0.438000														30			33		0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72509663	72509663	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:72509663G>A	uc001jrg.3	+	15	2358	c.2358G>A	c.(2356-2358)ctG>ctA	p.L786L	ADAMTS14_uc001jrh.3_Silent_p.L783L	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	783	Spacer.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCATGGGCCTGGAGTGGGAGG	0.642000														47			20		0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101198190	101198190	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:101198190G>A	uc001dti.3	+	6	1963	c.1742G>A	c.(1741-1743)gGa>gAa	p.G581E	VCAM1_uc010ouj.2_Missense_Mutation_p.G519E|VCAM1_uc001dtj.3_Missense_Mutation_p.G489E	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	581	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTATGTGAAGGAATTAACCAG	0.408000														29			22		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55144765	55144765	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55144765C>T	uc002qgj.3	+	7	1597	c.1257C>T	c.(1255-1257)gtC>gtT	p.V419V	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.V419V|LILRB1_uc002qgk.3_Silent_p.V419V|LILRB1_uc002qgm.3_Silent_p.V419V|LILRB1_uc010erq.3_Silent_p.V419V|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	419					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGCTCGTGGTCTCAGGTGGGG	0.637000										HNSCC(37;0.09)				54			19		0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95847805	95847805	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:95847805C>T	uc002suf.3	+	4	1694	c.1232C>T	c.(1231-1233)tCt>tTt	p.S411F	ZNF2_uc002sug.3_Missense_Mutation_p.S369F|ZNF2_uc010yue.2_Missense_Mutation_p.S373F|ZNF2_uc010fhs.3_Missense_Mutation_p.S331F	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	Homo sapiens zinc finger protein 2 (ZNF2), transcript variant 1, mRNA.	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		AGTTCAAAATCTTCTGTTATT	0.488000														47			9		0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372964	24372964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:24372964G>A	uc002dmf.3	+	3	1930	c.728G>A	c.(727-729)aGa>aAa	p.R243K		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	243					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ACCGAGCCCAGATCCCGAGAC	0.567000														19			25		0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266247	3266247	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:3266247C>T	uc010uwv.2	+	0	686	c.538C>T	c.(538-540)Ctc>Ttc	p.L180F						Homo sapiens olfactory receptor, family 1, subfamily F, member 2 (OR1F2P), non-coding RNA.																		ATTTCTTTGCCTCCTGGCTTC	0.532000														18			3		0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34922706	34922706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:34922706C>T	uc002yse.1	+	2	1218	c.1169C>T	c.(1168-1170)tCc>tTc	p.S390F	SON_uc002ysb.1_Missense_Mutation_p.S390F|SON_uc002ysc.3_Missense_Mutation_p.S390F|SON_uc002ysd.3_5'UTR|SON_uc002ysf.1_Intron|SON_uc021win.1_Missense_Mutation_p.S36F|SON_uc002ysg.3_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	390					RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CCTGCGACCTCCATGCCGGAG	0.662000														60			26		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81641868	81641868	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:81641868G>A	uc021ssk.1	-	10	1124	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L	TMC3_uc021ssj.1_Missense_Mutation_p.S375L|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.S375L	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	375						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GTCAAAGGCTGATGGTGCTAT	0.582000														15			4		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143074868	143074868	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:143074868G>A	uc003qjd.3	-	9	7460	c.6717C>T	c.(6715-6717)tcC>tcT	p.S2239S		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	2239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTGGCGGCATGGAGTGAACCA	0.552000														15			23		0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42150007	42150007	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:42150007C>T	uc003baz.1	+	16	1933	c.1908C>T	c.(1906-1908)aaC>aaT	p.N636N	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Silent_p.N4N|MEI1_uc003bbc.1_Silent_p.N4N|MEI1_uc010gym.1_Silent_p.N4N	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	636							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGTGCCTCAACCTTCTCTCAG	0.453000														57			27		0	0	1	0	0
NTAN1	123803	broad.mit.edu	37	16	15141896	15141896	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:15141896A>T	uc002ddd.3	-	1	147	c.142T>A	c.(142-144)Tat>Aat	p.Y48N	PDXDC1_uc002ddc.3_Intron|NTAN1_uc010uzo.2_Intron	NM_173474	NP_775745	Q96AB6	NTAN1_HUMAN	Homo sapiens N-terminal asparagine amidase (NTAN1), mRNA.	48						cytoplasm				endometrium(1)|large_intestine(4)|lung(3)	8						TGCTGAACATACAGAAGGCCC	0.403000														89			19		0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133487006	133487006	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:133487006C>T	uc003epu.2	+	17	3348	c.1620C>T	c.(1618-1620)ttC>ttT	p.F540F	TF_uc011blt.2_Silent_p.F413F|TF_uc003epw.2_Intron|TF_uc003epv.2_Silent_p.F540F	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	540	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	p.A539T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CAGGCGCTTTCAGGTGAGTCT	0.423000														10			31		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047030	9047030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9047030G>A	uc002mkp.3	-	4	34805	c.34601C>T	c.(34600-34602)tCa>tTa	p.S11534L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11536	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTTGTCGTTGAAACAGCTGA	0.507000														48			25		0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154480970	154480970	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:154480970G>A	uc021zhc.1	-	21	3198	c.2693C>T	c.(2692-2694)tCc>tTc	p.S898F	OPRM1_uc003qpt.1_Intron|CNKSR3_uc003qpv.3_Missense_Mutation_p.S307F|CNKSR3_uc003qpw.3_Missense_Mutation_p.S437F|CNKSR3_uc003qpx.3_Missense_Mutation_p.S436F|CNKSR3_uc010kjh.3_Missense_Mutation_p.S437F	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	0					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		p.S436F(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GTCTCAAATGGAATTTTCAAC	0.428000														14			15		0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42558547	42558547	+	Silent	SNP	G	A	A	rs150196835	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:42558547G>A	uc002osj.1	-	7	1016	c.981C>T	c.(979-981)atC>atT	p.I327I	GRIK5_uc010eib.1_Silent_p.I246I	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	327						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GCTTCACACCGATCTCCTGGC	0.652000														37			25		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119474246	119474246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:119474246C>T	uc001ehl.1	-	1	412	c.97G>A	c.(97-99)Ggc>Agc	p.G33S		NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	139						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CCTTACCTGCCTGCTTTGGTG	0.433000														24			28		0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20081642	20081642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:20081642C>T	uc010nfo.2	-	2	379	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	MAP7D2_uc011mji.2_Missense_Mutation_p.E44K|MAP7D2_uc004czr.2_Missense_Mutation_p.E88K|MAP7D2_uc011mjj.2_Missense_Mutation_p.E88K|MAP7D2_uc004czs.1_Missense_Mutation_p.E44K	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	88										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						ATTTGCTTTTCGTACTGCAGC	0.527000														7			31		0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119234529	119234529	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:119234529T>C	uc003ica.2	-	6	1363	c.1316A>G	c.(1315-1317)aAc>aGc	p.N439S		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	439	SRCR 3.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TTCAAAATGGTTGGCAGATGC	0.443000														31			45		0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134179596	134179596	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:134179596C>T	uc009zdf.3	+	10	1398	c.1038C>T	c.(1036-1038)aaC>aaT	p.N346N	GLB1L3_uc010scu.1_Silent_p.N47N|GLB1L3_uc001qho.4_Non-coding_Transcript	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	346					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GTGGAACCAACTTTGGTTTCA	0.478000														3			9		0	0	1	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13400058	13400058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:13400058G>A	uc002gob.1	-	1	1475	c.677C>T	c.(676-678)cCc>cTc	p.P226L		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA.	226						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GATGCGCGCGGGGGCCTCCCG	0.622000														113			16		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538221	55538221	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:55538221G>A	uc003xsd.1	+	3	1927	c.1779G>A	c.(1777-1779)aaG>aaA	p.K593K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	593					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)			CTGGTATCAAGAACTTCAAAA	0.338000														49			45		0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138701769	138701769	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:138701769C>T	uc011mwn.1	-	9	1225	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	MCF2_uc004fav.3_Missense_Mutation_p.E262K|MCF2_uc004fau.3_Missense_Mutation_p.E262K|MCF2_uc010nsh.2_Missense_Mutation_p.E262K|MCF2_uc011mwm.2_Missense_Mutation_p.E223K|MCF2_uc011mwl.2_Missense_Mutation_p.E223K|MCF2_uc011mwo.1_Missense_Mutation_p.E322K|MCF2_uc004faw.2_Missense_Mutation_p.E322K	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	262					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCTAAGTTTTCCAATTTTTTT	0.318000														11			8		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65420575	65420575	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:65420575C>T	uc011moz.2	+	11	2357	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	HEPH_uc004dwn.3_Silent_p.I689I|HEPH_uc004dwo.3_Silent_p.I419I|HEPH_uc010nkr.3_Intron|HEPH_uc011mpa.2_Silent_p.I689I|HEPH_uc010nks.3_5'Flank	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	686	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCATGGCCATCATGCAGCCTG	0.547000														1			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179456953	179456953	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179456953G>A	uc021vsy.1	-	250	52199	c.51974C>T	c.(51973-51975)tCa>tTa	p.S17325L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S11020L|TTN_uc021vta.1_Missense_Mutation_p.S10953L|TTN_uc021vtb.1_Missense_Mutation_p.S10828L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18252	Fibronectin type-III 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P17325Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGGTAACATGAATCTTTCCT	0.388000														6			19		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55350885	55350885	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55350885C>T	uc002qhm.1	+	3	419	c.373C>T	c.(373-375)Cta>Tta	p.L125L	KIR3DL2_uc010yfj.2_Silent_p.L118L|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Silent_p.L125L|KIR3DL2_uc002qhn.1_Intron	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	220					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CCTTCCAGGTCTATATGAGAA	0.572000														53			29		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21106608	21106608	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:21106608C>T	uc001iqi.3	-	20	2466	c.2069G>A	c.(2068-2070)gGa>gAa	p.G690E	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	690					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTGAAGTTCTCCCTTATATTT	0.388000														94			17		0	0	1	0	0
NAPRT1	93100	broad.mit.edu	37	8	144658649	144658649	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:144658649T>C	uc003yyo.4	-	6	1000	c.975A>G	c.(973-975)ctA>ctG	p.L325L	NAPRT1_uc003yym.4_Silent_p.L325L|NAPRT1_uc003yyn.4_Silent_p.L325L|NAPRT1_uc011lkh.2_Silent_p.L325L			Q6XQN6	PNCB_HUMAN	Homo sapiens nicotinate phosphoribosyltransferase domain containing 1 (NAPRT1), mRNA.	325					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	Golgi apparatus|cytosol|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAGCCTGCTGTAGCAGGTCAC	0.652000														25			9		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107219103	107219103	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:107219103G>A	uc021ser.1	-	11		c.761C>T								Parts of antibodies, mostly variable regions.																		TAGCAACAAGGAAAACCCAGC	0.498000														82			56		0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106157383	106157383	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:106157383C>T	uc011cez.2	+	2	2752	c.2347C>T	c.(2347-2349)Cac>Tac	p.H783Y	TET2_uc003hxk.3_Missense_Mutation_p.H762Y|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.H762Y|TET2_uc010ilp.2_Missense_Mutation_p.H762Y|TET2_uc021xql.1_Missense_Mutation_p.H762Y	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	762	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.E782*(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GACTTTTCCTCACCCCCAAAG	0.383000			"""Mis N, F"""		MDS									18			30		0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	65988645	65988645	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:65988645C>T	uc001oha.2	+	9	1354	c.1220C>T	c.(1219-1221)tCg>tTg	p.S407L		NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	407					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GAGGGGATGTCGCAGTCCAGC	0.607000														93			23		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76481970	76481970	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:76481970C>T	uc002fex.1	+	3	748	c.609C>T	c.(607-609)tcC>tcT	p.S203S	CNTNAP4_uc002feu.1_Silent_p.S199S|CNTNAP4_uc002fev.1_Silent_p.S112S|CNTNAP4_uc010chb.1_Silent_p.S175S|CNTNAP4_uc002few.2_Silent_p.S175S	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	200					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						ATCAAAAATCCCTGAGCCCAA	0.383000														3			34		0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1813756	1813756	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:1813756G>T	uc010uvl.2	+	16	2117	c.1997G>T	c.(1996-1998)gGc>gTc	p.G666V	MAPK8IP3_uc002cmk.3_Missense_Mutation_p.G665V|MAPK8IP3_uc002cml.3_Missense_Mutation_p.G655V|MAPK8IP3_uc021tah.1_Missense_Mutation_p.G659V	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	665					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CAGGCCTGCGGCTGGAGCCTG	0.746000														2			6		5.9392e-07	5.96259e-07	1	1	0
FBN2	2201	broad.mit.edu	37	5	127686624	127686624	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:127686624C>T	uc003kuu.3	-	20	3187	c.2748G>A	c.(2746-2748)ctG>ctA	p.L916L	FBN2_uc003kuv.2_Silent_p.L883L	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	916	TB 4.				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)		ATTCAGATTTCAGAGTGGCTC	0.557000														41			20		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49000535	49000535	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:49000535C>T	uc003gyv.3	+	5	954	c.772C>T	c.(772-774)Cgt>Tgt	p.R258C	CWH43_uc011bzl.2_Missense_Mutation_p.R231C	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	258					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						TTTGTGGTTTCGTGGTACTGG	0.443000														30			77		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24923640	24923640	+	Missense_Mutation	SNP	C	T	T	rs146008809		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:24923640C>T	uc001ywo.3	+	0	3100	c.2626C>T	c.(2626-2628)Cct>Tct	p.P876S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	876					cell differentiation|multicellular organismal development|spermatogenesis			p.P876S(2)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CACCAGTTTTCCTGCACAGGC	0.507000														61			57		0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54450050	54450050	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:54450050C>T	uc002iun.1	+	5	689	c.654C>T	c.(652-654)gtC>gtT	p.V218V		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	218										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACACACTGGTCCAGGAAGCCC	0.493000														62			78		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179474049	179474049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179474049C>T	uc021vsy.1	-	221	44509	c.44284G>A	c.(44284-44286)Gga>Aga	p.G14762R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G8457R|TTN_uc021vta.1_Missense_Mutation_p.G8390R|TTN_uc021vtb.1_Missense_Mutation_p.G8265R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15689	Fibronectin type-III 6.						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)			TGAGATTCTCCCTTTTTGCTG	0.463000														16			24		0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	150005324	150005324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:150005324G>A	uc003qmu.1	-	3	1449	c.901C>T	c.(901-903)Cct>Tct	p.P301S	LATS1_uc010kif.1_Missense_Mutation_p.P196S|LATS1_uc003qmv.2_Missense_Mutation_p.P301S|LATS1_uc003qmw.3_Missense_Mutation_p.P301S|LATS1_uc010kig.1_Missense_Mutation_p.P196S	NM_004690	NP_004681	O95835	LATS1_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 1 (Drosophila) (LATS1), mRNA.	301					G2/M transition of mitotic cell cycle|cell division|cytoplasmic sequestering of protein|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GGTGGTGGAGGATAGCCCTCT	0.493000														27			30		0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986440	51986440	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51986440G>A	uc002pwv.1	+	4	1026	c.1026G>A	c.(1024-1026)atG>atA	p.M342I		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	342	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATGCAAAGATGAACCTCTCGA	0.527000														89			25		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106405885	106405885	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106405885C>T	uc021ser.1	-	3033		c.49907G>A								Parts of antibodies, mostly variable regions.																		CTTCACCAGTCCTGGACCTGA	0.552000														25			15		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18027809	18027809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:18027809C>T	uc021trm.1	+	1	3841	c.3622C>T	c.(3622-3624)Cgc>Tgc	p.R1208C	MYO15A_uc021trl.1_Missense_Mutation_p.R1208C	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1208	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCACTCCATCCGCAACCTGCC	0.637000														29			16		0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048009	6048009	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:6048009C>T	uc010qzw.2	-	0	963	c.926G>A	c.(925-927)gGa>gAa	p.G309E		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCTGAATTCCCTGTTTTAT	0.448000														38			15		0	0	1	0	0
ARMS2	387715	broad.mit.edu	37	10	124214456	124214456	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:124214456C>T	uc001lgi.3	+	0	278	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_001099667	NP_001093137	P0C7Q2	ARMS2_HUMAN	Homo sapiens age-related maculopathy susceptibility 2 (ARMS2), nuclear gene encoding mitochondrial protein, mRNA.	71					retina homeostasis	mitochondrion|photoreceptor inner segment				ovary(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGCTAAAATCCACACTGAGC	0.532000														42			12		0	0	1	0	0
C6orf221	154288	broad.mit.edu	37	6	74072893	74072893	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:74072893A>G	uc003pgt.4	+	1	298	c.245A>G	c.(244-246)aAc>aGc	p.N82S		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	82	KH; atypical.									NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						TTGGACCCTAACGGCGAGGCT	0.572000														57			20		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42840346	42840346	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:42840346C>T	uc002otl.4	+	5	1727	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	MEGF8_uc002otm.4_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	364						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTGGCCTCTTCCGTTTCCGCC	0.657000														35			12		0	0	1	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99654906	99654906	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:99654906T>G	uc003uso.3	+	1	421	c.277T>G	c.(277-279)Ttc>Gtc	p.F93V	ZSCAN21_uc011kje.1_Missense_Mutation_p.F92V|ZSCAN21_uc003usn.1_Missense_Mutation_p.F92V	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	Homo sapiens zinc finger and SCAN domain containing 21 (ZSCAN21), mRNA.	93	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GCTGGAGCAGTTCCTGACCAT	0.637000														37			9		0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46839876	46839876	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:46839876G>A	uc001ndi.2	-	2	362	c.236C>T	c.(235-237)gCc>gTc	p.A79V	CKAP5_uc009ylg.1_5'UTR|CKAP5_uc001ndj.2_Missense_Mutation_p.A79V	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	79					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TGCTACATGGGCATTTTCAAC	0.343000														49			34		0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26502023	26502023	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:26502023G>A	uc003nif.4	+	1	342	c.285G>A	c.(283-285)gcG>gcA	p.A95A		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	95	Ig-like V-type 1.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GCGGGCGGGCGACGCTGGTCC	0.662000														39			12		0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122825462	122825462	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:122825462T>C	uc001ucg.2	-	10	2444	c.2289A>G	c.(2287-2289)acA>acG	p.T763T	CLIP1_uc001uch.1_Silent_p.T752T|CLIP1_uc001uci.1_Silent_p.T717T|CLIP1_uc001ucj.1_Intron	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	763					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	p.L762L(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TGAGCTGTGATGTAAAATTAT	0.398000														93			89		0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3739045	3739045	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:3739045G>A	uc010xhv.2	+	11	1643	c.1643G>A	c.(1642-1644)aGc>aAc	p.S548N	TJP3_uc010xhs.2_Missense_Mutation_p.S515N|TJP3_uc010xht.2_Missense_Mutation_p.S479N|TJP3_uc010xhu.2_Missense_Mutation_p.S524N|TJP3_uc010xhw.2_Missense_Mutation_p.S534N	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	529	SH3.					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)		CCCGGGCAGAGCCACGCACGA	0.677000														40			23		0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124646631	124646631	+	Missense_Mutation	SNP	G	A	A	rs148320577		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:124646631G>A	uc003ehq.2	-	1	298	c.259C>T	c.(259-261)Ccc>Tcc	p.P87S		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	87	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CTAATTATGGGGGGAGCAGGT	0.438000														175			51		0	0	1	0	0
CCDC61	729440	broad.mit.edu	37	19	46498700	46498700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:46498700C>T	uc002pdw.3	+	1	98	c.98C>T	c.(97-99)tCc>tTc	p.S33F	CCDC61_uc021uwd.1_5'UTR	NM_001080402	NP_001073871			Homo sapiens coiled-coil domain containing 61 (CCDC61), mRNA.											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		AACGCCGGATCCTGGGGCGGG	0.622000														7			10		0	0	1	0	0
GOLGA8A	23015	broad.mit.edu	37	15	34673710	34673710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:34673710G>A	uc001zii.3	-	15	1823	c.1714C>T	c.(1714-1716)Ctt>Ttt	p.L572F	GOLGA8A_uc001zih.3_Missense_Mutation_p.L428F|DQ593032_uc001zil.3_5'Flank	NM_181077	NP_851422	A7E2F4	GOG8A_HUMAN	Homo sapiens golgin A8 family, member A (GOLGA8A), transcript variant 1, mRNA.	600	Golgi-targeting domain (By similarity).					Golgi cisterna membrane							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		ATCTCACCAAGGAGCTGCACG	0.592000														53			19		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191536	66191536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:66191536G>A	uc001ohx.1	+	6	1351	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q	NPAS4_uc010rpc.1_Missense_Mutation_p.R182Q	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	392					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GAGCTTCCCCGACCCTCCAAA	0.547000														94			79		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207796354	207796354	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:207796354G>A	uc001hfy.3	+	36	6083	c.5943G>A	c.(5941-5943)acG>acA	p.T1981T	CR1_uc001hfx.3_Silent_p.T2431T|CR1_uc021pij.1_Silent_p.T1981T	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1981					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TATCTGGTACGATCTTCTTTA	0.328000														5			8		0	0	1	0	0
OXSR1	9943	broad.mit.edu	37	3	38266089	38266089	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:38266089C>T	uc003chy.3	+	7	1072	c.730C>T	c.(730-732)Cct>Tct	p.P244S	OXSR1_uc010hhb.3_Missense_Mutation_p.P178S|OXSR1_uc010hha.1_Missense_Mutation_p.P176S	NM_005109	NP_005100	O95747	OXSR1_HUMAN	Homo sapiens oxidative-stress responsive 1 (OXSR1), mRNA.	244	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCAGAACGATCCTCCTTCTTT	0.318000														12			24		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42414941	42414941	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:42414941C>T	uc003gwr.2	-	36	3719	c.3487G>A	c.(3487-3489)Gaa>Aaa	p.E1163K	ATP8A1_uc003gwq.2_Missense_Mutation_p.E389K|ATP8A1_uc003gws.2_Missense_Mutation_p.E1148K|ATP8A1_uc021xnv.1_5'Flank	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	1163					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CATCACCATTCGTCGGGCCTC	0.483000														5			5		0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155015275	155015275	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155015275C>T	uc001fgn.2	+	8	1071	c.957C>T	c.(955-957)tcC>tcT	p.S319S	DCST1_uc010per.2_Silent_p.S344S|DCST1_uc010pes.2_Silent_p.S294S	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	Homo sapiens DC-STAMP domain containing 1 (DCST1), transcript variant 1, mRNA.	319						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCTACGACTCCCTCAACCAGT	0.572000														82			39		0	0	1	0	0
PCGF5	84333	broad.mit.edu	37	10	92982654	92982654	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:92982654T>G	uc001khi.3	+	1	434	c.26T>G	c.(25-27)gTg>gGg	p.V9G	PCGF5_uc001khg.3_Non-coding_Transcript|PCGF5_uc001khh.3_Missense_Mutation_p.V9G|PCGF5_uc010qnk.2_Missense_Mutation_p.V9G	NM_032373	NP_115749	Q86SE9	PCGF5_HUMAN	Homo sapiens polycomb group ring finger 5 (PCGF5), mRNA.	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex|centrosome	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						AAACACTTGGTGAAAGATTTT	0.423000														12			16		0	0	1	0	0
HIST1H2AB	8335	broad.mit.edu	37	6	26033692	26033692	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:26033692G>A	uc003nft.1	-	0	105	c.105C>T	c.(103-105)ctC>ctT	p.L35L	HIST1H3B_uc003nfs.1_5'Flank	NM_003513	NP_066390	P04908	H2A1B_HUMAN	Homo sapiens histone cluster 1, H2ab (HIST1H2AB), mRNA.	35					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGCCTTTGCGGAGCAGGCGGT	0.652000														64			18		0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851621	14851621	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:14851621G>A	uc010dlo.2	+	35	3501	c.3321G>A	c.(3319-3321)gtG>gtA	p.V1107V	ANKRD30B_uc021uhy.1_Silent_p.V1107V|ANKRD30B_uc010xal.1_Silent_p.V249V	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	1192										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AACACCAGGTGAAGGAAAATA	0.333000														22			10		0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57005247	57005247	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:57005247C>T	uc002eki.2	+	6	669	c.612C>T	c.(610-612)atC>atT	p.I204I	CETP_uc002ekj.2_Silent_p.I204I	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	204					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						GCAAAGAGATCAACGTCATCT	0.562000														13			115		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50912423	50912423	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:50912423C>T	uc002lfe.2	+	15	2986	c.2370C>T	c.(2368-2370)tcC>tcT	p.S790S	DCC_uc010xdr.1_Silent_p.S638S|DCC_uc010dpf.2_Silent_p.S445S	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	790	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGTCAAGTTCCCATTATGTAA	0.348000														14			11		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72299516	72299516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:72299516G>A	uc001jrd.4	+	14	2187	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	KIAA1274_uc001jre.4_5'UTR	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	636										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						CCCCCGAGAGGAGGTGAGGGT	0.657000														15			21		0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40853364	40853364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:40853364G>A	uc003jmg.3	+	2	2005	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	644					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGTGTCTGTGGAGGATATGGC	0.522000														223			56		0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20081556	20081557	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:20081556_20081557CC>TT	uc010nfo.2	-	2	464_465	c.347_348GG>AA	c.(346-348)agg>aAA	p.R116K	MAP7D2_uc011mji.2_Missense_Mutation_p.R72K|MAP7D2_uc004czr.2_Missense_Mutation_p.R116K|MAP7D2_uc011mjj.2_Missense_Mutation_p.R116K|MAP7D2_uc004czs.1_Missense_Mutation_p.R72K	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	116										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GCTTCTGTTTCCTTTTCTCTTC	0.609000														18			6		0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49736478	49736478	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:49736478C>T	uc003cxh.3	+	9	790	c.704C>T	c.(703-705)cCa>cTa	p.P235L	RNF123_uc010hky.1_5'Flank|RNF123_uc003cxi.3_5'Flank	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	235	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCCTACTTCCCAGCCATCAGC	0.562000														64			36		0	0	1	0	0
MAP4K1	11184	broad.mit.edu	37	19	39096236	39096236	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:39096236G>A	uc002oix.1	-	17	1443	c.1335C>T	c.(1333-1335)acC>acT	p.T445T	MAP4K1_uc002oiy.1_Silent_p.T445T|MAP4K1_uc010xug.2_Silent_p.T107T	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	445					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGGGGCTGCTGGTGGATGGGG	0.677000														3			3		0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65181846	65181846	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:65181846G>A	uc002lke.1	-	1	1254	c.30C>T	c.(28-30)atC>atT	p.I10I	LOC643542_uc021ulh.1_5'Flank|DSEL_uc021ulg.1_Silent_p.I10I	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	0						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTAACGCCATGATCCATGGGG	0.393000														20			10		0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100187894	100187894	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:100187894G>A	uc011kjz.1	+	2	418	c.350G>A	c.(349-351)tGg>tAg	p.W117*	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Nonsense_Mutation_p.W79*|FBXO24_uc003uvm.1_Nonsense_Mutation_p.W79*|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Nonsense_Mutation_p.W67*	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	79						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GAAGGCGTGTGGAGACGCATC	0.587000														49			9		0	0	1	0	0
FAM35B2	439965	broad.mit.edu	37	10	47409895	47409895	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:47409895C>T	uc010qga.2	+	3	466	c.137C>T	c.(136-138)cCt>cTt	p.P46L	FAM35B2_uc010qfz.2_Non-coding_Transcript					Homo sapiens family with sequence similarity 35, member B2 (pseudogene) (FAM35B2), non-coding RNA.																		CTGGCATTTCCTCTTACAGCA	0.343000														12			4		0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891737	6891737	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:6891737C>T	uc001meu.1	+	0	752	c.752C>T	c.(751-753)tCa>tTa	p.S251L		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K250E(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CGGCCTAAATCAAATAATTCA	0.418000														68			59		0	0	1	0	0
LCN8	138307	broad.mit.edu	37	9	139651584	139651584	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:139651584C>T	uc004cjb.1	-	1	410	c.61G>A	c.(61-63)Gat>Aat	p.D21N	LCN8_uc004cja.3_5'Flank|LCN8_uc004cjc.1_Missense_Mutation_p.D21N	NM_178469	NP_848564	Q6JVE9	LCN8_HUMAN	Homo sapiens lipocalin 8 (LCN8), mRNA.	44					transport	extracellular region	binding			endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		AGGCTTTGATCGGAGGCCACA	0.582000														10			4		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582416	55582416	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:55582416G>A	uc010qhy.1	-	34	5486	c.5091C>T	c.(5089-5091)atC>atT	p.I1697I	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.I1692I|PCDH15_uc021pqz.1_Silent_p.I1667I|PCDH15_uc010qhv.1_Silent_p.I1687I|PCDH15_uc010qhw.1_Silent_p.I1650I|PCDH15_uc010qhx.1_Silent_p.I1621I|PCDH15_uc010qhz.1_Silent_p.I1692I|PCDH15_uc010qia.1_Silent_p.I1670I|PCDH15_uc001jju.1_Silent_p.I1690I|PCDH15_uc010qib.1_Silent_p.I1667I	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1690					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)				CAGGAGAACTGATGACATTAG	0.423000										HNSCC(58;0.16)				23			7		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77442756	77442756	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:77442756C>T	uc004ajl.1	-	6	1017	c.779G>A	c.(778-780)gGa>gAa	p.G260E	TRPM6_uc004ajk.1_Missense_Mutation_p.G255E|TRPM6_uc022bib.1_Missense_Mutation_p.G255E|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.G260E|TRPM6_uc010mpd.1_Missense_Mutation_p.G260E|TRPM6_uc010mpe.1_Missense_Mutation_p.G260E|TRPM6_uc004ajn.1_Missense_Mutation_p.G260E	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	260					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CATTTCATTTCCATACTTGCC	0.512000														26			19		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140220978	140220978	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140220978G>A	uc003lhs.2	+	0	72	c.72G>A	c.(70-72)tgG>tgA	p.W24*	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Nonsense_Mutation_p.W24*	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	37					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCAGCCTGGAAGGTGGGGA	0.597000														65			13		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231812	21231812	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:21231812G>A	uc002red.3	-	25	8056	c.7928C>T	c.(7927-7929)tCc>tTc	p.S2643F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2643					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGAAAACCTGGATGGGATTTT	0.358000														589			124		0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28608113	28608113	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:28608113G>A	uc001urw.3	-	14	1935	c.1853C>T	c.(1852-1854)tCa>tTa	p.S618L	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.S618L	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	618	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.G617_S618ins21(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AAAAGCACCTGATCCTAGTAC	0.403000			"""Mis, O"""		"""AML, ALL"""									50			47		0	0	1	0	0
OR2AE1	81392	broad.mit.edu	37	7	99473783	99473784	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:99473783_99473784GG>AA	uc003usc.1	-	0	873_874	c.873_874CC>TT	c.(871-876)ctccgg>ctTTgg	p.R292W		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AE, member 1 (OR2AE1), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCTTTATTCCGGAGAGTATAAA	0.460000														52			60		0	0	1	0	0
APOC4	346	broad.mit.edu	37	19	45445539	45445539	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45445539C>T	uc002pah.3	+	0		c.45C>T				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)		CCAGAAATGTCCCTCCTCAGA	0.677000														87			72		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958354	121958354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:121958354G>A	uc003idq.1	-	3	1299	c.772C>T	c.(772-774)Cct>Tct	p.P258S		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	258										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TTATCAGAAGGAAATCCAAAG	0.468000														41			27		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784273	82784273	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:82784273C>T	uc003uhx.2	-	1	1973	c.1684G>A	c.(1684-1686)Gga>Aga	p.G562R	PCLO_uc003uhv.2_Missense_Mutation_p.G562R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	508	Pro-rich.				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						TTTCCAGATCCTGTTTGGCTT	0.522000														224			252		0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31964213	31964213	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:31964213C>T	uc011doy.2	+	27	3563	c.3512C>T	c.(3511-3513)tCc>tTc	p.S1171F	C4B_uc011doz.2_Missense_Mutation_p.S1171F	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1171					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										CAGGAAGCCTCCATCTCAAAG	0.597000														153			25		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193158366	193158366	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:193158366C>T	uc003ftd.3	-	20	2608	c.2500G>A	c.(2500-2502)Gaa>Aaa	p.E834K	ATP13A4_uc003fte.1_Missense_Mutation_p.E834K|ATP13A4_uc011bsr.1_Missense_Mutation_p.E305K|ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	834					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)		TGAAATTCTTCCACCAGACTG	0.458000														49			28		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35544123	35544123	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:35544123T>G	uc003xjr.2	+	6	1308	c.980T>G	c.(979-981)tTg>tGg	p.L327W	UNC5D_uc003xjs.2_Missense_Mutation_p.L322W|UNC5D_uc003xjt.1_Missense_Mutation_p.L96W	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	327	TSP type-1 2.				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)		TGTGAACATTTGCGGATCCGG	0.498000														34			27		0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62293945	62293946	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:62293945_62293946CC>TT	uc021wge.1	+	3	612_613	c.442_443CC>TT	c.(442-444)cct>TTt	p.P148F	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.P148F|RTEL1_uc011abd.2_Missense_Mutation_p.P172F|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc002yfv.2_Missense_Mutation_p.P198F|RTEL1_uc011abe.1_5'UTR	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	148	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GTGCATCCATCCTGAGGTGAAG	0.624000														39			51		0	0	1	0	0
ASCC1	51008	broad.mit.edu	37	10	73892920	73892920	+	Nonsense_Mutation	SNP	G	A	A	rs141611243		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:73892920G>A	uc001jst.2	-	8	1118	c.850C>T	c.(850-852)Cga>Tga	p.R284*	ANAPC16_uc021psn.1_Intron|ASCC1_uc001jsr.2_Nonsense_Mutation_p.R171*|ASCC1_uc001jss.2_Nonsense_Mutation_p.R256*|ASCC1_uc021pso.1_Nonsense_Mutation_p.R256*|ASCC1_uc001jsu.2_Nonsense_Mutation_p.R256*|ASCC1_uc010qju.2_Nonsense_Mutation_p.R277*	NM_001198799	NP_001185728	Q8N9N2	ASCC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 1 (ASCC1), transcript variant 1, mRNA.	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						TCCAGCACTCGATCAACTAAT	0.378000														30			9		0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138447681	138447681	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:138447681C>T	uc003vuf.3	-	4	619	c.381G>A	c.(379-381)ctG>ctA	p.L127L	ATP6V0A4_uc003vug.3_Silent_p.L127L|ATP6V0A4_uc003vuh.3_Silent_p.L127L	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	127					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGAGGTATTTCAGTTCTGTCA	0.453000														92			26		0	0	1	0	0
C14orf133	63894	broad.mit.edu	37	14	77896033	77896033	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:77896033G>A	uc001xtt.2	-	17	1674	c.1257C>T	c.(1255-1257)gcC>gcT	p.A419A	C14orf133_uc001xtu.2_Silent_p.A419A|C14orf133_uc001xtv.2_Silent_p.A419A|C14orf133_uc021rwu.1_Silent_p.A419A|C14orf133_uc010tvj.2_Silent_p.A370A	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	Homo sapiens chromosome 14 open reading frame 133 (C14orf133), transcript variant 2, mRNA.	419					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding							Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CCTGCACAGGGGCATTGTTCT	0.498000														220			75		0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70152500	70152500	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:70152500G>A	uc003hej.3	+	2	903	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	UGT2B28_uc010ihr.3_Missense_Mutation_p.E301K	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	301					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GAGCTCTGGTGAAAATGGTGT	0.413000														39			31		0	0	1	0	0
SULT2B1	6820	broad.mit.edu	37	19	49055573	49055573	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:49055573G>A	uc002pjl.3	+	0	145	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_177973	NP_814444	O00204	ST2B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA.	22					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		TGACATCTCGGAAATCAGGTG	0.672000														23			4		0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32101679	32101679	+	Missense_Mutation	SNP	C	T	T	rs146011999	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:32101679C>T	uc001ivz.1	-	14	2177	c.1907G>A	c.(1906-1908)cGa>cAa	p.R636Q	ARHGAP12_uc001ivy.1_Missense_Mutation_p.R582Q|ARHGAP12_uc009xls.2_Missense_Mutation_p.R587Q|ARHGAP12_uc001iwb.1_Missense_Mutation_p.R629Q|ARHGAP12_uc001iwc.1_Missense_Mutation_p.R604Q|ARHGAP12_uc009xlq.1_Missense_Mutation_p.R557Q	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Homo sapiens Rho GTPase activating protein 12 (ARHGAP12), mRNA.	636					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R636L(2)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				AGTGGGGCGTCGTGTAAGAAA	0.338000														63			14		0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718346	142718346	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:142718346G>A	uc022cfm.1	-	0	579	c.579C>T	c.(577-579)ctC>ctT	p.L193L	SLITRK4_uc022cfl.1_Silent_p.L193L|SLITRK4_uc004fbx.3_Silent_p.L193L|SLITRK4_uc004fby.3_Silent_p.L193L	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	193						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CGATATAAGGGAGCTTCTGGA	0.413000														32			17		0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43864744	43864744	+	Silent	SNP	C	T	T	rs61735848		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:43864744C>T	uc002zbe.3	+	13	1923	c.1839C>T	c.(1837-1839)ctC>ctT	p.L613L	UBASH3A_uc002zbf.3_Silent_p.L575L|UBASH3A_uc010gpe.3_Intron|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.	613	Phosphatase-like.					cytosol|nucleus		p.L613L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TTGCCCAACTCGTGAGAAAGG	0.557000														64			70		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159677661	159677661	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:159677661G>A	uc010kjv.3	+	17	5372	c.5172G>A	c.(5170-5172)acG>acA	p.T1724T		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1724	Fibronectin type-III 5.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGCCCAACACGAGGTACGATG	0.423000														31			24		0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132171144	132171144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:132171144G>A	uc011ecf.2	+	2	348	c.328G>A	c.(328-330)Ggt>Agt	p.G110S		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	110	SMB 1.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AAGTTGCAAAGGTCGCTGTTT	0.378000														18			20		0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128775341	128775341	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:128775341G>A	uc010fmd.2	-	2	471	c.339C>T	c.(337-339)gtC>gtT	p.V113V	SAP130_uc002tpp.2_Silent_p.V113V|SAP130_uc002tpq.1_Silent_p.V87V	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	113					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGGCTGATGCGACAGCATGGT	0.572000														57			30		0	0	1	0	0
SLC47A1	55244	broad.mit.edu	37	17	19459315	19459315	+	Silent	SNP	C	T	T	rs138282585	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:19459315C>T	uc002gvx.3	+	9	947	c.861C>T	c.(859-861)ctC>ctT	p.L287L	SLC47A1_uc010vyy.1_Non-coding_Transcript|SLC47A1_uc002gvy.1_Silent_p.L287L|SLC47A1_uc010vyz.1_Silent_p.L264L|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Silent_p.L92L|SLC47A1_uc010vza.1_5'UTR|SLC47A1_uc010vzb.1_Silent_p.L21L|SLC47A1_uc010vzc.1_5'UTR|SNORA59B_uc002gvz.1_5'Flank	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.	287						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					CAGGCATCCTCGGCATGGTGG	0.592000														30			9		0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248570147	248570147	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248570147G>A	uc010pzm.2	+	0	852	c.852G>A	c.(850-852)agG>agA	p.R284R		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G283G(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGAGGGCAGGAAGAAGGCAT	0.507000														88			10		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942577	144942577	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:144942577G>A	uc003zaa.1	-	0	4858	c.4845C>T	c.(4843-4845)atC>atT	p.I1615I		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1615						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)			CCACGGGGTCGATGATGAAGC	0.632000														12			28		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179561850	179561850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:179561850G>A	uc010pnp.2	+	1	618	c.100G>A	c.(100-102)Gag>Aag	p.E34K	TDRD5_uc021pfm.1_Missense_Mutation_p.E34K|TDRD5_uc001gnf.2_Missense_Mutation_p.E34K|TDRD5_uc021pfn.1_Missense_Mutation_p.E34K|DQ578586_uc010pno.2_5'Flank	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	34	Lotus/OST-HTH 1.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GTTGGAGAAGGAGTACCTTTT	0.473000														91			112		0	0	1	0	0
DEDD2	162989	broad.mit.edu	37	19	42713875	42713875	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:42713875G>A	uc002osu.1	-	3	634	c.566C>T	c.(565-567)tCc>tTc	p.S189F	DEDD2_uc002osv.1_Non-coding_Transcript|DEDD2_uc002osw.1_Missense_Mutation_p.S184F|DEDD2_uc010eid.3_Non-coding_Transcript	NM_133328	NP_579874	Q8WXF8	DEDD2_HUMAN	Homo sapiens death effector domain containing 2 (DEDD2), mRNA.	189					RNA processing|activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				GCCTTCAGAGGAAGGTCTGGC	0.647000														61			31		0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57756644	57756644	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:57756644G>A	uc002emi.3	+	9	1388	c.1299G>A	c.(1297-1299)ccG>ccA	p.P433P	CCDC135_uc002emj.3_Silent_p.P433P|CCDC135_uc002emk.3_Silent_p.P368P	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	433			P -> L (in dbSNP:rs3809611).			cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CCCGCTGCCCGAACGGGAAGA	0.582000														21			14		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24487846	24487846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:24487846G>A	uc003jgr.2	-	11	2799	c.2293C>T	c.(2293-2295)Ctc>Ttc	p.L765F	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	765					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L765L(1)|p.Y764*(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CATTCTCGGAGGTAATCGTAG	0.418000										HNSCC(23;0.051)				109			32		0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	52993551	52993551	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:52993551G>A	uc003pbp.3	-	5	973	c.764C>T	c.(763-765)tCc>tTc	p.S255F		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	255						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GTCCACAGTGGAAGTCTGGTC	0.473000														66			9		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171108	207171108	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:207171108C>T	uc002vbp.2	+	4	2106	c.1856C>T	c.(1855-1857)cCc>cTc	p.P619L		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	619							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAGCGTAAACCCAGTAGTGCT	0.423000														41			21		0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24523000	24523000	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:24523000C>T	uc002rfe.2	-	11	1380	c.1122G>A	c.(1120-1122)ggG>ggA	p.G374G	ITSN2_uc002rff.2_Silent_p.G374G|ITSN2_uc002rfg.3_Silent_p.G374G|ITSN2_uc010eyd.2_Silent_p.G399G	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	374					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)					GCTCCATGTTCCCTCGCTCAT	0.473000														151			91		0	0	1	0	0
FAM27L	284123	broad.mit.edu	37	17	21826114	21826114	+	RNA	SNP	C	T	T	rs144380293	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:21826114C>T	uc002gyz.3	+	1		c.224C>T								Homo sapiens family with sequence similarity 27-like (FAM27L), non-coding RNA.											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		TGACCACACTCCAGCCAAGGA	0.532000														63			26		0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74326142	74326142	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:74326142G>A	uc010wtb.1	-	5	529	c.308C>T	c.(307-309)tCt>tTt	p.S103F	PRPSAP1_uc010wta.1_Missense_Mutation_p.S206F	NM_002766	NP_002757	Q14558	KPRA_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.	177					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						AGCATCAGGAGACTTAGCTAC	0.423000														91			46		0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117035835	117035835	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:117035835G>A	uc011mtp.2	-	6	1583	c.1450C>T	c.(1450-1452)Cat>Tat	p.H484Y	KLHL13_uc004eqk.3_Missense_Mutation_p.H430Y|KLHL13_uc004eql.3_Missense_Mutation_p.H481Y|KLHL13_uc011mtn.2_Missense_Mutation_p.H321Y|KLHL13_uc011mto.2_Missense_Mutation_p.H475Y|KLHL13_uc011mtq.2_Missense_Mutation_p.H465Y|KLHL13_uc004eqm.3_Missense_Mutation_p.H439Y|KLHL13_uc022cde.1_Missense_Mutation_p.H465Y	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	481					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GTTCCAGCATGGCCATAGTGG	0.333000														22			19		0	0	1	0	0
TIMMDC1	51300	broad.mit.edu	37	3	119236139	119236139	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:119236139C>T	uc003ecn.3	+	5	897	c.684C>T	c.(682-684)ctC>ctT	p.L228L	TIMMDC1_uc003eco.3_Non-coding_Transcript|TIMMDC1_uc003ecp.3_Non-coding_Transcript	NM_016589	NP_057673	Q9NPL8	TIDC1_HUMAN	Homo sapiens translocase of inner mitochondrial membrane domain containing 1 (TIMMDC1), nuclear gene encoding mitochondrial protein, mRNA.	228						integral to membrane|mitochondrial inner membrane	protein transporter activity			autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						GAAAGGCACTCCATGAGCTAA	0.468000														64			27		0	0	1	0	0
MIDN	90007	broad.mit.edu	37	19	1251902	1251902	+	Splice_Site	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:1251902T>C	uc002lrp.3	+	4	899	c.384_splice	c.e4+2	p.Q128_splice		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	Homo sapiens midnolin (MIDN), mRNA.	128						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		GAGACGCAGGTAAGACCTCGC	0.652000														6			11		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1216767	1216767	+	Missense_Mutation	SNP	C	T	T	rs142164435	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:1216767C>T	uc003jbw.4	+	6	1038	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	328					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CATTGGGTTCCGCGCCACACA	0.602000														45			11		0	0	1	0	0
INTS6	26512	broad.mit.edu	37	13	51943425	51943425	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:51943425G>A	uc001vfk.3	-	15	2740	c.2126C>T	c.(2125-2127)tCg>tTg	p.S709L	INTS6_uc001vfi.3_Missense_Mutation_p.S393L|INTS6_uc001vfj.3_Missense_Mutation_p.S696L|INTS6_uc001vfl.3_Missense_Mutation_p.S531L	NM_012141	NP_001035026	Q9UL03	INT6_HUMAN	Homo sapiens integrator complex subunit 6 (INTS6), transcript variant 1, mRNA.	709					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		ATGTATTATCGAATCATTAGT	0.353000														34			11		0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55693471	55693471	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55693471G>A	uc002qjq.3	-	18	3184	c.3111C>T	c.(3109-3111)ctC>ctT	p.L1037L	PTPRH_uc010esv.3_Silent_p.L859L|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	1037	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GCAGCTGCCGGAGCAGGACGT	0.617000														76			36		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11713620	11713620	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:11713620C>T	uc002gne.3	+	44	8709	c.8641C>T	c.(8641-8643)Ctc>Ttc	p.L2881F	DNAH9_uc010coo.3_Missense_Mutation_p.L2175F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2881	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CACAGTGTTTCTCATGACTGA	0.453000														76			17		0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166891849	166891849	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:166891849G>A	uc001gdx.2	-	7	1248	c.1192C>T	c.(1192-1194)Cga>Tga	p.R398*		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	398						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AAGCTCTCTCGATCCTCTTTG	0.597000														285			84		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119726782	119726782	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:119726782G>A	uc002tln.1	+	1	276	c.144G>A	c.(142-144)gtG>gtA	p.V48V	MARCO_uc010yyf.1_5'UTR	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	48					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.V48M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CCCTAGCTGTGGTGGTCATCT	0.582000														43			13		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109631489	109631489	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:109631489C>T	uc001tob.3	+	15	2555	c.2436C>T	c.(2434-2436)ctC>ctT	p.L812L	ACACB_uc001toc.3_Silent_p.L812L	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	812					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TACTGAACCTCGTAGATGTGG	0.517000														49			11		0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32263882	32263882	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:32263882C>T	uc001bts.1	-	8	2129	c.2071G>A	c.(2071-2073)Gac>Aac	p.D691N	SPOCD1_uc001btu.3_Missense_Mutation_p.D691N|SPOCD1_uc001btv.3_Missense_Mutation_p.D184N|SPOCD1_uc021oks.1_5'UTR|SPOCD1_uc001btw.1_Missense_Mutation_p.D35N	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	691	TFIIS central.				transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CGCACCAGGTCGTAGGGGGTG	0.647000														3			49		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2806845	2806845	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:2806845C>T	uc022aqr.1	-	67	10768	c.10378G>A	c.(10378-10380)Gga>Aga	p.G3460R	CSMD1_uc011kwj.2_Missense_Mutation_p.G2775R|CSMD1_uc010lrg.3_Missense_Mutation_p.G1352R	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3461						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTAAATTTTCCAAAGTCTTTT	0.333000														38			6		0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118184905	118184905	+	Silent	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:118184905A>G	uc003yoh.3	+	7	1325	c.1095A>G	c.(1093-1095)gaA>gaG	p.E365E	SLC30A8_uc010mcz.3_Silent_p.E316E|SLC30A8_uc003yog.3_Silent_p.E316E|SLC30A8_uc011lia.2_Silent_p.E316E|SLC30A8_uc022bab.1_Silent_p.E316E	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	365					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	p.C364F(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TTTTCTGTGAAGACCCCTGTG	0.463000														209			58		0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83636148	83636148	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:83636148G>A	uc010vns.2	+	8	1455	c.1191G>A	c.(1189-1191)acG>acA	p.T397T	CDH13_uc002fgx.3_Silent_p.T350T|CDH13_uc010vnt.2_Silent_p.T96T|CDH13_uc010vnu.2_Silent_p.T311T	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	350	Cadherin 3.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCACAGCCACGATCATGATCG	0.463000														65			46		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062157	9062157	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9062157G>A	uc002mkp.3	-	2	25493	c.25289C>T	c.(25288-25290)gCc>gTc	p.A8430V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8432	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S8429*(1)		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						TCCCTCTGTGGCTGAGCTGAT	0.517000														39			30		0	0	1	0	0
GPR78	27201	broad.mit.edu	37	4	8583242	8583242	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:8583242C>T	uc003glk.3	+	0	1026	c.533C>T	c.(532-534)gCc>gTc	p.A178V	GPR78_uc021xlj.1_Intron|CPZ_uc003gll.3_Non-coding_Transcript	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	178					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						ACGCTCCATGCCGTGGGCTTC	0.697000														6			5		0	0	1	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400716	195400716	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:195400716C>T	uc003fuw.3	+	8	1206	c.12C>T	c.(10-12)atC>atT	p.I4I	SDHAP2_uc011btb.1_Nonsense_Mutation_p.Q152*|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		TGGCCAGGATCAGATTGTGCC	0.587000														2			21		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283846	152283847	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152283846_152283847CC>TT	uc001ezu.1	-	2	3551_3552	c.3515_3516GG>AA	c.(3514-3516)agg>aAA	p.R1172K	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1172	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCCTCTCCTTGACCCCGG	0.594000									Ichthyosis					548			126		0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53418923	53418923	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:53418923C>T	uc001vhi.3	-	2	3189	c.2985G>A	c.(2983-2985)cgG>cgA	p.R995R	PCDH8_uc001vhj.3_Silent_p.R898R	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	995					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	p.R995L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCAGAGGATCCCGAGGCAGTG	0.592000														45			14		0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21934823	21934823	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:21934823G>A	uc001bev.3	-	13	1197	c.1179C>T	c.(1177-1179)ctC>ctT	p.L393L	RAP1GAP_uc001bew.3_Silent_p.L457L|RAP1GAP_uc001bey.3_Silent_p.L393L|RAP1GAP_uc001bex.3_Silent_p.L393L	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	393	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GCGTCTCCAGGAGGGCGGCCC	0.657000														36			15		0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180576	124180576	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:124180576G>A	uc010sag.2	-	0	87	c.87C>T	c.(85-87)ctC>ctT	p.L29L		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CCAGGAACAGGAGGAAGAGGG	0.478000														12			33		0	0	1	0	0
ATG4D	84971	broad.mit.edu	37	19	10663560	10663560	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:10663560G>A	uc002mov.3	+	10	1363	c.1243_splice	c.e10-1	p.V415_splice	ATG4D_uc010xlh.2_Splice_Site_p.V352_splice|ATG4D_uc010dxh.3_Splice_Site|ATG4D_uc010dxi.3_Splice_Site|ATG4D_uc010dxj.3_Splice_Site_p.V82_splice	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA.	415					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CTTCCCGCCAGGTCCTCAGCT	0.602000														40			29		0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121758211	121758211	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:121758211G>A	uc001uag.3	-	11	1614	c.1492C>T	c.(1492-1494)Ccg>Tcg	p.P498S	ANAPC5_uc010szu.2_Missense_Mutation_p.P164S|ANAPC5_uc001uae.3_Missense_Mutation_p.P62S|ANAPC5_uc010szv.2_Missense_Mutation_p.P100S|ANAPC5_uc001uaf.3_Non-coding_Transcript|ANAPC5_uc001uah.3_Missense_Mutation_p.P386S	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	498					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|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	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTATTAGGCGGAAATCGTTCC	0.373000														226			57		0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114793460	114793460	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:114793460G>A	uc001tvo.3	-	8	1929	c.1434C>T	c.(1432-1434)tcC>tcT	p.S478S	TBX5_uc001tvp.3_Silent_p.S478S|TBX5_uc001tvq.3_Silent_p.S428S	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	478					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGGTGCCAGGGGACTGCAGGC	0.622000														45			11		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184103932	184103932	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:184103932G>A	uc003fov.3	+	14	2163	c.1917G>A	c.(1915-1917)ggG>ggA	p.G639G	CHRD_uc003fow.3_Silent_p.G269G|CHRD_uc003fox.3_Silent_p.G639G|CHRD_uc003foy.3_Silent_p.G269G|CHRD_uc010hyc.3_Silent_p.G229G|CHRD_uc011brr.2_Silent_p.G269G	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	639	CHRD 4.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCCAGAGGGGAGCTCCGAG	0.642000														41			16		0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204197961	204197961	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:204197961G>T	uc001hau.3	-	19	3097	c.2780C>A	c.(2779-2781)cCt>cAt	p.P927H		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	927										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GTACCGTTCAGGGATGAGGAC	0.562000														69			30		4.22769e-11	4.25712e-11	1	1	0
C4orf45	152940	broad.mit.edu	37	4	159836327	159836327	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:159836327C>T	uc003iqf.1	-	3	626	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	C4orf45_uc010iqt.1_Non-coding_Transcript	NM_152543	NP_689756	Q96LM5	CD045_HUMAN	Homo sapiens chromosome 4 open reading frame 45 (C4orf45), mRNA.	181										large_intestine(2)|lung(3)	5						CATACCTTTTCCTTTTTTGGT	0.373000														10			16		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104111584	104111584	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:104111584G>A	uc001tjw.3	+	43	4834	c.4648G>A	c.(4648-4650)Gga>Aga	p.G1550R	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1550	EGF-like 13.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.G1550E(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CACTGGAGATGGAAAGGTCTG	0.532000														10			100		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73065732	73065732	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:73065732G>A	uc004ebm.1	-	0		c.6857C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		AACAGGCCAAGAAAAGGGGCC	0.512000														32			28		0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612077	20612077	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20612077C>T	uc010tla.2	+	0	183	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CCCTCTATTTCTTTCTGGGCA	0.453000														193			57		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108382448	108382448	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:108382448T>A	uc001pkk.3	-	5	3897	c.3786A>T	c.(3784-3786)aaA>aaT	p.K1262N	EXPH5_uc010rvz.2_Missense_Mutation_p.K1106N|EXPH5_uc010rvy.2_Missense_Mutation_p.K1074N	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1262					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TACAGAATTTTTTGCTGGGTT	0.353000														7			27		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179647313	179647313	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179647313T>A	uc021vsy.1	-	18	3342	c.3117A>T	c.(3115-3117)gaA>gaT	p.E1039D	TTN_uc021vsz.1_Missense_Mutation_p.E993D|TTN_uc021vta.1_Missense_Mutation_p.E993D|TTN_uc021vtb.1_Missense_Mutation_p.E993D|TTN_uc002unb.2_Missense_Mutation_p.E1039D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1039							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)			TGGTTTCCTTTTCAAATTCTT	0.358000														14			7		0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17685796	17685796	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:17685796G>A	uc001baj.2	+	14	1679	c.1651G>A	c.(1651-1653)Gag>Aag	p.E551K		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	551					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CTGGAACCGCGAGCTGCTGAA	0.617000														37			21		0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58135834	58135834	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:58135834G>A	uc001spr.3	-	0	111	c.21C>T	c.(19-21)ttC>ttT	p.F7F	TSPAN31_uc001spt.3_5'Flank|TSPAN31_uc009zqb.3_5'Flank	NM_014770	NP_055585	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 2, mRNA.	0	Interaction with EPB41L1 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CAGCTACAACGAACTGCCTCT	0.597000														79			28		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110437383	110437383	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:110437383C>T	uc003yne.3	+	23	2871	c.2767C>T	c.(2767-2769)Cat>Tat	p.H923Y		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	923			H -> R (in dbSNP:rs4735133).		immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.K923I(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTCAAAAATTCATATTCAAAG	0.318000										HNSCC(38;0.096)				13			7		0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6731530	6731530	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:6731530G>A	uc003sqt.1	-	4	1597	c.1043C>T	c.(1042-1044)tCa>tTa	p.S348L	ZNF12_uc011jxa.1_Missense_Mutation_p.S186L|ZNF12_uc003sqs.1_Missense_Mutation_p.S310L	NM_016265	NP_057349	P17014	ZNF12_HUMAN	Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA.	348					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CTTCTCTCCTGAGTGAGTTCT	0.428000														100			10		0	0	1	0	0
ZNF841	284371	broad.mit.edu	37	19	52569978	52569978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52569978G>A	uc010ydh.1	-	6	1617	c.1157C>T	c.(1156-1158)tCc>tTc	p.S386F	ZNF841_uc002pyl.1_Missense_Mutation_p.S270F	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	Homo sapiens zinc finger protein 841 (ZNF841), mRNA.	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TGCAAGAGAGGAACTTTGACT	0.403000														7			6		0	0	1	0	0
GPR63	81491	broad.mit.edu	37	6	97247344	97247344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:97247344C>T	uc010kcl.3	-	2	742	c.264G>A	c.(262-264)atG>atA	p.M88I	GPR63_uc003pou.3_Missense_Mutation_p.M88I|GPR63_uc021zcy.1_Missense_Mutation_p.M88I	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA.	88						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GAATGAATATCATTATAGCAG	0.433000														20			11		0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64023201	64023201	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:64023201C>T	uc009ypi.3	+	7	733	c.606C>T	c.(604-606)tcC>tcT	p.S202S	PLCB3_uc009ypg.2_Silent_p.S202S|PLCB3_uc009yph.2_Silent_p.S135S	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	202					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGAGTGAGTCCATCCGGCCTG	0.617000														98			29		0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10876690	10876690	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:10876690C>T	uc003mzn.4	-	2	516	c.444G>A	c.(442-444)gcG>gcA	p.A148A	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	148					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GAAAAAAGATCGCGTTGCCAT	0.498000														71			9		0	0	1	0	0
YBX2	51087	broad.mit.edu	37	17	7193348	7193348	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:7193348C>T	uc002gfq.2	-	5	844	c.787G>A	c.(787-789)Ggg>Agg	p.G263R		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Homo sapiens Y box binding protein 2 (YBX2), mRNA.	263	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TGTTGGTGCCCCTCCAATGGG	0.637000														83			34		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1994041	1994041	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:1994041C>T	uc021qsx.1	-	10	1396	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.E308K	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	389	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGCTTGGCCTCTTGGAACTGT	0.612000														16			6		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103162527	103162527	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:103162527C>T	uc022ajr.1	-	47	7770	c.7610G>A	c.(7609-7611)gGg>gAg	p.G2537E	RELN_uc022ajq.1_Missense_Mutation_p.G2537E|RELN_uc010liz.3_Missense_Mutation_p.G2537E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2537					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	p.G2536G(1)		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)		ACTCAATTTCCCTCCGTTCAC	0.517000														38			48		0	0	1	0	0
NSUN4	387338	broad.mit.edu	37	1	46810768	46810768	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:46810768G>T	uc001cpr.1	+	1	498	c.389G>T	c.(388-390)cGa>cTa	p.R130L	NSUN4_uc010omc.1_Missense_Mutation_p.R81L|NSUN4_uc009vyf.1_Missense_Mutation_p.D31Y|NSUN4_uc009vyg.1_Missense_Mutation_p.R81L|NSUN4_uc001cpt.1_Non-coding_Transcript|NSUN4_uc001cps.1_Intron	NM_199044	NP_950245	Q96CB9	NSUN4_HUMAN	Homo sapiens NOP2/Sun domain family, member 4 (NSUN4), transcript variant 1, mRNA.	130							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					CCGAACCTTCGATGCTTCACT	0.567000														0			34		3.03874e-20	3.07261e-20	1	1	0
MUC16	94025	broad.mit.edu	37	19	9072286	9072286	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9072286G>A	uc002mkp.3	-	2	15364	c.15160C>T	c.(15160-15162)Ctg>Ttg	p.L5054L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5056	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGAAATCAGGGAAGGTGTG	0.473000														47			27		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212426674	212426674	+	Missense_Mutation	SNP	T	G	G	rs112196222		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:212426674T>G	uc002veg.1	-	19	2539	c.2441A>C	c.(2440-2442)aAc>aCc	p.N814T	ERBB4_uc002veh.1_Missense_Mutation_p.N814T|ERBB4_uc010zji.1_Missense_Mutation_p.N804T|ERBB4_uc010zjj.1_Missense_Mutation_p.N804T|ERBB4_uc010fut.1_Missense_Mutation_p.N814T	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	814	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGATCCAATGTTATCCTTGTG	0.453000										TSP Lung(8;0.080)				74			22		0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10105572	10105572	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:10105572G>A	uc003buw.3	+	20	2002	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	FANCD2_uc003bux.1_Missense_Mutation_p.E642K|FANCD2_uc003buy.1_Missense_Mutation_p.E642K|FANCD2_uc010hcw.1_Non-coding_Transcript	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	642					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GATCCAACATGAAAAGCTGGA	0.443000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					51			4		0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17847771	17847771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:17847771C>T	uc002rco.3	-	26	3373	c.3077G>A	c.(3076-3078)aGg>aAg	p.R1026K	SMC6_uc010exo.3_Missense_Mutation_p.R1026K|SMC6_uc002rcn.3_Missense_Mutation_p.R1026K	NM_001142286	NP_078900	Q96SB8	SMC6_HUMAN	Homo sapiens structural maintenance of chromosomes 6 (SMC6), transcript variant 1, mRNA.	1026					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGCAATTCTCCTATTAACCAT	0.388000														10			35		0	0	1	0	0
FBRS	64319	broad.mit.edu	37	16	30676392	30676392	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:30676392C>T	uc002dzd.4	+	2	303	c.40C>T	c.(40-42)Cga>Tga	p.R14*	FBRS_uc002dzc.4_Intron	NM_001105079	NP_001098549	Q9HAH7	FBRS_HUMAN	Homo sapiens fibrosin (FBRS), mRNA.	14										ovary(1)	1			Colorectal(24;0.103)			AGGCCTTTTCCGACATAAtgt	0.552000														12			3		0	0	1	0	0
RING1	6015	broad.mit.edu	37	6	33179271	33179271	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:33179271C>T	uc003odk.3	+	4	986	c.792C>T	c.(790-792)ctC>ctT	p.L264L	RING1_uc011dqx.1_Silent_p.L264L|RING1_uc003odl.3_Silent_p.L235L	NM_002931	NP_002922	Q06587	RING1_HUMAN	Homo sapiens ring finger protein 1 (RING1), mRNA.	264	Necessary for interaction with CBX2 (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex|cytoplasm|nuclear speck	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						AAATTGAGCTCGTGTTCCGGC	0.652000														15			4		0	0	1	0	0
RAB36	9609	broad.mit.edu	37	22	23498191	23498191	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:23498191C>T	uc002zwv.1	+	5	604	c.564C>T	c.(562-564)atC>atT	p.I188I	RAB36_uc010gtw.1_Silent_p.I166I	NM_004914	NP_004905	O95755	RAB36_HUMAN	Homo sapiens RAB36, member RAS oncogene family (RAB36), mRNA.	188					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TCAAGTGCATCGCATCTGCCT	0.592000														10			10		0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102049854	102049854	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:102049854C>T	uc001kqx.1	-	13	2551	c.2168G>A	c.(2167-2169)gGa>gAa	p.G723E	PKD2L1_uc009xwm.1_Missense_Mutation_p.G676E	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	723					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GGACACTACTCCTTCCAGGAC	0.562000														65			46		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1544401	1544401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:1544401C>T	uc002qwr.3	+	15	2740	c.2654C>T	c.(2653-2655)tCg>tTg	p.S885L	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.S885L|TPO_uc002qwx.3_Missense_Mutation_p.S828L|TPO_uc002qwu.3_Missense_Mutation_p.S828L|TPO_uc010yio.2_Missense_Mutation_p.S712L|TPO_uc010yip.2_Missense_Mutation_p.S841L|TPO_uc002qwy.1_Missense_Mutation_p.S181L|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	885					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTGCCCATCTCGGAGACAGGC	0.642000														74			54		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99551716	99551716	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:99551716G>A	uc010nmz.3	-	5	4682	c.3006C>T	c.(3004-3006)gtC>gtT	p.V1002V	PCDH19_uc004efw.4_Silent_p.V954V|PCDH19_uc004efx.4_Silent_p.V955V	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	1002					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CATAAGCCTCGACATCAGCAG	0.582000														15			17		0	0	1	0	0
STAT6	6778	broad.mit.edu	37	12	57500318	57500318	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:57500318G>A	uc009zpg.3	-	5	673	c.671C>T	c.(670-672)cCa>cTa	p.P224L	STAT6_uc009zpe.3_Missense_Mutation_p.P175L|STAT6_uc001sna.3_Missense_Mutation_p.P175L|STAT6_uc009zpf.3_Missense_Mutation_p.P175L|STAT6_uc010srb.2_Missense_Mutation_p.P65L|STAT6_uc010src.2_Missense_Mutation_p.P65L|STAT6_uc010srd.2_Missense_Mutation_p.P65L	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	175					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CACCTCACTTGGCCCAGTCCC	0.522000														51			13		0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72397811	72397811	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:72397811C>T	uc010iic.3	+	16	2316	c.2199C>T	c.(2197-2199)atC>atT	p.I733I	SLC4A4_uc003hfy.3_Silent_p.I733I|SLC4A4_uc010iib.3_Silent_p.I733I|SLC4A4_uc003hfz.3_Silent_p.I733I|SLC4A4_uc003hgc.4_Silent_p.I689I|SLC4A4_uc010iid.3_5'UTR	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	733						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)			TTGCCATTATCTTGTCCATTC	0.378000														22			18		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42328546	42328546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:42328546C>T	uc002igf.4	-	18	2785	c.2636G>A	c.(2635-2637)aGg>aAg	p.R879K	SLC4A1_uc021tyc.1_Missense_Mutation_p.R513K	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	879	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CTCCACGTTCCTGAAGATGAG	0.662000														19			4		0	0	1	0	0
LRRC25	126364	broad.mit.edu	37	19	18507256	18507256	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:18507256C>T	uc002niw.3	-	0	1160	c.518G>A	c.(517-519)gGg>gAg	p.G173E	LRRC25_uc002nix.3_Missense_Mutation_p.G173E	NM_145256	NP_660299	Q8N386	LRC25_HUMAN	Homo sapiens leucine rich repeat containing 25 (LRRC25), mRNA.	173						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						AAGCAGGCACCCGCTGACCAC	0.647000														23			16		0	0	1	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773576	35773576	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:35773576C>T	uc003olg.1	+	0	506	c.129C>T	c.(127-129)ctC>ctT	p.L43L		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 5 (LHFPL5), mRNA.	43						integral to membrane		p.L43L(2)		endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TCATGGCCCTCTTCATCCAGC	0.592000														138			41		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50954001	50954001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:50954001C>T	uc009xog.3	-	9	1434	c.1400G>A	c.(1399-1401)cGa>cAa	p.R467Q	OGDHL_uc001jie.3_Missense_Mutation_p.R440Q|OGDHL_uc010qgt.2_Missense_Mutation_p.R383Q|OGDHL_uc010qgu.2_Missense_Mutation_p.R231Q|OGDHL_uc009xoh.2_Missense_Mutation_p.R231Q	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	440					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						GCGGGCCATTCGGGGGTCTGT	0.557000														42			17		0	0	1	0	0
TAP2	6891	broad.mit.edu	37	6	32782883	32782883	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:32782883G>A	uc011dqf.1	-	12	2242	c.2120C>T	c.(2119-2121)gCc>gTc	p.A707V	TAP2_uc003oca.3_Missense_Mutation_p.A100V|TAP2_uc011dqg.1_Missense_Mutation_p.A100V	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										CCCATCCACGGCCTGTCTGCT	0.592000														39			40		0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79685898	79685898	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:79685898C>T	uc001sys.3	+	6	1133	c.462C>T	c.(460-462)ttC>ttT	p.F154F	SYT1_uc001syt.3_Silent_p.F154F|SYT1_uc001syu.3_Silent_p.F151F|SYT1_uc001syv.3_Silent_p.F154F	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	154	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ATTATGATTTCCAAAATAACC	0.343000														23			22		0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	79002193	79002193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:79002193C>T	uc001din.3	+	2	1167	c.901C>T	c.(901-903)Cct>Tct	p.P301S	PTGFR_uc001dim.3_3'UTR	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	301					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AATCTTAGATCCTTGGGTATA	0.393000														3			31		0	0	1	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143649	61143649	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:61143649C>T	uc021wfy.1	-	0		c.234G>A			C20orf166-AS1_uc002ycy.3_Non-coding_Transcript|C20orf166-AS1_uc002ycz.2_Non-coding_Transcript					Homo sapiens chromosome 20 open reading frame 200, mRNA (cDNA clone MGC:120891 IMAGE:7939701), complete cds.																		GGCTGGAATCCAGAATCAGAT	0.667000														85			10		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55286802	55286802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55286802C>T	uc010erz.1	+	3	594	c.556C>T	c.(556-558)Cct>Tct	p.P186S	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Non-coding_Transcript|KIR2DL1_uc002qhb.1_Missense_Mutation_p.P186S	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	186	Ig-like C2-type 2.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GGCTGACTTTCCTCTGGGCCC	0.562000														62			44		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394513	86394513	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:86394513G>A	uc003uid.3	+	1	1151	c.52G>A	c.(52-54)Gga>Aga	p.G18R	GRM3_uc010lef.3_Missense_Mutation_p.G16R|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	18					synaptic transmission	integral to plasma membrane		p.K17N(1)|p.G18E(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GTTTTCAAAGGGATTTTTACT	0.398000														64			79		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155199680	155199680	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:155199680G>A	uc021xge.1	-	22	4436	c.4159C>T	c.(4159-4161)Cct>Tct	p.P1387S	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.P1349S	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1387					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGTTTTAAAGGAGAAGCAAGT	0.438000														42			18		0	0	1	0	0
SEMA4F	10505	broad.mit.edu	37	2	74884997	74884997	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:74884997T>C	uc002sna.1	+	3	486	c.375T>C	c.(373-375)ttT>ttC	p.F125F	SEMA4F_uc010ysb.1_Intron|SEMA4F_uc021vjn.1_Silent_p.F125F|SEMA4F_uc010ffq.1_Intron|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_Intron|SEMA4F_uc002snc.1_Intron	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	125	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GTCACAATTTTGTCCAGATTC	0.517000														35			100		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196661399	196661399	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:196661399C>T	uc002utj.4	-	55	10517	c.10416G>A	c.(10414-10416)atG>atA	p.M3472I	DNAH7_uc002uti.4_5'Flank	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3472	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A3471P(1)		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						CTAACATCTTCATAGCAATGG	0.428000														7			16		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84510303	84510303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:84510303C>T	uc004eeq.3	+	3	1004	c.118C>T	c.(118-120)Cat>Tat	p.H40Y	ZNF711_uc004eep.3_Missense_Mutation_p.H40Y|ZNF711_uc004eeo.3_Missense_Mutation_p.H40Y	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	40					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CGATGGAGACCATATTGTTGT	0.368000														19			17		0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20869190	20869190	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:20869190G>A	uc009yid.3	+	4	634	c.481G>A	c.(481-483)Ggg>Agg	p.G161R	NELL1_uc010rdp.2_Intron|NELL1_uc001mqe.3_Missense_Mutation_p.G133R|NELL1_uc001mqf.3_Missense_Mutation_p.G133R|NELL1_uc010rdo.2_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	133	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CATACACAATGGGAAGCCAAG	0.463000														26			5		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423531	26423531	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:26423531C>T	uc003abz.1	+	42	7841	c.7591C>T	c.(7591-7593)Cca>Tca	p.P2531S	MYO18B_uc003aca.1_Missense_Mutation_p.P2412S|MYO18B_uc010guy.1_Missense_Mutation_p.P2413S|MYO18B_uc010guz.1_Missense_Mutation_p.P2411S|MYO18B_uc011aka.1_Missense_Mutation_p.P1685S|MYO18B_uc011akb.1_Missense_Mutation_p.P2044S|MYO18B_uc010gva.1_Missense_Mutation_p.P514S|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2531						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACCAGGAATCCCACGACTTGC	0.582000														23			9		0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25799137	25799137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:25799137G>A	uc003nfh.4	-	11	1396	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Missense_Mutation_p.S427F|SLC17A1_uc010jqc.1_Missense_Mutation_p.S371F	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	427					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.E426K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AAACCAGGCGGATTCCGGATC	0.328000														45			5		0	0	1	0	0
UFL1	23376	broad.mit.edu	37	6	97000522	97000522	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:97000522A>T	uc003por.3	+	17	2198	c.2150A>T	c.(2149-2151)aAt>aTt	p.N717I	UFL1_uc010kck.3_Non-coding_Transcript	NM_015323	NP_056138	O94874	UFL1_HUMAN	Homo sapiens UFM1-specific ligase 1 (UFL1), mRNA.	717					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	UFM1 conjugating enzyme activity|protein binding										GCTTTTCTTAATAGTAAAATT	0.368000														8			3		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28447509	28447509	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:28447509A>T	uc001zbj.3	-	45	7570	c.7464T>A	c.(7462-7464)aaT>aaA	p.N2488K	HERC2_uc001zbk.1_Missense_Mutation_p.N23K	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2488					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGCTGGATGCATTCCCGGAAG	0.557000														26			29		0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58135802	58135802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:58135802C>T	uc001spr.3	-	0	143	c.53G>A	c.(52-54)cGa>cAa	p.R18Q	TSPAN31_uc001spt.3_5'Flank|TSPAN31_uc009zqb.3_5'Flank	NM_014770	NP_055585	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 2, mRNA.	0	Interaction with EPB41L1 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	p.R18P(2)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CACCTCATGTCGTCTGACTTC	0.592000														66			45		0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86905967	86905967	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:86905967C>T	uc001dlr.4	+	7	1502	c.1340C>T	c.(1339-1341)tCa>tTa	p.S447L		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	447	VWFA.				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GCCCTGGGTTCATCTGCAGCC	0.423000														29			19		0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7846844	7846844	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:7846844G>A	uc010rbg.2	-	0	676	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGCATCTTCAGGATGGTGATG	0.463000														56			18		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123989891	123989891	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:123989891G>A	uc001lfv.3	+	15	8423	c.8063G>A	c.(8062-8064)cGg>cAg	p.R2688Q	TACC2_uc001lfw.3_Missense_Mutation_p.R834Q|TACC2_uc009xzx.3_Intron|TACC2_uc010qtv.2_Intron|TACC2_uc001lfx.3_Intron|TACC2_uc001lfy.3_Intron|TACC2_uc001lfz.3_Missense_Mutation_p.R766Q|TACC2_uc001lga.3_Intron|TACC2_uc009xzy.3_Intron|TACC2_uc001lgb.3_Intron	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2688						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.R2688Q(2)		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)				GCCATCATGCGGATAGAAGCC	0.567000														100			22		0	0	1	0	0
NGDN	25983	broad.mit.edu	37	14	23944952	23944952	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:23944952C>T	uc001wjy.3	+	5	412	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	NGDN_uc001wjz.3_Missense_Mutation_p.R129C	NM_001042635	NP_001036100	Q8NEJ9	NGDN_HUMAN	Homo sapiens neuroguidin, EIF4E binding protein (NGDN), transcript variant 1, mRNA.	129	Necessary for interaction with EIF4E (By similarity).				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TGACCCACTTCGTTTTAAGCC	0.408000														82			28		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785666	111785666	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:111785666C>T	uc001tsa.2	+	21	4152	c.3998C>T	c.(3997-3999)cCc>cTc	p.P1333L		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1333	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAGGAGCATCCCGACCCTCCG	0.622000														76			43		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140784826	140784826	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140784826C>T	uc003lkh.2	+	0	2307	c.2307C>T	c.(2305-2307)atC>atT	p.I769I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Silent_p.I769I|PCDHGC5_uc003lki.1_5'Flank|PCDHGC5_uc003lkj.2_5'Flank	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	778					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCACCTGATCTTCCCCCAGC	0.502000														40			74		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45392024	45392024	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:45392024C>T	uc001zun.3	-	24	3454	c.3251G>A	c.(3250-3252)cGa>cAa	p.R1084Q	DUOX2_uc010bea.3_Missense_Mutation_p.R1084Q	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1084	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CGCCGTGCCTCGTGACAGGAT	0.567000														48			17		0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113445716	113445716	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:113445716G>A	uc001tuj.3	+	8	2003	c.1863G>A	c.(1861-1863)agG>agA	p.R621R	OAS2_uc001tui.1_Silent_p.R621R	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	621	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGACCGTGAGGAAGTTTCTAC	0.488000														140			42		0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17417987	17417987	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:17417987C>T	uc011kye.2	+	8	1617	c.1569C>T	c.(1567-1569)tcC>tcT	p.S523S	SLC7A2_uc011kyc.2_Silent_p.S483S|SLC7A2_uc011kyd.2_Silent_p.S522S	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	483					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TCTGCCCCTCCCTTCTGCCAA	0.537000														116			24		0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151152722	151152722	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:151152722G>A	uc011eem.1	+	14	2740	c.2652G>A	c.(2650-2652)aaG>aaA	p.K884K	PLEKHG1_uc011eel.1_Silent_p.K865K|PLEKHG1_uc003qny.1_Silent_p.K825K|PLEKHG1_uc003qnz.2_Silent_p.K825K	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	825					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TGCCTCATAAGCCTGTATCTG	0.458000														44			20		0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36269984	36269984	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:36269984C>T	uc010jwf.2	+	5	1122	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	PNPLA1_uc010jwe.1_Silent_p.F288F|PNPLA1_uc003olw.1_Silent_p.F279F	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	374	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CTGTATCATTCCCAGCTGTGC	0.572000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		139			26		0	0	1	0	0
BC043541	0	broad.mit.edu	37	1	43353119	43353119	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:43353119C>T	uc001cij.1	+	3		c.1021C>T								Homo sapiens cDNA clone IMAGE:5170739.																		GGATGAAGTTCCTGCAGATGG	0.682000														7			3		0	0	1	0	0
FAIM3	9214	broad.mit.edu	37	1	207087140	207087140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:207087140C>T	uc001hey.3	-	1	516	c.337G>A	c.(337-339)Gga>Aga	p.G113R	FAIM3_uc010prz.2_Intron|FAIM3_uc021pif.1_Missense_Mutation_p.G113R|FAIM3_uc010psa.2_Intron	NM_005449	NP_005440	O60667	FAIM3_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 3 (FAIM3), transcript variant 1, mRNA.	113					anti-apoptosis|cellular defense response	integral to membrane		p.R112R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					TGGGTCTTTCCCCGGTCTGTG	0.522000														89			18		0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47939241	47939241	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:47939241G>A	uc003gxu.3	-	9	1618	c.1477C>T	c.(1477-1479)Cga>Tga	p.R493*	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Nonsense_Mutation_p.R424*	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	424					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CTTACATTTCGAAAATGCATA	0.348000														71			35		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31383061	31383061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:31383061C>T	uc002ebt.3	+	16	2183	c.2116C>T	c.(2116-2118)Ctc>Ttc	p.L706F	ITGAX_uc002ebu.1_Missense_Mutation_p.L706F	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	706					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGTCCGAGTCCTCGGGCTGAA	0.647000														28			14		0	0	1	0	0
DPH2	1802	broad.mit.edu	37	1	44437138	44437138	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:44437138C>T	uc001ckz.3	+	3	759	c.564C>T	c.(562-564)tcC>tcT	p.S188S	DPH2_uc001cla.3_Intron|DPH2_uc010okk.2_Silent_p.S53S|DPH2_uc001clb.3_Silent_p.S112S	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	Homo sapiens DPH2 homolog (S. cerevisiae) (DPH2), transcript variant 1, mRNA.	188					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CAGTGGGTTCCCTGAGTCCAG	0.602000														24			14		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508136	37508136	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:37508136G>T	uc021ppc.1	+	33	3427	c.3328G>T	c.(3328-3330)Ggg>Tgg	p.G1110W	ANKRD30A_uc001iza.1_Missense_Mutation_p.G1110W	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1166						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.G1110G(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCAATATAGTGGGCAGCTTAA	0.348000														141			44		1.02687e-29	1.04087e-29	1	1	0
SORCS3	22986	broad.mit.edu	37	10	106960879	106960879	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:106960879G>A	uc001kyi.1	+	16	2355	c.2128_splice	c.e16-1	p.G710_splice	SORCS3_uc010qqz.1_Splice_Site	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	710						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTCTCTAAGGGAGAGCCTTGT	0.438000														22			13		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26432477	26432477	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:26432477C>T	uc001isn.2	+	20	2723	c.2363C>T	c.(2362-2364)tCc>tTc	p.S788F	MYO3A_uc009xko.1_Missense_Mutation_p.S788F|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	788	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	p.S788Y(2)		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						GGTTTACTTTCCCTACTTGAT	0.398000														46			13		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37490223	37490223	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:37490223G>A	uc021ppc.1	+	30	2770	c.2671G>A	c.(2671-2673)Gaa>Aaa	p.E891K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E891K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	947						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACATCAAAAAGAAATGGATAA	0.318000														68			16		0	0	1	0	0
EIF4A2	1974	broad.mit.edu	37	3	186501362	186501362	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:186501362C>T	uc003fqs.3	+	1	1	c.-38_splice	c.e1-1		EIF4A2_uc003fqu.3_Splice_Site|EIF4A2_uc003fqv.3_Splice_Site|EIF4A2_uc003fqw.3_Splice_Site|SNORD2_uc010hyu.1_5'Flank|EIF4A2_uc011bsb.2_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A2 (EIF4A2), mRNA.						interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TTGGGCGCCGCTGTCTTTTCA	0.547000			T	BCL6	NHL									50			22		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503187	140503187	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140503187G>T	uc003lip.1	+	0	1607	c.1607G>T	c.(1606-1608)gGt>gTt	p.G536V		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	536	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGACCGCGGTTCTCCGGCT	0.662000														84			21		3.62473e-10	3.6479e-10	1	1	0
APBB2	323	broad.mit.edu	37	4	40946957	40946957	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:40946957G>A	uc003gvn.3	-	6	1599	c.969C>T	c.(967-969)tcC>tcT	p.S323S	APBB2_uc010ifu.3_5'UTR|APBB2_uc003gvl.3_Silent_p.S322S|APBB2_uc003gvm.3_Silent_p.S322S|APBB2_uc011byt.1_Silent_p.S305S	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	322					cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CTGCTGGGATGGAGACGGGCC	0.527000														5			45		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3248157	3248157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:3248157C>T	uc004crg.4	-	3	768	c.611G>A	c.(610-612)cGg>cAg	p.R204Q		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	204						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGGCATGTTCCGAAGCATGCT	0.458000														6			7		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761627	92761627	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:92761627C>T	uc003umh.1	-	4	4874	c.3658G>A	c.(3658-3660)Gaa>Aaa	p.E1220K	SAMD9L_uc003umj.1_Missense_Mutation_p.E1220K|SAMD9L_uc003umi.1_Missense_Mutation_p.E1220K|SAMD9L_uc010lfb.1_Missense_Mutation_p.E1220K|SAMD9L_uc003umk.1_Missense_Mutation_p.E1220K|SAMD9L_uc010lfc.1_Missense_Mutation_p.E1220K|SAMD9L_uc010lfd.1_Missense_Mutation_p.E1220K|SAMD9L_uc022ahh.1_Missense_Mutation_p.E1220K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1220								p.E1220*(2)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AATTCATTTTCTTTGTGGAAA	0.368000														74			16		0	0	1	0	0
GOT1L1	137362	broad.mit.edu	37	8	37796275	37796275	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:37796275G>A	uc011lbj.1	-	1	340	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1-like 1 (GOT1L1), mRNA.	80					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			GAGAGGCCTGGATGAATGATT	0.527000														8			7		0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	107114863	107114863	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:107114863G>A	uc010ilv.2	-	21	2327	c.1962C>T	c.(1960-1962)ttC>ttT	p.F654F	TBCK_uc003hyb.2_Silent_p.F397F|TBCK_uc003hye.2_Silent_p.F615F|TBCK_uc003hyc.2_Silent_p.F591F|TBCK_uc003hyd.2_Silent_p.F482F|TBCK_uc003hyf.2_Silent_p.F654F	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	654						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TACAGAATGGGAAAGAGGAAT	0.378000														64			10		0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73021133	73021133	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:73021133G>A	uc001otu.3	+	0	1471	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	484					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AGACCTTTCAGAGCTGAGGGT	0.577000														30			24		0	0	1	0	0
FAM73B	84895	broad.mit.edu	37	9	131804710	131804710	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:131804710T>C	uc004bxa.3	+	2	410	c.224T>C	c.(223-225)gTt>gCt	p.V75A	FAM73B_uc004bwy.3_Non-coding_Transcript|FAM73B_uc004bwz.3_Non-coding_Transcript|FAM73B_uc011mbn.1_Missense_Mutation_p.V75A	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	Homo sapiens family with sequence similarity 73, member B (FAM73B), mRNA.	75						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						AAGAAGCAGGTTGGTCCCGAG	0.647000														10			4		0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45281486	45281486	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45281486C>T	uc002ozs.3	+	0	361	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S	CBLC_uc010ejt.3_Missense_Mutation_p.P100S	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	100	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GCTGCTGCCTCCCCGGGGCCG	0.692000			M		AML									125			46		0	0	1	0	0
KATNA1	11104	broad.mit.edu	37	6	149959630	149959630	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:149959630C>A	uc003qmr.2	-	0	99	c.54G>T	c.(52-54)ttG>ttT	p.L18F	KATNA1_uc003qms.3_Missense_Mutation_p.L18F|KATNA1_uc003qmt.3_Missense_Mutation_p.L18F|KATNA1_uc011eed.1_Missense_Mutation_p.L18F	NM_007044	NP_008975	O75449	KTNA1_HUMAN	Homo sapiens katanin p60 (ATPase containing) subunit A 1 (KATNA1), transcript variant 1, mRNA.	18	Interaction with KATNB1.|Interaction with microtubule.				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AGTTTCCCAGCAATGCATATT	0.363000														46			35		1.60099e-16	1.61639e-16	1	1	0
CD163	9332	broad.mit.edu	37	12	7639308	7639308	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:7639308C>T	uc001qsz.3	-	9	2373	c.2245G>A	c.(2245-2247)Gac>Aac	p.D749N	CD163_uc001qta.3_Missense_Mutation_p.D749N|CD163_uc009zfw.2_Missense_Mutation_p.D782N	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	749	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCACTCAGGTCCCAGCTGTCA	0.562000														103			30		0	0	1	0	0
ASB16	92591	broad.mit.edu	37	17	42249664	42249664	+	Silent	SNP	G	A	A	rs139711178	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:42249664G>A	uc002ifl.1	+	1	636	c.552G>A	c.(550-552)acG>acA	p.T184T	ASB16_uc002ifm.1_Non-coding_Transcript	NM_080863	NP_543139	Q96NS5	ASB16_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 16 (ASB16), mRNA.	184					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ACCTCTGCACGATCCCCGAGT	0.592000														49			29		0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129311	248129311	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248129311C>T	uc010pzd.2	+	0	678	c.678C>T	c.(676-678)ttC>ttT	p.F226F	OR2L13_uc001ids.3_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TACTACCATTCCTAGCCATTC	0.468000														24			13		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088739	86088739	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:86088739G>A	uc021rxf.1	+	0	881	c.881G>A	c.(880-882)gGg>gAg	p.G294E	FLRT2_uc001xvr.3_Missense_Mutation_p.G294E|FLRT2_uc010atd.3_Missense_Mutation_p.G294E	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	294					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.G294G(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTGACTCAAGGGGTTTTTGAT	0.448000														199			69		0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95524276	95524276	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:95524276G>A	uc003ygo.2	-	11	2864	c.2793C>T	c.(2791-2793)acC>acT	p.T931T	KIAA1429_uc003ygp.3_Silent_p.T931T|KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	931					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTAAGGCAGTGGTAAGGCCAA	0.383000														20			18		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233489632	233489632	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:233489632G>A	uc001hvt.4	+	2	1327	c.1066G>A	c.(1066-1068)Gta>Ata	p.V356I	KIAA1804_uc001hvs.1_Missense_Mutation_p.V356I	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	356	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GGCTTATGGGGTAGCAGTCAA	0.517000														95			15		0	0	1	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50683618	50683618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:50683618C>T	uc003day.2	+	9	1394	c.752C>T	c.(751-753)tCc>tTc	p.S251F	MAPKAPK3_uc003daz.2_Missense_Mutation_p.S251F|MAPKAPK3_uc003dba.2_Missense_Mutation_p.S251F|MAPKAPK3_uc010hlr.2_Missense_Mutation_p.S251F	NM_001243926	NP_001230855	Q16644	MAPK3_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), transcript variant 1, mRNA.	251	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|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|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		CAGGCCATCTCCCCGGGGATG	0.597000														133			49		0	0	1	0	0
LCA5L	150082	broad.mit.edu	37	21	40795021	40795021	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:40795021C>T	uc002yxu.3	-	4	1031	c.718G>A	c.(718-720)Gat>Aat	p.D240N	LCA5L_uc002yxv.3_Missense_Mutation_p.D240N|LCA5L_uc021wji.1_Missense_Mutation_p.D102N|LCA5L_uc002yxw.2_Missense_Mutation_p.D240N|LCA5L_uc002yxy.3_Non-coding_Transcript	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Homo sapiens Leber congenital amaurosis 5-like (LCA5L), mRNA.	240										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TGCAAGATATCTTTAGTCTTC	0.363000														46			38		0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4536769	4536769	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:4536769G>A	uc002fyh.3	-	8	1213	c.1188C>T	c.(1186-1188)acC>acT	p.T396T	ALOX15_uc010vsd.2_Silent_p.T357T|ALOX15_uc010vse.2_Silent_p.T418T	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	396	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	TAATTTCCAGGGTGTATCGCA	0.517000														70			21		0	0	1	0	0
SLC26A10	65012	broad.mit.edu	37	12	58018757	58018758	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:58018757_58018758GG>AA	uc001spe.3	+	9	1647_1648	c.1336_1337GG>AA	c.(1336-1338)gga>AAa	p.G446K	SLC26A10_uc001spf.3_Non-coding_Transcript|SLC26A10_uc009zpz.2_Non-coding_Transcript	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA.	446	STAS.					integral to membrane	antiporter activity	p.E445delE(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					GCTCGGAGAAGGAGAAAAGGTG	0.594000														68			59		0	0	1	0	0
LSM7	51690	broad.mit.edu	37	19	2328389	2328389	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:2328389C>A	uc002lvp.4	-	1	143	c.94G>T	c.(94-96)Gaa>Taa	p.E32*	SPPL2B_uc010dsw.1_Intron|SPPL2B_uc010dsy.1_5'Flank|SPPL2B_uc010dsz.1_5'Flank|SPPL2B_uc002lvr.3_5'Flank|SPPL2B_uc002lvs.3_5'Flank	NM_016199	NP_057283	Q9UK45	LSM7_HUMAN	Homo sapiens LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae) (LSM7), mRNA.	32					nuclear mRNA splicing, via spliceosome	nucleus|ribonucleoprotein complex	U6 snRNA binding|protein binding			kidney(1)|urinary_tract(1)	2				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)		TCCTCACCTTCGCGGCCTCCC	0.502000														22			9		3.86212e-05	3.86935e-05	1	1	0
UNC93A	54346	broad.mit.edu	37	6	167708075	167708075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:167708075C>T	uc003qvq.3	+	1	333	c.158C>T	c.(157-159)tCc>tTc	p.S53F	UNC93A_uc003qvr.3_Missense_Mutation_p.S53F	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	53						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ATGCTCCTGTCCTCCATGTTC	0.617000														53			43		0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5494464	5494464	+	Silent	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:5494464C>A	uc001iia.3	+	4	645	c.507C>A	c.(505-507)acC>acA	p.T169T	NET1_uc010qar.2_5'UTR|NET1_uc001iib.3_Silent_p.T115T|NET1_uc010qas.2_5'UTR	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	Homo sapiens neuroepithelial cell transforming 1 (NET1), transcript variant 1, mRNA.	169					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell growth|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						AGTCTCTCACCACCAGGGAGA	0.488000														28			24		1.04121e-07	1.0459e-07	1	1	0
TIMM50	92609	broad.mit.edu	37	19	39976380	39976380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:39976380C>T	uc002olu.1	+	5	867	c.734C>T	c.(733-735)cCg>cTg	p.P245L	TIMM50_uc002olt.1_Non-coding_Transcript|TIMM50_uc002olv.1_5'UTR	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) (TIMM50), nuclear gene encoding mitochondrial protein, mRNA.	142	FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	RNA binding|interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTGCAGGAACCGTACTACCAG	0.622000														53			17		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955670	51955670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51955670C>T	uc002pwt.3	-	6	1530	c.1463G>A	c.(1462-1464)aGg>aAg	p.R488K	SIGLEC8_uc010yda.2_Missense_Mutation_p.R379K|SIGLEC8_uc002pwu.3_Intron|SIGLEC8_uc010eox.2_Missense_Mutation_p.R395K	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	488					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GTTGTGATTCCTCAAACAGGC	0.542000														93			22		0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157771797	157771797	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:157771797G>A	uc001frg.3	-	4	907	c.794C>T	c.(793-795)tCc>tTc	p.S265F	FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Missense_Mutation_p.S265F|FCRL1_uc001fri.3_Missense_Mutation_p.S265F|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	265	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTCAGTCAGGGAAAGGTTGAA	0.567000														152			14		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50553640	50553640	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:50553640G>A	uc003bjj.3	+	7	1307	c.1224G>A	c.(1222-1224)ggG>ggA	p.G408G	MOV10L1_uc003bjk.4_Silent_p.G408G|MOV10L1_uc011arp.2_Silent_p.G388G|MOV10L1_uc011arq.1_Silent_p.G169G|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	408					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TCCCTCCAGGGGGAAAAACCT	0.493000														118			53		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544603	82544603	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:82544603C>T	uc003uhx.2	-	6	12988	c.12699G>A	c.(12697-12699)agG>agA	p.R4233R	PCLO_uc003uhv.2_Silent_p.R4233R|PCLO_uc010lec.3_Silent_p.R1198R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4164	Ser-rich.				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						GGAGCCTTGCCCTGGAGGAAA	0.398000														12			30		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126882982	126882982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:126882982G>A	uc003vlr.2	-	0	588	c.277C>T	c.(277-279)Ctt>Ttt	p.L93F	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.L93F|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	93					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ATGTTGGAAAGGAGATCAGGG	0.502000										HNSCC(24;0.065)				27			9		0	0	1	0	0
TMEM211	255349	broad.mit.edu	37	22	25331387	25331387	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:25331387C>T	uc003abk.1	-	2	328	c.303G>A	c.(301-303)tgG>tgA	p.W101*		NM_001001663	NP_001001663	Q6ICI0	TM211_HUMAN	Homo sapiens transmembrane protein 211 (TMEM211), mRNA.	172						integral to membrane				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TTGTGTGGGGCCAGCTGATGA	0.527000														44			29		0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67205428	67205428	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:67205428G>A	uc001vik.3	-	3	3946	c.3254C>T	c.(3253-3255)cCt>cTt	p.P1085L	PCDH9_uc010aei.3_Non-coding_Transcript|PCDH9_uc001vil.3_Missense_Mutation_p.P1051L|PCDH9_uc010thl.2_Intron|U7_uc021rkh.1_5'Flank	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	1085					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L1084P(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTGAACCAGAGGAAGAGGGTG	0.552000														63			22		0	0	1	0	0
GLRA4	441509	broad.mit.edu	37	X	102974111	102974111	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:102974111G>A	uc011mse.2	-	6	1228	c.807C>T	c.(805-807)atC>atT	p.I269I	GLRA4_uc010nou.2_Silent_p.I269I	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN	Homo sapiens glycine receptor, alpha 4 (GLRA4), transcript variant 1, mRNA.	269						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.L268L(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ACAGGATGACGATGAGTAGGC	0.557000														54			48		0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119791	3119791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:3119791C>T	uc010vrc.2	+	0	877	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293W(4)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TCTGAGAAATCGGGACATGAA	0.468000														66			52		0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55615672	55615672	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:55615672C>T	uc010spf.2	+	0	864	c.864C>T	c.(862-864)atC>atT	p.I288I		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TAAACCCCATCATCTACGGCC	0.458000														32			25		0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53522512	53522512	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:53522512T>C	uc001xai.3	-	9	2341	c.2111A>G	c.(2110-2112)aAc>aGc	p.N704S	DDHD1_uc001xaj.3_Missense_Mutation_p.N711S|DDHD1_uc001xah.3_Missense_Mutation_p.N704S|DDHD1_uc001xag.3_Missense_Mutation_p.N286S|DDHD1_uc001xak.1_Missense_Mutation_p.N100S	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	704	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TTTAGCTGGGTTGAGAAAGCT	0.428000														111			31		0	0	1	0	0
ACAP3	116983	broad.mit.edu	37	1	1233952	1233952	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:1233952C>T	uc001aeb.2	-	10	932	c.858G>A	c.(856-858)tgG>tgA	p.W286*	ACAP3_uc001ady.2_Nonsense_Mutation_p.W16*|ACAP3_uc001aea.2_Nonsense_Mutation_p.W244*	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 (ACAP3), mRNA.	286	PH.				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CTCACCGGTTCCATGTCTTGA	0.652000														21			13		0	0	1	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48198219	48198219	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:48198219C>T	uc002phh.4	+	8	3152	c.2958C>T	c.(2956-2958)tcC>tcT	p.S986S	GLTSCR1_uc002phi.4_Silent_p.S744S	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 1 (GLTSCR1), mRNA.	986							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CGCAGACCTCCACCAGCCTGG	0.721000														4			10		0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143826610	143826610	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:143826610G>A	uc011kua.2	+	0	405	c.405G>A	c.(403-405)atG>atA	p.M135I		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					ATAGCCTCATGAGCTGGAGAG	0.527000														129			40		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325217	57325217	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:57325217G>A	uc002qnu.2	-	6	4944	c.4593C>T	c.(4591-4593)atC>atT	p.I1531I	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.I1502I|PEG3_uc002qnv.2_Silent_p.I1531I|PEG3_uc002qnw.2_Silent_p.I1407I|PEG3_uc002qnx.2_Silent_p.I1405I|PEG3_uc010etr.2_Silent_p.I1531I	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1531					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCTCAAATATGATCATGCTGG	0.478000														80			20		0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612527	20612527	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20612527C>T	uc010tla.2	+	0	633	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TCCTGTGCTTCCTGGGCCTTC	0.527000														43			21		0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26875323	26875323	+	Splice_Site	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:26875323T>C	uc003acl.3	-	3	701	c.42_splice	c.e3-1	p.W14_splice	HPS4_uc003aci.3_Missense_Mutation_p.R9G|HPS4_uc003acj.3_5'UTR|HPS4_uc003ack.3_Splice_Site|HPS4_uc003acn.3_Splice_Site|HPS4_uc010gvd.1_Splice_Site_p.W14_splice|HPS4_uc003aco.1_Missense_Mutation_p.R9G	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA.	14					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TAATTCCACCTGGCAAGAGAA	0.438000									Hermansky-Pudlak syndrome					11			6		0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241262011	241262011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:241262011G>A	uc001hyv.2	-	2	460	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	RGS7_uc010pyh.2_Missense_Mutation_p.R18C|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.R44C|RGS7_uc009xgn.1_Missense_Mutation_p.R44C|RGS7_uc001hyw.2_Missense_Mutation_p.R44C	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	44	DEP.				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|protein binding|signal transducer activity	p.R44S(3)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTGACCGTACGAATAGGAATT	0.358000														75			9		0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158064987	158064987	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:158064987C>T	uc003ipj.2	+	7	982	c.780C>T	c.(778-780)ttC>ttT	p.F260F	GLRB_uc021xtp.1_Silent_p.F260F|GLRB_uc021xtq.1_Silent_p.F260F	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	260					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	AAGTCATCTTCACCCTGAGGA	0.502000														22			14		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565154	58565154	+	Missense_Mutation	SNP	C	T	T	rs143175520		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58565154C>T	uc002qrc.1	+	5	1209	c.962C>T	c.(961-963)cCg>cTg	p.P321L		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	321					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P321Q(2)|p.P321P(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGGCCCTTTCCGTGCCCCGAG	0.632000														33			28		0	0	1	0	0
KIAA0146	23514	broad.mit.edu	37	8	48309023	48309023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:48309023C>T	uc003xqd.3	+	5	675	c.613C>T	c.(613-615)Cct>Tct	p.P205S	KIAA0146_uc011lcz.2_Intron|KIAA0146_uc011lda.2_Intron|KIAA0146_uc011ldb.2_Missense_Mutation_p.P205S|KIAA0146_uc010lxs.3_5'UTR|KIAA0146_uc011ldc.2_Missense_Mutation_p.P135S|KIAA0146_uc011ldd.2_Missense_Mutation_p.P145S|KIAA0146_uc003xqe.3_Intron|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc011lde.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	Homo sapiens KIAA0146 (KIAA0146), mRNA.	205										central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Lung NSC(58;0.175)				TTCAGAATCCCCTCACAAATA	0.363000														45			21		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83936900	83936900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:83936900C>T	uc002bjt.1	-	1	272	c.184G>A	c.(184-186)Gga>Aga	p.G62R	BNC1_uc010uos.1_Missense_Mutation_p.G50R	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	62					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GCCACCCATCCATGCTTGCAT	0.418000														43			46		0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158669536	158669536	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:158669536T>A	uc001fsu.1	-	0	907	c.907A>T	c.(907-909)Aaa>Taa	p.K303*		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					ATGTGCTTTTTTATAGCTTCT	0.383000														51			5		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702272	27702272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:27702272C>T	uc001itu.2	-	0	1026	c.908G>A	c.(907-909)gGa>gAa	p.G303E		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	303					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAAGATGTATCCTCCGAAGAA	0.597000														118			22		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89941810	89941810	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:89941810C>T	uc003kju.3	+	15	3020	c.2924C>T	c.(2923-2925)aCc>aTc	p.T975I	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	975	Calx-beta 7.				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)		GAAGAATTTACCGTTATCCTA	0.338000														10			6		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136144	55136144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55136144G>A	uc010rif.2	+	0	785	c.785G>A	c.(784-786)cGa>cAa	p.R262Q		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GAAGGGAAACGAAAAGCTTTC	0.438000														67			56		0	0	1	0	0
ENKUR	219670	broad.mit.edu	37	10	25279499	25279499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:25279499C>T	uc001isg.1	-	3	652	c.487G>A	c.(487-489)Gag>Aag	p.E163K	ENKUR_uc001ish.1_Missense_Mutation_p.E101K	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	Homo sapiens enkurin, TRPC channel interacting protein (ENKUR), mRNA.	163						cilium|flagellum	SH3 domain binding|calmodulin binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TTTATTTCCTCGTTTCGCTTA	0.363000														61			14		0	0	1	0	0
POLR1E	64425	broad.mit.edu	37	9	37493678	37493678	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:37493678C>T	uc003zzz.1	+	4	999	c.711C>T	c.(709-711)atC>atT	p.I237I	POLR1E_uc011lqj.1_Intron|POLR1E_uc003zzy.1_Silent_p.I175I|POLR1E_uc011lqk.1_Silent_p.I104I	NM_022490	NP_071935	Q9GZS1	RPA49_HUMAN	Homo sapiens polymerase (RNA) I polypeptide E, 53kDa (POLR1E), mRNA.	237					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding	p.N237N(1)		autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CAGAGACTATCATTGATACGA	0.458000														24			9		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152420431	152420431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:152420431C>T	uc021vrb.1	-	88	13411	c.13382G>A	c.(13381-13383)gGg>gAg	p.G4461E	NEB_uc002txr.3_Missense_Mutation_p.G927E|NEB_uc002txu.3_Missense_Mutation_p.G6162E|NEB_uc021vrc.1_Missense_Mutation_p.G6162E|NEB_uc010fnx.3_Missense_Mutation_p.G4449E|NEB_uc021vrd.1_Missense_Mutation_p.G4461E	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4461					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCCCACGCCCCTTTATACAG	0.438000														11			6		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958677	51958677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51958677C>T	uc002pwt.3	-	3	1113	c.1046G>A	c.(1045-1047)gGc>gAc	p.G349D	SIGLEC8_uc010yda.2_Missense_Mutation_p.G240D|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.G256D	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	349					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCCACCTGTGCCCTCATTCTG	0.627000														39			8		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65494363	65494363	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:65494363G>A	uc002aon.2	-	7	1214	c.1033C>T	c.(1033-1035)Cat>Tat	p.H345Y		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	345	Ig-like C2-type.				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GTGTCATTATGATACCTGCAA	0.532000														110			36		0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50338452	50338452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:50338452G>A	uc002egd.1	+	9	1818	c.1550G>A	c.(1549-1551)cGg>cAg	p.R517Q	ADCY7_uc002egb.1_Missense_Mutation_p.R517Q|ADCY7_uc002egc.2_Missense_Mutation_p.R517Q	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	517					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CCCAACGGGCGGAGGCCTAAG	0.647000														6			21		0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234346084	234346084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:234346084C>T	uc002vui.1	+	7	893	c.881C>T	c.(880-882)tCa>tTa	p.S294L	DGKD_uc002vuj.1_Missense_Mutation_p.S250L|DGKD_uc010fyh.1_Missense_Mutation_p.S161L|DGKD_uc010fyi.1_5'Flank|DGKD_uc002vuk.1_Missense_Mutation_p.S161L	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	294					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TGCAAAGTGTCAGTCATCCCA	0.552000														14			6		0	0	1	0	0
DQX1	165545	broad.mit.edu	37	2	74750657	74750657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:74750657G>A	uc010yrw.2	-	4	989	c.824C>T	c.(823-825)tCc>tTc	p.S275F	DQX1_uc002smc.3_5'UTR	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.	275	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						ACAGCACAGGGAAATTTCCTG	0.527000														69			28		0	0	1	0	0
XPO4	64328	broad.mit.edu	37	13	21357876	21357876	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:21357876G>A	uc001unq.4	-	22	3477	c.3441C>T	c.(3439-3441)ctC>ctT	p.L1147L		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	Homo sapiens exportin 4 (XPO4), mRNA.	1147					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TTACACAAAGGAGACCACCAA	0.403000														28			14		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107821574	107821574	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:107821574G>A	uc022ccg.1	+	12	943	c.741G>A	c.(739-741)caG>caA	p.Q247Q	COL4A5_uc004enz.1_Silent_p.Q247Q	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	247	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCAGTGAACAGAAAAGACCAA	0.423000									Alport syndrome with Diffuse Leiomyomatosis					4			73		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47629473	47629473	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:47629473C>T	uc001rpq.3	+	1	1152	c.627C>T	c.(625-627)ttC>ttT	p.F209F	FAM113B_uc001rpn.3_Silent_p.F209F|FAM113B_uc021qxi.1_Silent_p.F209F	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	209							hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					AACATAACTTCGATGTACTGG	0.587000														21			4		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81702241	81702241	+	Silent	SNP	A	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:81702241A>C	uc001kbh.3	-	3	379	c.336T>G	c.(334-336)ggT>ggG	p.G112G		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	112	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			GACCAGGCACACCGGGAGGTC	0.572000														37			12		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10370002	10370002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10370002C>T	uc002gmn.3	-	2	172	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	21	Myosin head-like.				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						CGCTCCTTTTCAGACTTTCGG	0.483000														37			74		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108147647	108147647	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:108147647T>G	uc003dxa.1	-	27	3511	c.3454A>C	c.(3454-3456)Acc>Ccc	p.T1152P		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1152						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGGTCTTGGGTGAGGTCAGCT	0.443000														92			24		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	103988288	103988288	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:103988288G>A	uc001tjw.3	+	3	517	c.331_splice	c.e3+1	p.E111_splice		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	111	EGF-like 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGACTGTATAGGTAAGTGGCA	0.463000														10			42		0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5131469	5131469	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:5131469C>T	uc010xim.2	+	11	1908	c.1800C>T	c.(1798-1800)tcC>tcT	p.S600S	KDM4B_uc002mbq.4_Silent_p.S566S|KDM4B_uc002mbr.4_Silent_p.S324S	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	566					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AACCAGTTTCCCCCATGGAGC	0.677000														30			12		0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472445	47472445	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:47472445G>A	uc001rpm.3	-	2	996	c.341C>T	c.(340-342)tCc>tTc	p.S114F	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.S114F|AMIGO2_uc001rpl.3_Missense_Mutation_p.S114F|AMIGO2_uc021qxg.1_Missense_Mutation_p.S114F	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	114					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TGGAGTTGTGGAAAAACTGCC	0.433000														69			23		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73070995	73070995	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:73070995C>T	uc004ebm.1	-	0		c.1594G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CAGCACTGTCCATCCCACCTT	0.502000														12			120		0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183883230	183883230	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:183883230C>T	uc003fms.3	+	6	854	c.714C>T	c.(712-714)atC>atT	p.I238I	DVL3_uc011bqw.2_Silent_p.I238I|DVL3_uc003fmt.3_5'UTR|DVL3_uc003fmu.3_Silent_p.I70I	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.	238					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			TCAGCAGCATCACGGACTCCA	0.547000														28			8		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38885909	38885909	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:38885909C>T	uc021yzh.1	+	69	10626	c.10517C>T	c.(10516-10518)cCt>cTt	p.P3506L	DNAH8_uc003ooe.2_Missense_Mutation_p.P3289L|LOC100131047_uc003oof.2_Intron	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						GAAGTGTTGCCTCTGAAGGTA	0.378000														33			8		0	0	1	0	0
CHP2	63928	broad.mit.edu	37	16	23768865	23768866	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:23768865_23768866GG>AA	uc002dmb.1	+	6	975_976	c.552_553GG>AA	c.(550-555)atggac>atAAac	p.184_185MD>IN		NM_022097	NP_071380	O43745	CHP2_HUMAN	Homo sapiens calcineurin B homologous protein 2 (CHP2), mRNA.	184	EF-hand 4.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		TAGAGAAGATGGACGTTGAGCA	0.520000														76			26		0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111489	7111489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:7111489G>A	uc001mfc.2	+	0	1325	c.1138G>A	c.(1138-1140)Gga>Aga	p.G380R		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	380	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGCCGTCTAGGAGGCCGCTT	0.572000														11			4		0	0	1	0	0
ADCK3	56997	broad.mit.edu	37	1	227169749	227169749	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:227169749C>T	uc001hqm.1	+	10	4171	c.752C>T	c.(751-753)tCc>tTc	p.S251F	ADCK3_uc001hqn.1_Missense_Mutation_p.S251F|ADCK3_uc009xeq.1_Missense_Mutation_p.S199F|ADCK3_uc010pvq.1_5'UTR|ADCK3_uc010pvr.1_5'UTR|ADCK3_uc001hqo.1_5'UTR|ADCK3_uc009xer.1_5'Flank	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	Homo sapiens aarF domain containing kinase 3 (ADCK3), nuclear gene encoding mitochondrial protein, mRNA.	251					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GTGCTGGGTTCCAGTCCTTTC	0.652000														23			36		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121930184	121930184	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:121930184C>T	uc004bkc.2	-	7	1920	c.1464G>A	c.(1462-1464)ctG>ctA	p.L488L		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	488					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCAGGTACTTCAGCTCCAGGT	0.577000														12			15		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54783910	54783910	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:54783910G>A	uc002qfb.3	-	3	357	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.L31L|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.L31L|LILRB2_uc010yet.2_Intron|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	31	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCAGCCCACAGGGTGGGCTTG	0.562000														134			29		0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44013247	44013247	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:44013247C>T	uc002lcb.1	+	1	207	c.156C>T	c.(154-156)ttC>ttT	p.F52F	RNF165_uc002lby.1_5'UTR|RNF165_uc010dnn.1_Intron	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	52							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CTCCCGACTTCCCGCTGGCCC	0.716000														0			8		0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132232073	132232073	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:132232073C>T	uc003kyd.3	-	10	2657	c.2249G>A	c.(2248-2250)aGa>aAa	p.R750K	AFF4_uc011cxk.2_Missense_Mutation_p.R428K|AFF4_uc003kye.1_Missense_Mutation_p.R750K	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	750					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGAGCCTCTCTCGTGTGCTT	0.408000														30			78		0	0	1	0	0
abParts	0	broad.mit.edu	37	15	22473054	22473054	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:22473054G>A	uc001yuj.2	-	6		c.274C>T								Parts of antibodies, mostly variable regions.																		CTCCCACTATGATAGATTTCC	0.562000														313			20		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121016577	121016577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:121016577C>T	uc010rzo.2	+	10	3857	c.3857C>T	c.(3856-3858)cCg>cTg	p.P1286L		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1286	VWFD 3.				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)		GACCGCTGTCCGTCCTGTGCC	0.572000														31			25		0	0	1	0	0
POTEM	641455	broad.mit.edu	37	14	20019948	20019948	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20019948C>T	uc001vwc.3	-	0	325	c.273G>A	c.(271-273)atG>atA	p.M91I	POTEM_uc001vwb.3_Non-coding_Transcript	NM_001145442	NP_001138914	A6NI47	POTEM_HUMAN	Homo sapiens POTE ankyrin domain family, member M (POTEM), mRNA.	91										endometrium(4)|kidney(1)|lung(4)	9						TGAGTGTCTTCATAGCAGAGT	0.632000														287			43		0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46574149	46574149	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:46574149C>T	uc002ruv.3	+	1	674	c.164C>T	c.(163-165)tCc>tTc	p.S55F		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	55	Helix-loop-helix motif.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GACAAGGCCTCCATCATGCGA	0.622000														89			79		0	0	1	0	0
OVCH2	341277	broad.mit.edu	37	11	7720305	7720305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:7720305C>T	uc010rbf.2	-	7	917	c.917G>A	c.(916-918)aGc>aAc	p.S306N		NM_198185	NP_937828			Homo sapiens ovochymase 2 (gene/pseudogene) (OVCH2), mRNA.											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		ACCTCTGGAGCTCTTTCTCCG	0.463000														8			12		0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40400106	40400106	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:40400106C>T	uc003oph.1	-	1	1212	c.747G>A	c.(745-747)gaG>gaA	p.E249E		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	249	LRRCT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCAGAGAAGCTCACAATTGC	0.602000														33			21		0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29899001	29899001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:29899001C>T	uc010vec.2	-	6	1422	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.E323K|SEZ6L2_uc002dur.4_Missense_Mutation_p.E323K|SEZ6L2_uc002duq.4_Missense_Mutation_p.E393K|SEZ6L2_uc010ved.2_Missense_Mutation_p.E349K|SEZ6L2_uc002dus.4_Missense_Mutation_p.E279K	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	393	CUB 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGACCCTTTCAAAGTGCAGG	0.632000														63			24		0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124252426	124252426	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:124252426C>T	uc010sai.2	-	0	814	c.814G>A	c.(814-816)Gtt>Att	p.V272I		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K271N(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ACAGAAGAAACTTTTCCCTGC	0.418000														3			40		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43539310	43539310	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:43539310C>T	uc002zag.1	+	13	2949	c.2949C>T	c.(2947-2949)atC>atT	p.I983I	UMODL1_uc002zad.1_Silent_p.I783I|UMODL1_uc002zae.1_Silent_p.I911I|UMODL1_uc002zaf.1_Silent_p.I855I|UMODL1_uc002zal.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	855						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACGGCAGCATCGTGGTGGAGT	0.597000														199			66		0	0	1	0	0
RBPJL	11317	broad.mit.edu	37	20	43943151	43943151	+	Silent	SNP	A	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:43943151A>C	uc002xns.3	+	8	1038	c.966A>C	c.(964-966)ccA>ccC	p.P322P	RBPJL_uc002xnt.3_Silent_p.P322P	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.	322					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GCAGTCCCCCAGGAGGGGGTG	0.522000														90			26		0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52003212	52003212	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52003212C>T	uc002pwx.1	-	1	826	c.770G>A	c.(769-771)tGg>tAg	p.W257*	SIGLEC12_uc002pww.1_Nonsense_Mutation_p.W139*|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	257	Ig-like V-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TATGTAGTTCCATTTCCTGCT	0.557000														58			12		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106124612	106124612	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:106124612C>T	uc001kyh.3	+	3	696	c.562C>T	c.(562-564)Cga>Tga	p.R188*		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	188										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GGAAACAGAGCGATCAAAAGA	0.473000														20			7		0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27700155	27700155	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:27700155G>A	uc002rku.3	-	12	1305	c.1254C>T	c.(1252-1254)acC>acT	p.T418T	IFT172_uc002rkv.3_Silent_p.T392T|IFT172_uc010yls.2_Silent_p.T397T|IFT172_uc010ezc.3_Silent_p.T418T	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	418					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ATTCCACCAGGGTTAGCTCTC	0.463000														214			30		0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186275896	186275896	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:186275896G>A	uc001gru.4	+	6	1096	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.E308K|PRG4_uc009wyl.3_Missense_Mutation_p.E256K|PRG4_uc009wym.3_Missense_Mutation_p.E215K|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	349	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.E349G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACTCCCAAGGAGCCCACGCC	0.552000														66			40		0	0	1	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41430260	41430260	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:41430260G>A	uc010ehg.1	+	0	91	c.83G>A	c.(82-84)gGc>gAc	p.G28D	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Missense_Mutation_p.G28D|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						AACTCCCATGGCACCCTCCCA	0.582000														66			24		0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39602662	39602662	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:39602662C>T	uc003oot.2	-	4	567	c.472G>A	c.(472-474)Gat>Aat	p.D158N	KIF6_uc010jxa.1_5'UTR|KIF6_uc011dua.1_Missense_Mutation_p.D158N|KIF6_uc010jxb.1_Missense_Mutation_p.D158N	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	158	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGTCTTGGATCCAAAAGATCA	0.358000														82			19		0	0	1	0	0
SLC2A3	6515	broad.mit.edu	37	12	8074185	8074185	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:8074185G>A	uc001qtr.3	-	9	1577	c.1315C>T	c.(1315-1317)Ctc>Ttc	p.L439F		NM_006931	NP_008862	P11169	GTR3_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.	439					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)		AAGGTAATGAGGAAGCCGGTG	0.448000														54			14		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10450895	10450895	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10450895G>A	uc010coi.3	-	3	373	c.245C>T	c.(244-246)cCt>cTt	p.P82L	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.P82L|MYH2_uc010coj.3_Missense_Mutation_p.P82L	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	82	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATATTTGGGAGGGTTCATGGG	0.438000														100			30		0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22574525	22574525	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:22574525G>A	uc002nqt.2	-	3	1634	c.1512C>T	c.(1510-1512)caC>caT	p.H504H		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H504N(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GTGTAGTAAGGTGTGAGGACT	0.388000														17			18		0	0	1	0	0
CRYBB3	1417	broad.mit.edu	37	22	25603033	25603033	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:25603033C>T	uc003abo.1	+	5	562	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S		NM_004076	NP_004067	P26998	CRBB3_HUMAN	Homo sapiens crystallin, beta B3 (CRYBB3), mRNA.	164	Beta/gamma crystallin 'Greek key' 4.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						CTATGAGTTCCCCGGCTACCG	0.637000														68			14		0	0	1	0	0
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	RNA	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:41962602G>T	uc004aca.4	-	2		c.907C>A								Homo sapiens keratinocyte growth factor-like protein 2 (KGFLP2), non-coding RNA.																		TTCTTTCTTTGTTTTTTTTCC	0.373000														14			7		7.48243e-07	7.51049e-07	1	1	0
SEMA3G	56920	broad.mit.edu	37	3	52470034	52470034	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:52470034A>G	uc003dea.1	-	15	1934	c.1934T>C	c.(1933-1935)cTt>cCt	p.L645P		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	645	Ig-like C2-type.				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)		GAAACGGCTAAGCCTGCGGAA	0.642000														20			31		0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8741159	8741159	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:8741159G>A	uc002glq.1	-	4	459	c.219C>T	c.(217-219)atC>atT	p.I73I	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	73					platelet activation	cytosol											GCAAGGGAATGATGACATGCC	0.572000														51			12		0	0	1	0	0
LYZL4	131375	broad.mit.edu	37	3	42445549	42445549	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:42445549C>T	uc003cle.3	-	3	609	c.360G>A	c.(358-360)ggG>ggA	p.G120G		NM_144634	NP_653235	Q96KX0	LYZL4_HUMAN	Homo sapiens lysozyme-like 4 (LYZL4), mRNA.	120					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.G120V(1)		central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		ATGCTCCCATCCCTTCTTTTC	0.378000														24			12		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1274170	1274170	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:1274170G>A	uc001lta.3	+	32	15236	c.15177G>A	c.(15175-15177)tcG>tcA	p.S5059S		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	5059					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)		TCAAAGTGTCGGACCCGAGCC	0.647000														20			7		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120760552	120760552	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:120760552G>A	uc003eec.4	+	3	433	c.293G>A	c.(292-294)gGg>gAg	p.G98E	STXBP5L_uc011bji.2_Missense_Mutation_p.G98E	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	98					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.G98W(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATTAGACTCGGGAGACCTGGT	0.338000														26			12		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2077157	2077157	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:2077157G>A	uc003wpx.4	+	31	3875	c.3737G>A	c.(3736-3738)gGa>gAa	p.G1246E	MYOM2_uc011kwi.2_Missense_Mutation_p.G671E	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1246					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACCCCAGAAGGAATACGACTT	0.448000														43			10		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202033	140202033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140202033G>A	uc003lhl.2	+	0	673	c.673G>A	c.(673-675)Gtt>Att	p.V225I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.V225I|PCDHAC2_uc003lhj.1_Missense_Mutation_p.V225I	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	241	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAGGTACAGTTCAGTTGTT	0.383000														66			23		0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94289029	94289029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:94289029C>T	uc003kkx.2	-	2	875	c.875G>A	c.(874-876)gGa>gAa	p.G292E	MCTP1_uc003kkv.2_Missense_Mutation_p.G71E|MCTP1_uc003kkw.2_Missense_Mutation_p.G71E|MCTP1_uc003kkz.2_Intron	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	292	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.G292E(2)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AACTTCTTTTCCTCCGATTTT	0.373000														9			5		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61562542	61562542	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:61562542G>A	uc010xeu.2	+	3	546	c.213G>A	c.(211-213)atG>atA	p.M71I	SERPINB2_uc002ljo.3_Missense_Mutation_p.M71I|SERPINB2_uc002ljp.1_5'Flank|SERPINB2_uc002ljq.1_5'Flank	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	71					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TTACCCCCATGACTCCAGAGA	0.443000														38			36		0	0	1	0	0
THBS3	7059	broad.mit.edu	37	1	155170709	155170709	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155170709C>T	uc001fix.3	-	12	1632	c.1527G>A	c.(1525-1527)ggG>ggA	p.G509G	THBS3_uc021pat.1_5'UTR|THBS3_uc010pfu.2_Silent_p.G389G|THBS3_uc009wqi.3_Silent_p.G500G|THBS3_uc001fiy.3_Silent_p.G38G|THBS3_uc010pfv.2_Non-coding_Transcript|THBS3_uc001fja.2_Non-coding_Transcript	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	509					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	p.G509V(1)		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)			TGATCCCATCCCCATCAGCAT	0.542000														261			43		0	0	1	0	0
RBM23	55147	broad.mit.edu	37	14	23375447	23375447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:23375447G>A	uc001whg.3	-	4	557	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C	RBM23_uc001whh.3_Missense_Mutation_p.R104C|RBM23_uc001whi.3_Missense_Mutation_p.R104C|RBM23_uc010tne.2_5'UTR|RBM23_uc001whj.3_5'UTR|RBM23_uc001whk.1_Missense_Mutation_p.R120C	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN	Homo sapiens RNA binding motif protein 23 (RBM23), transcript variant 1, mRNA.	120	Arg-rich.				mRNA processing	nucleus	RNA binding|nucleotide binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		CGATCCTCACGACGATGGTCC	0.488000														59			18		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10944671	10944672	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:10944671_10944672GG>AA	uc002yip.1	-	10	930_931	c.562_563CC>TT	c.(562-564)ccc>TTc	p.P188F	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.P170F|TPTE_uc002yir.1_Missense_Mutation_p.P150F|TPTE_uc010gkv.1_Missense_Mutation_p.P50F	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	188					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.P188S(1)|p.P170S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCATACCTGGGAATATTCCTA	0.287000														255			18		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058190	152058190	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152058190C>T	uc001ezo.1	-	2	2033	c.1968G>A	c.(1966-1968)caG>caA	p.Q656Q		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	656							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)			CTGTGGATTCCTGTGCTTCTG	0.537000														121			94		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168096985	168096985	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:168096985C>T	uc010jjg.3	-	34	4580	c.4160G>A	c.(4159-4161)gGa>gAa	p.G1387E	SLIT3_uc003mab.3_Missense_Mutation_p.G1380E	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1380	EGF-like 8.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACACATTTTCCATGGTGGCA	0.567000														22			10		0	0	1	0	0
CTAGE6P	340307	broad.mit.edu	37	7	143453536	143453536	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:143453536C>T	uc003wdk.4	-	0	1308	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K	FAM115C_uc011ktn.1_Intron|FAM115C_uc011kto.2_Intron|FAM115C_uc011ktp.2_Intron|FAM115C_uc011ktq.1_Intron|FAM115C_uc011ktr.1_Intron|FAM115C_uc011kts.1_Intron|FAM115C_uc003wdj.1_Intron	NM_178561	NP_848656	Q86UF2	CTGE6_HUMAN	Homo sapiens CTAGE family, member 6, pseudogene (CTAGE6P), mRNA.	406						integral to membrane											CGGTAATTTTCCTCCACTGTT	0.368000														106			21		0	0	1	0	0
ZNF584	201514	broad.mit.edu	37	19	58929094	58929094	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58929094C>T	uc002qsp.3	+	3	1661	c.1209C>T	c.(1207-1209)gtC>gtT	p.V403V	ZNF584_uc010yia.2_Non-coding_Transcript|ZNF584_uc010yib.2_3'UTR	NM_173548	NP_775819	Q8IVC4	ZN584_HUMAN	Homo sapiens zinc finger protein 584 (ZNF584), mRNA.	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		ACAAGAAAGTCCATACTCCAG	0.498000														56			42		0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45315495	45315495	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45315495G>A	uc002ozu.3	+	2	324	c.280G>A	c.(280-282)Gac>Aac	p.D94N	BCAM_uc002ozt.1_Missense_Mutation_p.D94N	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	94	Ig-like V-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CACAATGCACGACACCCGGGG	0.706000														118			76		0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6290975	6290975	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:6290975C>T	uc001mcp.3	+	1	483	c.228C>T	c.(226-228)atC>atT	p.I76I	CCKBR_uc001mcq.3_Silent_p.I4I|CCKBR_uc001mcr.3_Silent_p.I76I|CCKBR_uc001mcs.3_Silent_p.I76I	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	76					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TGCTCATCATCGTGGTCCTGG	0.552000														83			21		0	0	1	0	0
NR1I2	8856	broad.mit.edu	37	3	119526231	119526231	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:119526231G>A	uc003edj.3	+	1	1973	c.134G>A	c.(133-135)gGg>gAg	p.G45E	NR1I2_uc003edi.3_Missense_Mutation_p.G45E|NR1I2_uc003edk.3_Missense_Mutation_p.G84E	NM_003889	NP_003880	O75469	NR1I2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 2 (NR1I2), transcript variant 1, mRNA.	45					drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CGTGTATGTGGGGACAAGGCC	0.522000														79			20		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42875633	42875633	+	Splice_Site	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:42875633A>G	uc002otl.4	+	40	7703	c.7068_splice	c.e40+1	p.Q2356_splice	MEGF8_uc002otm.4_Splice_Site_p.Q1964_splice|MEGF8_uc002otn.4_Intron	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	2423						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TACAAGTACCAGGTGCGGCTG	0.617000														36			26		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13814812	13814812	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:13814812C>T	uc003jfd.2	-	42	7174	c.7132G>A	c.(7132-7134)Gag>Aag	p.E2378K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2378	AAA 2 (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)					TTATGAGGCTCGAAAATGATC	0.418000									Kartagener syndrome					26			14		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196887394	196887394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:196887394G>A	uc001gtp.3	+	9	1732	c.1595G>A	c.(1594-1596)gGa>gAa	p.G532E	CFH_uc021pgt.1_Missense_Mutation_p.G155E|CFH_uc009wyy.3_Missense_Mutation_p.G531E|CFH_uc001gto.3_Missense_Mutation_p.G285E	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	884	Sushi 9.				complement activation, alternative pathway	extracellular space		p.G285E(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAGTTAAAAGGAAAAAGTGAC	0.279000														52			8		0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165551680	165551680	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:165551680G>A	uc002ucp.3	-	11	2558	c.2336C>T	c.(2335-2337)tCc>tTc	p.S779F	COBLL1_uc002ucq.3_Missense_Mutation_p.S741F|COBLL1_uc010zcw.2_Missense_Mutation_p.S846F|COBLL1_uc010zcx.2_Missense_Mutation_p.S787F|COBLL1_uc002ucn.3_Missense_Mutation_p.S207F|COBLL1_uc002uco.3_Missense_Mutation_p.S510F	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	817										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TATTTCCAAGGATTTGGGAGG	0.378000														83			29		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153593319	153593319	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:153593319G>A	uc004fkk.2	-	11	1947	c.1698C>T	c.(1696-1698)ttC>ttT	p.F566F	FLNA_uc010nuu.1_Silent_p.F566F	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	566					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTTCACTTCGAAGGGACTGC	0.637000														9			93		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54537588	54537588	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:54537588G>A	uc003dhf.3	+	4	499	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E57K|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	151						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GCTGGGAAAGGAATTCATCTT	0.373000														28			47		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109806962	109806962	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:109806962C>A	uc001dxa.4	+	9	5325	c.5264C>A	c.(5263-5265)gCc>gAc	p.A1755D		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1755	Laminin G-like 2.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGCGGTGTGGCCCGTGGCTTT	0.677000											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		140			125		4.26851e-46	4.33162e-46	1	1	0
RYR3	6263	broad.mit.edu	37	15	33941313	33941313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:33941313C>T	uc001zhi.3	+	30	4089	c.4019C>T	c.(4018-4020)cCa>cTa	p.P1340L	RYR3_uc010bar.3_Missense_Mutation_p.P1340L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1340	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.P1340Q(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGACAGGATCCATCCTGTGTC	0.532000														81			114		0	0	1	0	0
CIDEB	27141	broad.mit.edu	37	14	24775314	24775314	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:24775314C>T	uc001won.3	-	3	490	c.366G>A	c.(364-366)cgG>cgA	p.R122R	CIDEB_uc001woo.3_Silent_p.R122R|CIDEB_uc001wop.3_Silent_p.R122R	NM_014430	NP_055245	Q9UHD4	CIDEB_HUMAN	Homo sapiens cell death-inducing DFFA-like effector b (CIDEB), mRNA.	122					DNA damage response, signal transduction resulting in induction of apoptosis|apoptosis	cytosol				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		TGGGCCTCTCCCGTCCCAGGC	0.537000														75			33		0	0	1	0	0
ZNF467	168544	broad.mit.edu	37	7	149467602	149467602	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:149467602G>A	uc003wgd.2	-	2	219	c.78C>T	c.(76-78)ccC>ccT	p.P26P	ZNF467_uc003wgc.3_Silent_p.P26P	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	Homo sapiens zinc finger protein 467 (ZNF467), mRNA.	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATCCTTCCCTGGGCTCACTTT	0.532000														38			53		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6131123	6131123	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:6131123A>G	uc001qnn.1	-	26	3867	c.3617T>C	c.(3616-3618)tTt>tCt	p.F1206S	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1206					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCCTGAGGCAAAACGCCGGCC	0.478000														179			28		0	0	1	0	0
EEF1A2	1917	broad.mit.edu	37	20	62126156	62126156	+	Splice_Site	SNP	A	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:62126156A>C	uc002yfe.1	-	4	787	c.621_splice	c.e4+1	p.N207_splice		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	207						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)			GCCGCCACTCACGTTGGGGGA	0.701000														29			4		0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	31015036	31015036	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:31015036C>T	uc003xio.4	+	32	4760	c.3972C>T	c.(3970-3972)ccC>ccT	p.P1324P	WRN_uc010lvk.3_Silent_p.P791P	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	1324					DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity	p.P1324P(2)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GAAACCCTCCCGTCAACTCAG	0.473000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					28			15		0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616751	248616751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248616751C>T	uc001iek.1	+	0	653	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCTCTGTCTCCTACACGCAC	0.532000														90			18		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20959876	20959876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:20959876C>T	uc010vbe.2	-	56	11272	c.11272G>A	c.(11272-11274)Gaa>Aaa	p.E3758K	DNAH3_uc010vbd.2_Missense_Mutation_p.E1193K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3758					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)		TCCTCAATTTCCTTACAGTAG	0.532000														19			22		0	0	1	0	0
FAM75C2	645961	broad.mit.edu	37	9	90749740	90749741	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:90749740_90749741GG>AA	uc011lti.2	-	0	160_161	c.131_132CC>TT	c.(130-132)ccc>cTT	p.P44L		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	44																	AAGAGAAGTAGGGGAGTAATAG	0.510000														30			5		0	0	1	0	0
RNF40	9810	broad.mit.edu	37	16	30779804	30779804	+	Silent	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:30779804C>A	uc002dzq.3	+	12	2752	c.1932C>A	c.(1930-1932)acC>acA	p.T644T	RNF40_uc010caa.3_Silent_p.T644T|RNF40_uc010cab.3_Silent_p.T544T|RNF40_uc010vfa.2_5'UTR|RNF40_uc010vfb.2_Silent_p.T336T|RNF40_uc002dzr.3_Silent_p.T644T|RNF40_uc010vfc.1_5'UTR	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.	644					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			TGGAAGAAACCAAGCGGAAGG	0.602000														51			15		1.3612e-06	1.3658e-06	1	1	0
SCARA5	286133	broad.mit.edu	37	8	27779759	27779759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:27779759G>A	uc003xgj.3	-	3	856	c.245C>T	c.(244-246)tCc>tTc	p.S82F	SCARA5_uc010luz.3_Intron|SCARA5_uc003xgk.3_Missense_Mutation_p.S39F|SCARA5_uc003xgl.3_Missense_Mutation_p.S82F	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA.	82					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCGCGGCCTGGACACTGCGGA	0.647000														32			4		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40397974	40397974	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:40397974G>A	uc002omp.4	-	13	7001	c.6993C>T	c.(6991-6993)gaC>gaT	p.D2331D		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2331						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACGACAGAAGTCCGGCCGCC	0.642000														68			16		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179397432	179397432	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179397432C>T	uc021vsy.1	-	306	96431	c.96206G>A	c.(96205-96207)cGg>cAg	p.R32069Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R25764Q|TTN_uc021vta.1_Missense_Mutation_p.R25697Q|TTN_uc021vtb.1_Missense_Mutation_p.R25572Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32996	Fibronectin type-III 132.						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)			AGGTGTACGCCGGCGGGCTGG	0.458000														17			25		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2161121	2161121	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:2161121G>A	uc002cos.1	-	14	4256	c.4047C>T	c.(4045-4047)ttC>ttT	p.F1349F	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.F1349F	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1349	PKD 8.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGCTCCGCGTGAAGTTGTGTG	0.662000														18			12		0	0	1	0	0
ENTPD2	954	broad.mit.edu	37	9	139945407	139945407	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:139945407G>A	uc004ckw.2	-	4	775	c.721C>T	c.(721-723)Ctc>Ttc	p.L241F	ENTPD2_uc004ckv.2_5'Flank|ENTPD2_uc022bqb.1_5'Flank|ENTPD2_uc004ckx.2_Missense_Mutation_p.L241F	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 2 (ENTPD2), transcript variant 1, mRNA.	241						integral to membrane	ATP binding	p.F240_C242delFLC(2)		endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCATAGCAGAGGAAGCTGTGG	0.622000														4			20		0	0	1	0	0
SLC23A2	9962	broad.mit.edu	37	20	4848512	4848512	+	Silent	SNP	G	A	A	rs72552221	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:4848512G>A	uc002wlg.1	-	12	1635	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	SLC23A2_uc010zqr.1_Silent_p.F305F|SLC23A2_uc002wlh.1_Silent_p.F420F|SNORA31_uc021wag.1_5'Flank	NM_005116	NP_976072	Q9UGH3	S23A2_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 2 (SLC23A2), transcript variant 1, mRNA.	420				GIFVEGL -> YVPEKTS (in Ref. 10).	L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	p.F420F(2)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCCTTCCACGAAAATTCCCC	0.403000														29			21		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123844719	123844719	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:123844719C>T	uc001lfv.3	+	3	3064	c.2704C>T	c.(2704-2706)Caa>Taa	p.Q902*	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Nonsense_Mutation_p.Q902*|TACC2_uc010qtv.2_Nonsense_Mutation_p.Q902*	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	902						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)				ATCAGAACTTCAAAGTCAGCT	0.498000														37			8		0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26151895	26151895	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:26151895G>A	uc002rgu.2	-	7	2991	c.2334C>T	c.(2332-2334)tcC>tcT	p.S778S	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Silent_p.S776S	NM_002254	NP_002245	O14782	KIF3C_HUMAN	Homo sapiens kinesin family member 3C (KIF3C), mRNA.	778	Globular (Potential).				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGAGGCCAGGGAGGCATGTG	0.607000														33			109		0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084478	248084478	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248084478C>T	uc010pzc.2	+	0	159	c.159C>T	c.(157-159)ctC>ctT	p.L53L		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R52Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACCACCGGCTCCACACGCCCA	0.532000														92			41		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141072564	141072564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:141072564C>T	uc002tvj.1	-	82	13717	c.12745G>A	c.(12745-12747)Gaa>Aaa	p.E4249K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4249	EGF-like 11.				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)		TGGTTGACTTCACATCTTTCT	0.378000										TSP Lung(27;0.18)				31			16		0	0	1	0	0
YIPF4	84272	broad.mit.edu	37	2	32526553	32526553	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:32526553A>T	uc002rok.3	+	4	853	c.586A>T	c.(586-588)Aca>Tca	p.T196S		NM_032312	NP_115688	Q9BSR8	YIPF4_HUMAN	Homo sapiens Yip1 domain family, member 4 (YIPF4), mRNA.	196						endoplasmic reticulum|integral to membrane	protein binding			kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					AGTGGTGTCTACACTTATAAA	0.343000														93			11		0	0	1	0	0
CEND1	51286	broad.mit.edu	37	11	788242	788242	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:788242C>T	uc021qbp.1	-	0	335	c.335G>A	c.(334-336)gGg>gAg	p.G112E	CEND1_uc001lrh.1_Missense_Mutation_p.G112E	NM_016564	NP_057648	Q8N111	CEND_HUMAN	Homo sapiens cell cycle exit and neuronal differentiation 1 (CEND1), mRNA.	112						integral to membrane				prostate(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCTCGGCCCCCAGGCCCCCC	0.692000														24			6		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6694503	6694503	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:6694503C>T	uc002mfm.3	-	23	3155	c.3093G>A	c.(3091-3093)acG>acA	p.T1031T		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1031					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCCACTGCTCCGTTTCATCCA	0.617000														58			14		0	0	1	0	0
NIT1	4817	broad.mit.edu	37	1	161090352	161090352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:161090352C>T	uc001fxv.2	+	6	886	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C	PFDN2_uc001fxu.3_5'Flank|NIT1_uc001fxw.3_Intron|NIT1_uc010pka.2_Missense_Mutation_p.R246C|NIT1_uc001fxy.2_Missense_Mutation_p.R225C	NM_005600	NP_001172023	Q86X76	NIT1_HUMAN	Homo sapiens nitrilase 1 (NIT1), transcript variant 1, mRNA.	261	CN hydrolase.				nitrogen compound metabolic process	mitochondrion	nitrilase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ACAGTGTGGACGCCACCATGA	0.582000														55			104		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77415286	77415286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:77415286G>A	uc004ajl.1	-	16	2360	c.2122C>T	c.(2122-2124)Ctt>Ttt	p.L708F	TRPM6_uc004ajk.1_Missense_Mutation_p.L703F|TRPM6_uc022bib.1_Missense_Mutation_p.L703F|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	708					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GCCAGTTTAAGGCAGGTCGAA	0.507000														12			31		0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014765	75014766	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:75014765_75014766CC>TT	uc002ayp.4	-	1	795_796	c.673_674GG>AA	c.(673-675)ggg>AAg	p.G225K	CYP1A1_uc010bjy.3_Missense_Mutation_p.G225K|CYP1A1_uc010bju.3_5'UTR|CYP1A1_uc010bjv.3_Intron|CYP1A1_uc010bjw.3_Intron|CYP1A1_uc010bjx.3_Intron|CYP1A1_uc002ayq.4_Missense_Mutation_p.G225K|CYP1A1_uc010bjz.1_5'UTR	NM_000499	NP_000490	P04798	CP1A1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.	225					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	AACCACCTCCCCGAAATTATTA	0.495000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					88			13		0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767744	105767744	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:105767744C>T	uc004bbs.2	+	4	901	c.831C>T	c.(829-831)ccC>ccT	p.P277P		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	277	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AGAAGAAGCCCAGTAGTACAG	0.393000														16			10		0	0	1	0	0
RAB3A	5864	broad.mit.edu	37	19	18308374	18308374	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:18308374G>A	uc002nie.2	-	4	738	c.569C>T	c.(568-570)tCg>tTg	p.S190L		NM_002866	NP_002857	P20336	RAB3A_HUMAN	Homo sapiens RAB3A, member RAS oncogene family (RAB3A), mRNA.	190					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CGTGTCCAACGACTCGGACAT	0.607000														30			20		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55929392	55929392	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:55929392C>T	uc003pcs.3	-	23	2388	c.2156G>A	c.(2155-2157)gGa>gAa	p.G719E	COL21A1_uc010jzz.3_Missense_Mutation_p.G104E|COL21A1_uc011dxg.2_Missense_Mutation_p.G92E|COL21A1_uc011dxh.2_Missense_Mutation_p.G104E|COL21A1_uc003pcr.3_Missense_Mutation_p.E77K	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	719	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCCTGGAATTCCCTGTCTTCC	0.323000														4			3		0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60485528	60485528	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:60485528C>T	uc002ybn.2	+	8	1327	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L	CDH4_uc002ybr.2_Silent_p.L376L|CDH4_uc002ybp.2_Silent_p.L339L	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	413	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TCGCAAACCTCACGGTGATGG	0.542000														56			12		0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378024	19378024	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:19378024C>T	uc010tkp.2	+	0	431	c.431C>T	c.(430-432)cCc>cTc	p.P144L		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P144P(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCTGCCGTCCCTTGCTCTAT	0.448000														214			48		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42080619	42080619	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:42080619C>T	uc002yyq.1	-	1	574	c.122G>A	c.(121-123)gGg>gAg	p.G41E	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	41	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACCAGAGTCCCCGTGGTGCT	0.572000														118			30		0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824049	54824049	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:54824049C>T	uc002xxb.2	+	0	262	c.150C>T	c.(148-150)atC>atT	p.I50I		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	87					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CTCTGGGCATCGTCAGTCTGC	0.587000														49			94		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115891693	115891693	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:115891693C>T	uc003ibu.3	-	3	1793	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	372	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CAGAACTCATCCACAGACCGA	0.393000														41			4		0	0	1	0	0
BHMT	635	broad.mit.edu	37	5	78411594	78411594	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:78411594T>A	uc003kfu.4	+	1	143	c.38T>A	c.(37-39)aTc>aAc	p.I13N	BHMT_uc011cti.2_Missense_Mutation_p.I13N	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA.	13	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	TTTTAGGGCATCCTAGAACGT	0.403000														21			26		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121680940	121680940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:121680940G>A	uc003vjy.3	+	20	6103	c.5708G>A	c.(5707-5709)gGa>gAa	p.G1903E	PTPRZ1_uc011knt.2_Missense_Mutation_p.G1043E|PTPRZ1_uc003vjz.3_Missense_Mutation_p.G1036E	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1903	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCTGACATGGGAGTACCAGAG	0.547000														33			19		0	0	1	0	0
ATRIP	84126	broad.mit.edu	37	3	48501565	48501565	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:48501565C>T	uc003ctf.1	+	7	1144	c.1112C>T	c.(1111-1113)tCc>tTc	p.S371F	ATRIP_uc011bbj.1_Missense_Mutation_p.S244F|ATRIP_uc003ctg.1_Missense_Mutation_p.S371F|TREX1_uc010hjy.3_5'UTR	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	Homo sapiens ATR interacting protein (ATRIP), transcript variant 1, mRNA.	371					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGTCATTTTCCCTCTCAGCC	0.512000								Other conserved DNA damage response genes						25			47		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196801428	196801428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:196801428C>T	uc002utj.4	-	19	3268	c.3167G>A	c.(3166-3168)gGa>gAa	p.G1056E		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1056	Stem (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						TTCATTAAGTCCTTTAAGAAT	0.333000														36			12		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126371903	126371903	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:126371903C>T	uc003ifj.4	+	8	9732	c.9732C>T	c.(9730-9732)gaC>gaT	p.D3244D	FAT4_uc011cgp.2_Silent_p.D1542D|FAT4_uc003ifi.1_Silent_p.D722D	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3244	Cadherin 31.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTGTCATTGACCCTAACACAG	0.438000														37			37		0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54848860	54848860	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:54848860G>A	uc002qfj.3	-	4	820	c.763C>T	c.(763-765)Ctg>Ttg	p.L255L	LILRA4_uc002qfi.3_Silent_p.L189L	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	255	Ig-like C2-type 3.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TCCTTGTACAGAGTGTATCTG	0.662000														19			13		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57335874	57335874	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:57335874C>T	uc002qnu.2	-	0	501	c.150G>A	c.(148-150)cgG>cgA	p.R50R	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_5'UTR|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.R50R|PEG3_uc002qnv.2_Silent_p.R50R|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Silent_p.R50R	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	50	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGATTAGGTTCCGAAACCTCT	0.502000														75			16		0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100058899	100058899	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:100058899G>A	uc002tad.3	-	4	595	c.383C>T	c.(382-384)cCa>cTa	p.P128L	REV1_uc002tac.3_Missense_Mutation_p.P128L|REV1_uc002tae.1_Missense_Mutation_p.P107L	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	128	BRCT.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGCTGATATGGAATGTAGGA	0.443000								Direct reversal of damage						22			30		0	0	1	0	0
SPPL3	121665	broad.mit.edu	37	12	121206221	121206221	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:121206221G>A	uc001tzd.3	-	7	1165	c.680C>T	c.(679-681)cCc>cTc	p.P227L	SPPL3_uc001tzc.3_Missense_Mutation_p.P57L	NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN	Homo sapiens signal peptide peptidase-like 3 (SPPL3), mRNA.	228						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AACGTCAAGGGGATTGTCAGC	0.532000														136			41		0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145095470	145095470	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:145095470C>T	uc011lkw.2	+	3	869	c.767_splice	c.e3-1	p.V256_splice	SPATC1_uc011lkx.2_Splice_Site_p.V256_splice	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	256										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CATCACTAGTCCCACTCTCCA	0.617000														38			6		0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105883952	105883952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:105883952G>A	uc002tcq.3	-	11	2555	c.2471C>T	c.(2470-2472)cCc>cTc	p.P824L	TGFBRAP1_uc010fjc.3_Missense_Mutation_p.P593L|TGFBRAP1_uc002tcr.4_Missense_Mutation_p.P824L|LOC644617_uc002tcp.3_5'Flank	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	824					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTCACAAAAGGGATTTTGGCA	0.473000														54			21		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88678460	88678460	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:88678460G>A	uc002bme.2	-	9	1382	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F	NTRK3_uc002bmh.2_Missense_Mutation_p.S359F|NTRK3_uc002bmf.2_Missense_Mutation_p.S359F|NTRK3_uc021sua.1_Missense_Mutation_p.S359F|NTRK3_uc010upl.1_Missense_Mutation_p.S261F|NTRK3_uc010bnh.1_Missense_Mutation_p.S359F|NTRK3_uc002bmg.3_Missense_Mutation_p.S359F	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	359	Ig-like C2-type 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.S359S(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCAGCCCTCGGAAATCTCTCC	0.552000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				110			42		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121631883	121631883	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:121631883C>T	uc003eep.2	+	4	597	c.444C>T	c.(442-444)atC>atT	p.I148I	SLC15A2_uc011bjn.1_Silent_p.I117I	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	148					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)	TATCATTGATCGGCCTGAGTC	0.448000														218			124		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47882580	47882580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:47882580G>A	uc003tny.2	-	33	5459	c.5425C>T	c.(5425-5427)Ccg>Tcg	p.P1809S		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1809	PLAT.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AACCTGGCCGGAGCTCGGAAG	0.493000														74			17		0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96826964	96826964	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:96826964C>T	uc001kkb.3	-	3	576	c.481_splice	c.e3+1	p.A161_splice	CYP2C8_uc010qoa.2_Splice_Site_p.A91_splice|CYP2C8_uc010qoc.2_Splice_Site_p.A59_splice|CYP2C8_uc001kkc.3_Splice_Site|CYP2C8_uc010qob.2_Splice_Site_p.A75_splice|CYP2C8_uc021pwl.1_Splice_Site_p.A91_splice|CYP2C8_uc010qod.1_Splice_Site_p.A75_splice	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	161					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GAGTCACCCACCCTTGGTTTT	0.502000														100			31		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49433938	49433938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49433938G>A	uc001rta.4	-	30	7615	c.7615C>T	c.(7615-7617)Cct>Tct	p.P2539S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2539	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						ACTGCCTGAGGGAAAGTGAAA	0.637000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				31			8		0	0	1	0	0
PAPD4	167153	broad.mit.edu	37	5	78941001	78941001	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:78941001C>T	uc010jae.1	+	8	1225	c.807C>T	c.(805-807)ttC>ttT	p.F269F	PAPD4_uc003kgb.2_Silent_p.F269F|PAPD4_uc010jaf.1_Silent_p.F269F|PAPD4_uc003kga.2_Silent_p.F265F|PAPD4_uc003kfz.2_Silent_p.F269F	NM_001114393	NP_776158	Q6PIY7	GLD2_HUMAN	Homo sapiens PAP associated domain containing 4 (PAPD4), transcript variant 2, mRNA.	269					RNA polyadenylation|histone mRNA catabolic process|mRNA processing	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		TTGTGAAGTTCAGGGATAAAG	0.333000														7			7		0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118588247	118588247	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:118588247C>T	uc003pxx.4	+	3	768	c.567C>T	c.(565-567)atC>atT	p.I189I		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA.	189					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TCATCGGCATCGTTGTCTGCA	0.532000														84			75		0	0	1	0	0
ANXA11	311	broad.mit.edu	37	10	81928875	81928875	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:81928875T>C	uc010qlx.1	-	1	761	c.711A>G	c.(709-711)ggA>ggG	p.G237G	ANXA11_uc001kbq.1_Silent_p.G137G|ANXA11_uc001kbr.1_Silent_p.G137G|ANXA11_uc001kbs.1_Silent_p.G137G|ANXA11_uc001kbt.1_Silent_p.G137G|ANXA11_uc010qly.1_Silent_p.G104G|ANXA11_uc001kbu.1_Silent_p.G137G	NM_145869	NP_665876	P50995	ANX11_HUMAN	Homo sapiens annexin A11 (ANXA11), transcript variant c, mRNA.	137					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	S100 alpha binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GGGGCTGCTGTCCGGGGGGTG	0.692000														17			5		0	0	1	0	0
ADAD2	161931	broad.mit.edu	37	16	84228901	84228901	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:84228901G>A	uc002fhq.2	+	5	1093	c.979G>A	c.(979-981)Gag>Aag	p.E327K	ADAD2_uc002fhr.2_Splice_Site_p.E245_splice|AK123582_uc002fhs.1_5'UTR	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	245	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CTCCTGCACAGAGATCCCGCG	0.697000														5			6		0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2995836	2995836	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:2995836G>A	uc010vrb.2	-	0	455	c.455C>T	c.(454-456)tCc>tTc	p.S152F		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	152					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						ATAGAGGACGGATAGGACCCA	0.507000														56			10		0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124642454	124642454	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:124642454G>A	uc003ehq.2	-	2	593	c.554C>T	c.(553-555)tCg>tTg	p.S185L		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	185	EGF-like 1.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						AACACATAACGAATTATCTGC	0.383000														27			18		0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110880475	110880475	+	Silent	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:110880475A>G	uc003hzy.4	+	5	1400	c.948A>G	c.(946-948)aaA>aaG	p.K316K	EGF_uc011cfu.2_Intron|EGF_uc011cfv.2_Silent_p.K316K	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	316	EGF-like 1.				DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TAGAGCAGAAACTTTGCAAAT	0.473000														15			27		0	0	1	0	0
C2orf77	129881	broad.mit.edu	37	2	170518913	170518913	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:170518913C>T	uc002ufe.2	-	4	790	c.696G>A	c.(694-696)agG>agA	p.R232R		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	Homo sapiens chromosome 2 open reading frame 77 (C2orf77), mRNA.	232										endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|urinary_tract(2)	23						CATATTTTTTCCTTCTTTCCT	0.274000														13			26		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22294010	22294010	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:22294010G>A	uc001wbw.2	+	1	123	c.114G>A	c.(112-114)aaG>aaA	p.K38K	TRA_uc021rpa.1_Intron|TCRA_uc010ais.1_Non-coding_Transcript					SubName: Full=Alpha-chain C region; Flags: Fragment;																		TGGAGGGAAAGAACTGCACTC	0.453000														33			33		0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118351422	118351422	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:118351422C>T	uc001lco.1	+	2	207	c.189C>T	c.(187-189)aaC>aaT	p.N63N	PNLIPRP1_uc001lcp.2_Silent_p.N63N|PNLIPRP1_uc001lcn.3_Silent_p.N63N|PNLIPRP1_uc009xys.1_Non-coding_Transcript	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	63					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CCAATGAAAACCCAAACAACT	0.532000														88			18		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61778215	61778215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:61778215C>T	uc003xue.3	+	37	9209	c.8717C>T	c.(8716-8718)tCc>tTc	p.S2906F	CHD7_uc022aux.1_Missense_Mutation_p.S857F	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2906					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTCTACCCATCCATGTTTCTA	0.592000														63			22		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29609321	29609321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:29609321G>A	uc001bru.3	+	11	2131	c.2002G>A	c.(2002-2004)Gaa>Aaa	p.E668K	PTPRU_uc009vtq.3_Missense_Mutation_p.E668K|PTPRU_uc009vtr.3_Missense_Mutation_p.E668K|PTPRU_uc001brw.3_Missense_Mutation_p.E668K	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	668	Fibronectin type-III 4.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTTCGGGGCCGAACTGGCGGC	0.657000														7			44		0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133717	57133717	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:57133717C>T	uc002qnm.4	+	2	1300	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	ZNF71_uc021vcg.1_Silent_p.F354F	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	354						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P353P(1)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TGAAGCCGTTCGAGTGCAGCG	0.637000														21			24		0	0	1	0	0
SH3BGRL2	83699	broad.mit.edu	37	6	80406229	80406229	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:80406229G>A	uc003piz.1	+	2	438	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_031469	NP_113657	Q9UJC5	SH3L2_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein like 2 (SH3BGRL2), mRNA.	87						nucleus	SH3 domain binding			large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		TGAATCCAAGGAAAGCAACAC	0.313000														35			22		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144941023	144941023	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:144941023C>T	uc003zaa.1	-	0	6412	c.6399G>A	c.(6397-6399)gaG>gaA	p.E2133E		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2133						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)			GCTTCTTCTCCTCTGTCACGT	0.527000														150			38		0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66460725	66460725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:66460725C>T	uc001ojd.3	-	22	4858	c.4786G>A	c.(4786-4788)Gat>Aat	p.D1596N		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1596					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCGGCGGCATCGCGGTAGAAC	0.627000														54			16		0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7220546	7220546	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:7220546C>G	uc002gga.1	-	27	4469	c.4462G>C	c.(4462-4464)Gag>Cag	p.E1488Q	GPS2_uc002gfw.1_5'Flank|GPS2_uc002gfx.1_5'Flank|GPS2_uc002gfy.1_Non-coding_Transcript|GPS2_uc002gfz.1_5'UTR|GPS2_uc002ggb.1_Missense_Mutation_p.E1486Q	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	168					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GCCAGGGTCTCCGCCCCAGCA	0.642000														42			10		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158517028	158517028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:158517028G>A	uc003qqx.2	+	26	4229	c.4123G>A	c.(4123-4125)Ggc>Agc	p.G1375S	SYNJ2_uc003qqy.2_Missense_Mutation_p.G1138S|SYNJ2_uc003qqz.2_Missense_Mutation_p.G992S|SYNJ2_uc003qra.2_Missense_Mutation_p.G718S	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1375							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ACCTGCCGCGGGCACCGTCTT	0.612000														15			10		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21102879	21102879	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:21102879G>A	uc001iqi.3	-	22	2732	c.2335C>T	c.(2335-2337)Cat>Tat	p.H779Y	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	779					regulation of actin filament length		actin binding|structural constituent of muscle	p.H779Y(2)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATTGAAATATGATTTTGTGCT	0.388000														52			16		0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99445221	99445221	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:99445221G>A	uc003ury.1	+	4	532	c.429G>A	c.(427-429)aaG>aaA	p.K143K	CYP3A43_uc003urx.1_Silent_p.K143K|CYP3A43_uc003urz.1_Silent_p.K143K|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Intron|CYP3A43_uc003usb.1_5'UTR	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	143			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	TAAAATTCAAGGAAGTAAGAA	0.353000														65			51		0	0	1	0	0
FAM26F	441168	broad.mit.edu	37	6	116784568	116784568	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:116784568G>A	uc003pwv.3	+	2	743	c.648G>A	c.(646-648)caG>caA	p.Q216Q		NM_001010919	NP_001010919	Q5R3K3	FA26F_HUMAN	Homo sapiens family with sequence similarity 26, member F (FAM26F), mRNA.	216						integral to membrane				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		ATTTGGAACAGGAGCAGCAGA	0.378000														37			16		0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98743002	98743002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:98743002C>T	uc001kmv.3	+	0	1962	c.1855C>T	c.(1855-1857)Ccc>Tcc	p.P619S		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	619										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGAGATTTTCCCCAGCAGGGA	0.502000														64			28		0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38640746	38640746	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:38640746C>T	uc010cxb.3	-	5	1655	c.1491G>A	c.(1489-1491)caG>caA	p.Q497Q		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	497	SH2.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CTGGTCGACTCTGAGCAGACG	0.602000														25			44		0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1254578	1254578	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:1254578G>A	uc003jcb.1	-	14	3258	c.3200C>T	c.(3199-3201)tCc>tTc	p.S1067F	TERT_uc003jbz.1_Missense_Mutation_p.S263F|TERT_uc003jcc.1_Missense_Mutation_p.S1004F|TERT_uc003jca.1_Missense_Mutation_p.S1055F|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	1067	CTE.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CACGGCCTCGGAGGGCAGAGG	0.667000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					17			32		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41725530	41725530	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:41725530C>T	uc002yyq.1	-	4	1248	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	266	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCTGAAAGTTCCAGGGGCATG	0.577000														30			24		0	0	1	0	0
LYVE1	10894	broad.mit.edu	37	11	10582227	10582227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:10582227G>A	uc001miv.2	-	3	804	c.518C>T	c.(517-519)tCc>tTc	p.S173F	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|LYVE1_uc010rca.1_Missense_Mutation_p.S69F	NM_006691	NP_006682	Q9Y5Y7	LYVE1_HUMAN	Homo sapiens lymphatic vessel endothelial hyaluronan receptor 1 (LYVE1), mRNA.	173					anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		AGAGTAAGGGGATGCCACCGA	0.413000														87			23		0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761322	96761322	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:96761322C>T	uc003htr.4	+	0	84	c.21C>T	c.(19-21)tcC>tcT	p.S7S		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	7					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CCTTCATCTCCCGCGTGTTGA	0.567000														19			26		0	0	1	0	0
ZNF582	147948	broad.mit.edu	37	19	56895962	56895962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56895962C>T	uc002qmy.3	-	4	1210	c.917G>A	c.(916-918)cGa>cAa	p.R306Q	ZNF582_uc002qmz.1_Missense_Mutation_p.R275Q	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	Homo sapiens zinc finger protein 582 (ZNF582), mRNA.	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TGTGTGAGTTCGCTGATGTTC	0.403000														36			7		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118982318	118982318	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:118982318C>T	uc004bjn.3	+	4	2402	c.2021C>T	c.(2020-2022)cCt>cTt	p.P674L	PAPPA_uc011lxp.1_Missense_Mutation_p.P369L|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	674					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.A673E(2)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AAACCAGCGCCTGTTGCCCTC	0.577000														36			28		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48896993	48896993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:48896993G>A	uc002rwp.2	+	8	3337	c.3223G>A	c.(3223-3225)Gaa>Aaa	p.E1075K	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.E1075K|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.E1028K|STON1-GTF2A1L_uc002rws.2_Missense_Mutation_p.E371K|STON1-GTF2A1L_uc010yom.2_Missense_Mutation_p.E337K	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	1028					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGATGAGAATGAATTTCTAGG	0.383000														97			15		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41754451	41754451	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:41754451G>A	uc010ehj.3	+	12	1760	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K	AXL_uc010ehk.3_Missense_Mutation_p.E515K	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	524						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AGAGCTGAAGGAGAAGCTGCG	0.582000														54			10		0	0	1	0	0
SFXN3	81855	broad.mit.edu	37	10	102794526	102794526	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:102794526G>A	uc010qpx.2	+	1	247	c.87G>A	c.(85-87)cgG>cgA	p.R29R	SFXN3_uc001ksp.3_Silent_p.R29R	NM_030971	NP_112233	Q9BWM7	SFXN3_HUMAN	Homo sapiens sideroflexin 3 (SFXN3), mRNA.	29					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GCAGAGCCCGGCACTTTTTCA	0.522000														79			30		0	0	1	0	0
SIL1	64374	broad.mit.edu	37	5	138378348	138378348	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:138378348G>A	uc003ldo.3	-	5	620	c.414C>T	c.(412-414)ttC>ttT	p.F138F	SIL1_uc003ldp.3_Silent_p.F138F|SIL1_uc003ldq.1_5'UTR	NM_001037633	NP_071909	Q9H173	SIL1_HUMAN	Homo sapiens SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) (SIL1), transcript variant 1, mRNA.	138	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCCCCTCCTTGAATTTTGCCA	0.468000									Marinesco-Sjgren syndrome					36			84		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117907478	117907478	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:117907478C>T	uc001two.2	-	18	2803	c.2748G>A	c.(2746-2748)tgG>tgA	p.W916*		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	945	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.W977*(1)		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)					CTGCAGACTTCCAGAAATGTC	0.493000														19			3		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099963	168099963	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:168099963G>A	uc002udx.3	+	8	2150	c.2061G>A	c.(2059-2061)ggG>ggA	p.G687G	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.G512G|XIRP2_uc010fpq.3_Silent_p.G465G|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	512					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						TAACTGGGGGGGATGTCAAGA	0.418000														22			16		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128298085	128298085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:128298085C>T	uc003qbk.3	-	25	4190	c.3823G>A	c.(3823-3825)Gaa>Aaa	p.E1275K	PTPRK_uc010kfc.3_Missense_Mutation_p.E1282K|PTPRK_uc003qbj.3_Missense_Mutation_p.E1276K|PTPRK_uc011ebu.2_Missense_Mutation_p.E1298K	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1275	Tyrosine-protein phosphatase 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.N1275S(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AAGTCGACTTCGTTTAACATC	0.368000														12			6		0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98808836	98808836	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:98808836G>A	uc001kmw.2	-	13	1593	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	SLIT1_uc009xvh.1_Silent_p.L457L	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	447	LRRCT 2.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CCAGCCACTTGAGGTTACAGT	0.602000														22			44		0	0	1	0	0
SDHAF2	54949	broad.mit.edu	37	11	61205220	61205221	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:61205220_61205221CC>TT	uc001nrt.3	+	1	182_183	c.160_161CC>TT	c.(160-162)cca>TTa	p.P54L		NM_017841	NP_060311	Q9NX18	SDHF2_HUMAN	Homo sapiens succinate dehydrogenase complex assembly factor 2 (SDHAF2), nuclear gene encoding mitochondrial protein, mRNA.	54					mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						CCCTTTGCCTCCATGGCAGGAG	0.465000														118			32		0	0	1	0	0
CARD14	79092	broad.mit.edu	37	17	78169111	78169111	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:78169111G>A	uc002jxw.1	+	9	1672	c.1478G>A	c.(1477-1479)gGg>gAg	p.G493E	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Missense_Mutation_p.G493E|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.3_Missense_Mutation_p.G256E|CARD14_uc010dhu.1_Missense_Mutation_p.G291E	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	493					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GAGGACTTCGGGGAAGAACCC	0.652000														26			5		0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74352708	74352708	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:74352708G>A	uc003hhb.3	+	4	538	c.507G>A	c.(505-507)agG>agA	p.R169R		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	169	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGCCAGAAGGAACCCATTTG	0.403000														75			15		0	0	1	0	0
LMCD1	29995	broad.mit.edu	37	3	8609134	8609134	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:8609134C>T	uc003bqq.3	+	5	1062	c.948C>T	c.(946-948)ttC>ttT	p.F316F	LMCD1_uc011atd.2_Silent_p.F243F|LMCD1_uc011ate.2_Silent_p.F204F	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	Homo sapiens LIM and cysteine-rich domains 1 (LMCD1), mRNA.	316	LIM zinc-binding 2.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AGATAATATTCGCTGAGGACT	0.532000														173			101		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186671030	186671030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:186671030G>A	uc002upl.3	+	16	17264	c.17264G>A	c.(17263-17265)aGg>aAg	p.R5755K	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAAACGTGTAGGGATGAGGAA	0.368000														13			7		0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10508849	10508849	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:10508849G>A	uc001min.1	+	5	1249	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	AMPD3_uc010rbz.1_Missense_Mutation_p.E134K|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.E293K|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.E300K|AMPD3_uc009yfy.2_Missense_Mutation_p.E293K	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	293					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GATGTTAAACGAAATGTCCGA	0.498000														73			61		0	0	1	0	0
RARRES3	5920	broad.mit.edu	37	11	63313646	63313646	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:63313646G>A	uc001nxf.4	+	3	481	c.413G>A	c.(412-414)gGt>gAt	p.G138D		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 3 (RARRES3), mRNA.	138					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						GTTGAAGTTGGTGTGGCCACG	0.527000														148			112		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153085303	153085303	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:153085303A>C	uc011dcy.2	+	10	1556	c.1529A>C	c.(1528-1530)gAa>gCa	p.E510A	GRIA1_uc003lva.4_Missense_Mutation_p.E500A|GRIA1_uc003luy.4_Missense_Mutation_p.E500A|GRIA1_uc003luz.4_Missense_Mutation_p.E405A|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.E420A|GRIA1_uc011dcx.2_Missense_Mutation_p.E431A|GRIA1_uc011dcz.2_Missense_Mutation_p.E510A|GRIA1_uc010jia.1_Missense_Mutation_p.E480A	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	500					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.I495fs*19(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTGGTCCGGGAAGAAGTTATA	0.393000														16			35		0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455581	187455581	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:187455581G>A	uc003izd.1	-	1	333	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	105					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GGCCCATCAGGAACCCACTGA	0.532000														58			26		0	0	1	0	0
PPP3CA	5530	broad.mit.edu	37	4	101984452	101984452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:101984452G>A	uc011cen.1	-	8	1693	c.1018C>T	c.(1018-1020)Cca>Tca	p.P340S	PPP3CA_uc003hvu.2_Missense_Mutation_p.P340S|PPP3CA_uc010ilj.2_Intron|PPP3CA_uc003hvt.2_Missense_Mutation_p.P327S|PPP3CA_uc003hvs.2_Missense_Mutation_p.P273S|PPP3CA_uc010ilk.2_Missense_Mutation_p.P108S	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, alpha isozyme (PPP3CA), transcript variant 1, mRNA.	340					protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		AGCCAGTATGGATGAGGAGAA	0.363000														36			8		0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74289888	74289888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:74289888G>A	uc002jrd.1	-	3	602	c.422C>T	c.(421-423)cCc>cTc	p.P141L	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	141							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						AGTACCAGAGGGGACCTTGCT	0.562000														37			44		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901264	51901264	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:51901264C>T	uc002iua.2	+	0	1026	c.870C>T	c.(868-870)tcC>tcT	p.S290S	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	290	Kinesin-motor.				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			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						TGGTGGAGTCCATCTTCCGCA	0.567000														77			14		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	36917628	36917628	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:36917628G>A	uc022abv.1	-	18	2519	c.1809C>T	c.(1807-1809)tcC>tcT	p.S603S	ELMO1_uc003tfi.2_Silent_p.S123S|ELMO1_uc003tfj.2_Silent_p.S123S|ELMO1_uc011kbb.2_Non-coding_Transcript|ELMO1_uc011kbc.2_Silent_p.S507S|ELMO1_uc003tfk.2_Silent_p.S603S|ELMO1_uc010kxg.2_Silent_p.S603S	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	603	PH.				Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.S603F(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TGTCCTGCAAGGAATCGTGGG	0.488000														76			7		0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713478	138713478	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:138713478G>A	uc004cgr.4	-	10	3029	c.3029C>T	c.(3028-3030)aCt>aTt	p.T1010I	CAMSAP1_uc004cgq.4_Missense_Mutation_p.T900I|CAMSAP1_uc010nbg.3_Missense_Mutation_p.T732I	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	1010						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTCCCCAACAGTGTCCTCCAG	0.522000														14			6		0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139428493	139428493	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:139428493C>T	uc002tvi.3	-	1	794	c.794G>A	c.(793-795)tGa>tAa	p.*265*		NM_007226	NP_009157	O95156	NXPH2_HUMAN	Homo sapiens neurexophilin 2 (NXPH2), mRNA.	0					neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		GCAGGAAGATCAGCCAGAAGA	0.388000														33			10		0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128952171	128952171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:128952171C>T	uc001lju.1	-	1	1242	c.1201G>A	c.(1201-1203)Ggg>Agg	p.G401R	DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Intron|FAM196A_uc001ljv.1_Missense_Mutation_p.G401R|FAM196A_uc009yap.1_Intron	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.	401										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						GTGTCTTGCCCCGTCCGATAT	0.438000														30			8		0	0	1	0	0
ZNF429	353088	broad.mit.edu	37	19	21712583	21712583	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:21712583C>T	uc002nqd.1	+	1	264	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	ZNF429_uc010ecu.2_Silent_p.L43L	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	Homo sapiens zinc finger protein 429 (ZNF429), mRNA.	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CTTGGTCTTCCTGGGTGAGAA	0.373000														64			23		0	0	1	0	0
IGHE	3497	broad.mit.edu	37	14	106067065	106067065	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106067065C>T	uc001yrw.1	-	3	762	c.750G>A	c.(748-750)acG>acA	p.T250T	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Silent_p.T197T|epsilon_IgE_uc010axp.1_5'Flank|IGHE_uc001yru.2_5'Flank					RecName: Full=Ig epsilon chain C region;																		GACAGGTGATCGTGGGCGACT	0.637000														36			11		0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184764395	184764395	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:184764395C>T	uc001gra.3	-	13	2697	c.2503G>A	c.(2503-2505)Gaa>Aaa	p.E835K	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	835	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GCATCCCCTTCCTCGGTACAC	0.617000														99			38		0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12856863	12856863	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:12856863G>A	uc003bxk.2	+	7	1279	c.1230G>A	c.(1228-1230)ccG>ccA	p.P410P	CAND2_uc003bxj.2_Silent_p.P317P	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	410					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CACAGCCCCCGAAGGGATGGC	0.617000														48			18		0	0	1	0	0
EIF3B	8662	broad.mit.edu	37	7	2409304	2409304	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:2409304C>T	uc003slx.3	+	9	1684	c.1601C>T	c.(1600-1602)cCg>cTg	p.P534L	EIF3B_uc003sly.3_Missense_Mutation_p.P534L|EIF3B_uc003sma.3_Missense_Mutation_p.P262L	NM_003751	NP_003742	P55884	EIF3B_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA.	534					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GATAGGACTCCGAAAGGCACC	0.483000														88			55		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128150661	128150661	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:128150661C>T	uc011ebt.2	-	2	818	c.669G>A	c.(667-669)ctG>ctA	p.L223L	THEMIS_uc010kfa.3_Silent_p.L126L|THEMIS_uc021zfa.1_Silent_p.L223L|THEMIS_uc010kfb.3_Silent_p.L188L	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	223	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCTTGAGAATCAGGGTACCAT	0.373000														23			13		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136150	55136150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55136150C>T	uc010rif.2	+	0	791	c.791C>T	c.(790-792)gCt>gTt	p.A264V		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AAACGAAAAGCTTTCTACACC	0.433000														78			55		0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155205541	155205541	+	Missense_Mutation	SNP	G	A	A	rs80356768		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155205541G>A	uc001fjh.3	-	8	1485	c.1319C>T	c.(1318-1320)cCc>cTc	p.P440L	GBA_uc021pau.1_Intron|GBA_uc010pfx.2_Missense_Mutation_p.P391L|GBA_uc010pfw.2_Missense_Mutation_p.P327L|GBA_uc001fjl.3_Missense_Mutation_p.P440L|GBA_uc001fjk.3_Missense_Mutation_p.P440L|GBA_uc010pfy.2_Missense_Mutation_p.P353L	NM_000157	NP_001165282	P04062	GLCM_HUMAN	Homo sapiens glucosidase, beta, acid (GBA), transcript variant 1, mRNA.	440			P -> L (in GD1).		carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of MAP kinase activity|negative regulation of interleukin-6 production|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		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)		Alglucerase(DB00088)|Imiglucerase(DB00053)	TACAATGATGGGACTGTCGAC	0.552000									Gaucher disease type I					16			31		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13776741	13776741	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:13776741G>A	uc003jfd.2	-	54	9222	c.9180C>T	c.(9178-9180)ttC>ttT	p.F3060F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3060	AAA 4 (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)					GGCACCTGGGGAATTCTTTTT	0.453000									Kartagener syndrome					32			79		0	0	1	0	0
GCLC	2729	broad.mit.edu	37	6	53364879	53364879	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:53364879G>A	uc003pbw.2	-	14	2150	c.1666C>T	c.(1666-1668)Ctg>Ttg	p.L556L	GCLC_uc003pbv.1_Silent_p.L280L|GCLC_uc021zau.1_Silent_p.L518L	NM_001498	NP_001489	P48506	GSH1_HUMAN	Homo sapiens glutamate-cysteine ligase, catalytic subunit (GCLC), transcript variant 1, mRNA.	556					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	AGGTAGTTCAGAATACTACAT	0.368000														35			24		0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32203334	32203334	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:32203334G>A	uc001btn.3	-	18	3149	c.2795C>T	c.(2794-2796)cCc>cTc	p.P932L	BAI2_uc010ogn.2_5'Flank|BAI2_uc010ogo.2_Missense_Mutation_p.P574L|BAI2_uc010ogp.2_Missense_Mutation_p.P865L|BAI2_uc010ogq.2_Missense_Mutation_p.P932L|BAI2_uc001bto.3_Missense_Mutation_p.P932L|BAI2_uc001btp.1_5'Flank	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	932					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGGGACCGAGGGGGAGCCCGC	0.652000														5			15		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698906	17698906	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:17698906G>A	uc002rcl.1	-	0	801	c.777C>T	c.(775-777)gtC>gtT	p.V259V	RAD51AP2_uc010exn.1_Silent_p.V250V	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	259								p.S258T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAAACTGAGGGACACTTATTG	0.353000														84			19		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41306627	41306627	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:41306627G>A	uc002xkg.3	-	6	1216	c.1032C>T	c.(1030-1032)aaC>aaT	p.N344N	PTPRT_uc010ggj.3_Silent_p.N344N	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	344	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACAGCTTATAGTTGGGAGAGT	0.592000														96			23		0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21119817	21119817	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:21119817G>A	uc002kum.4	-	17	3027	c.2753C>T	c.(2752-2754)tCc>tTc	p.S918F	NPC1_uc010xaz.2_Missense_Mutation_p.S651F|NPC1_uc010xba.1_Missense_Mutation_p.S763F	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	918					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTGCACCAGGGAATCATTGTT	0.572000														22			24		0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68934444	68934444	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:68934444C>T	uc003hdt.1	-	6	696	c.647G>A	c.(646-648)gGg>gAg	p.G216E	LOC550112_uc003hdl.4_Intron|BC041902_uc011cak.2_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	216	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TGGCCATTCCCCTTCCATAGC	0.527000														21			19		0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82520636	82520636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:82520636G>A	uc002bgt.1	-	9	1134	c.965C>T	c.(964-966)tCt>tTt	p.S322F	EFTUD1_uc002bgu.1_Missense_Mutation_p.S271F	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	322					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TAATCCTAAAGAAGTCACTAT	0.433000														28			8		0	0	1	0	0
TPK1	27010	broad.mit.edu	37	7	144288569	144288569	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:144288569G>A	uc003weq.3	-	6	551	c.448C>T	c.(448-450)Cct>Tct	p.P150S	TPK1_uc003weo.3_Intron|TPK1_uc003wep.3_Non-coding_Transcript|TPK1_uc003wer.3_Intron|TPK1_uc003wes.3_Non-coding_Transcript	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	Homo sapiens thiamin pyrophosphokinase 1 (TPK1), transcript variant 1, mRNA.	150					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATTGGAAAAGGAGTGATGTGA	0.443000														68			12		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46832687	46832687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:46832687C>T	uc002peh.3	+	11	1695	c.1664C>T	c.(1663-1665)tCc>tTc	p.S555F	HIF3A_uc002peg.4_Missense_Mutation_p.S555F|HIF3A_uc021uwf.1_Missense_Mutation_p.S499F|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Missense_Mutation_p.S486F|HIF3A_uc002pel.3_Missense_Mutation_p.S553F|HIF3A_uc010xxz.2_Missense_Mutation_p.S504F	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	555	ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TCCAGCCCTTCCAGAGGGGAC	0.667000														15			3		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123556262	123556262	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:123556262C>T	uc010nqy.3	-	23	4395	c.4331G>A	c.(4330-4332)gGg>gAg	p.G1444E	ODZ1_uc011muj.2_Missense_Mutation_p.G1443E|ODZ1_uc004euj.3_Missense_Mutation_p.G1437E	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1437					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						GAAGAGCAGCCCGCTGTGGGA	0.532000														49			26		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411586	126411586	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:126411586C>T	uc003ifj.4	+	16	13609	c.13609C>T	c.(13609-13611)Ccc>Tcc	p.P4537S	FAT4_uc011cgp.2_Missense_Mutation_p.P2778S|FAT4_uc003ifi.1_Missense_Mutation_p.P2014S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4537					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGCCAAAAATCCCAAAGAGGA	0.532000														68			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179583222	179583222	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179583222C>T	uc021vsy.1	-	81	21104	c.20879G>A	c.(20878-20880)tGg>tAg	p.W6960*	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.W3621*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7887	Ig-like 51.						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)			GTCCTTTATCCAGCTCACTGA	0.428000														32			12		0	0	1	0	0
ELMOD1	55531	broad.mit.edu	37	11	107506373	107506373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:107506373C>T	uc010rvs.2	+	5	706	c.302C>T	c.(301-303)tCt>tTt	p.S101F	ELMOD1_uc001pjm.3_Missense_Mutation_p.S101F|ELMOD1_uc010rvt.2_Missense_Mutation_p.S95F	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA.	101					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CTGGGAATCTCTCTTCAGGCT	0.438000														38			22		0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5344709	5344709	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5344709G>A	uc001mao.1	-	0	874	c.819C>T	c.(817-819)atC>atT	p.I273I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTAACTCATGATAATGTGGA	0.378000														27			33		0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58491212	58491212	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58491212G>A	uc002qqw.3	-	6	1454	c.836C>T	c.(835-837)cCt>cTt	p.P279L	ZNF606_uc010yhp.2_Missense_Mutation_p.P189L	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TATTCTTGCAGGGTAAATAGG	0.323000														81			22		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996083	140996083	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:140996083C>T	uc004fbt.3	+	3	3217	c.2893C>T	c.(2893-2895)Ctg>Ttg	p.L965L	MAGEC1_uc010nsl.2_Silent_p.L32L|MAGEC1_uc022cfi.1_Silent_p.L624L	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	965	MAGE.						protein binding	p.L965L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCATTTCCCTGAGAGAAGT	0.498000										HNSCC(15;0.026)				56			78		0	0	1	0	0
SERPINE3	647174	broad.mit.edu	37	13	51921322	51921322	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:51921322C>T	uc001vfh.2	+	2	712	c.652C>T	c.(652-654)Ctc>Ttc	p.L218F	SERPINE3_uc010tgp.2_Missense_Mutation_p.L218F	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 (SERPINE3), mRNA.	218					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						TGCCTATGGCCTCGTCCTTCA	0.557000														18			8		0	0	1	0	0
CCL7	6354	broad.mit.edu	37	17	32597386	32597386	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:32597386G>A	uc002hhz.3	+	1	146	c.76_splice	c.e1+1	p.V26_splice	CCL7_uc010ctf.3_Splice_Site	NM_006273	NP_006264	P80098	CCL7_HUMAN	Homo sapiens chemokine (C-C motif) ligand 7 (CCL7), mRNA.	26					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GCTCAGCCAGGTAAGGTCCCT	0.552000														21			18		0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20665671	20665671	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20665671G>A	uc010tlb.2	+	0	177	c.177G>A	c.(175-177)agG>agA	p.R59R		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R59T(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTTGCCCCAGGGAGGGGCAGA	0.532000														27			25		0	0	1	0	0
OR51B6	390058	broad.mit.edu	37	11	5372845	5372845	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5372845A>G	uc010qzb.2	+	0	108	c.108A>G	c.(106-108)atA>atG	p.I36M	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATCTCCATACTTCTTGGCA	0.463000														33			26		0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7984079	7984079	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:7984079C>T	uc002gjy.1	-	4	808	c.547G>A	c.(547-549)Gga>Aga	p.G183R	BC046191_uc010cnq.2_Non-coding_Transcript	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	183	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						ATTGGGAATCCCGGAATATAG	0.602000										Multiple Myeloma(8;0.094)	OREG0024153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		95			29		0	0	1	0	0
ZNF705A	440077	broad.mit.edu	37	12	8329602	8329602	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:8329602C>T	uc001qud.1	+	4	398	c.326C>T	c.(325-327)tCt>tTt	p.S109F		NM_001004328	NP_001004328	Q6ZN79	Z705A_HUMAN	Homo sapiens zinc finger protein 705A (ZNF705A), mRNA.	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		AAGGAGAACTCTCTCATTCTG	0.373000														43			38		0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7749185	7749185	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:7749185G>A	uc001ijs.3	+	2	343	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	61	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AGGAGAATCGGAAGAAATGAT	0.368000														42			25		0	0	1	0	0
RGS14	10636	broad.mit.edu	37	5	176799013	176799013	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:176799013G>A	uc003mgh.3	+	14	1823	c.1641G>A	c.(1639-1641)caG>caA	p.Q547Q	RGS14_uc003mgf.3_Silent_p.Q546Q|RGS14_uc003mgi.3_Silent_p.Q317Q	NM_006480	NP_006471	O43566	RGS14_HUMAN	Homo sapiens regulator of G-protein signaling 14 (RGS14), mRNA.	546					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	PML body|cell junction|centrosome|dendritic spine|microtubule|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCACCACAGACCAAATCAG	0.622000														67			109		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325038	150325038	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:150325038C>T	uc022apv.1	-	2	1338	c.858G>A	c.(856-858)atG>atA	p.M286I	GIMAP6_uc003whn.3_Missense_Mutation_p.M216I|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	216							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAACTTTCTCCATGAGCTCTC	0.527000														127			45		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921327	24921327	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:24921327C>T	uc001ywo.3	+	0	787	c.313C>T	c.(313-315)Ccc>Tcc	p.P105S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	105					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TGCTCGGAACCCCCCGAGGTT	0.677000														42			9		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632156	156632156	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:156632156C>T	uc003iov.3	+	6	1375	c.839C>T	c.(838-840)tCg>tTg	p.S280L	GUCY1A3_uc003iou.2_Missense_Mutation_p.S280L|GUCY1A3_uc010iqc.2_Missense_Mutation_p.S280L|GUCY1A3_uc010iqd.3_Missense_Mutation_p.S279L|GUCY1A3_uc003iow.3_Missense_Mutation_p.S280L|GUCY1A3_uc003iox.3_Missense_Mutation_p.S280L|GUCY1A3_uc010iqe.3_Missense_Mutation_p.S45L|GUCY1A3_uc003ioy.3_Missense_Mutation_p.S280L|GUCY1A3_uc003ioz.3_Missense_Mutation_p.S45L|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.S280L	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	280					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.S280W(2)|p.S280S(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ATTCCCACATCGCTATTCTGC	0.463000														84			16		0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37427646	37427646	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:37427646G>A	uc001uvw.3	-	5	1513	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	SMAD9_uc001uvx.3_Silent_p.F353F|SMAD9_uc010tep.2_Silent_p.F183F	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA.	390	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GGAGCTGAGCGAAGAGCTGGT	0.532000														32			12		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74623558	74623558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:74623558G>A	uc002axo.3	+	14	2086	c.1692G>A	c.(1690-1692)atG>atA	p.M564I	CCDC33_uc002axp.3_Missense_Mutation_p.M386I|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Missense_Mutation_p.M157I|CCDC33_uc002axr.3_Missense_Mutation_p.M157I	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	767							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCGAGAAGATGGAGCGGGTGC	0.652000														55			16		0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86389397	86389397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:86389397G>A	uc003ydk.2	+	5	736	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	CA2_uc022axe.1_5'Flank	NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	186					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CCTCCTTCCTGAATCCTTGGA	0.512000														69			109		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178419001	178419002	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:178419001_178419002GG>AA	uc003mjr.3	-	1	766_767	c.587_588CC>TT	c.(586-588)ccc>cTT	p.P196L	GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	196					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGTAGGAGTCGGGTGGCACCAC	0.624000														38			5		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183675765	183675765	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:183675765C>T	uc003ivd.1	+	20	4320	c.4245C>T	c.(4243-4245)gtC>gtT	p.V1415V	ODZ3_uc003ive.1_Silent_p.V828V	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1415					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ACAGTGGGGTCCTGTACATTA	0.502000														30			11		0	0	1	0	0
FOLR3	2352	broad.mit.edu	37	11	71850171	71850171	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:71850171A>G	uc001ory.1	+	2	511	c.461A>G	c.(460-462)aAc>aGc	p.N154S	FOLR3_uc001orx.1_Missense_Mutation_p.N111S			P41439	FOLR3_HUMAN	Homo sapiens folate receptor 3 (gamma) (FOLR3), mRNA.	110					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	TGCTCACCCAACCTGGGGCCC	0.582000														35			9		0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216226319	216226319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:216226319G>A	uc002vfa.3	-	45	7659	c.7393C>T	c.(7393-7395)Cct>Tct	p.P2465S	FN1_uc002vfc.3_Missense_Mutation_p.P2228S|FN1_uc002vfe.3_Missense_Mutation_p.P2343S|FN1_uc002vff.3_Missense_Mutation_p.P2318S|FN1_uc002vfg.3_Missense_Mutation_p.P2284S|FN1_uc002vfh.3_Missense_Mutation_p.P2164S|FN1_uc002vfi.3_Missense_Mutation_p.P2434S|FN1_uc002vfj.3_Missense_Mutation_p.P2255S|FN1_uc002vfb.3_Missense_Mutation_p.P2253S|FN1_uc002vez.3_Missense_Mutation_p.P628S|FN1_uc010zjp.2_Missense_Mutation_p.P1002S	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	2374					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACATCTAAAGGCATGAAGCAC	0.383000														82			36		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26789788	26789788	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:26789788C>T	uc001iss.3	+	4	522	c.201C>T	c.(199-201)ctC>ctT	p.L67L	APBB1IP_uc001isr.3_Silent_p.L67L|APBB1IP_uc009xks.1_Silent_p.L67L	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	67					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TAGATGCTCTCATGGCAGATC	0.413000														62			13		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17053522	17053522	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:17053522C>T	uc011awc.2	+	2	2756	c.2660C>T	c.(2659-2661)tCt>tTt	p.S887F	PLCL2_uc011awd.2_Missense_Mutation_p.S769F	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	895					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AGGGGCCTTTCTGTGAGAAAA	0.463000														59			25		0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24801472	24801472	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:24801472C>T	uc002dmm.3	+	5	1623	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S	TNRC6A_uc010bxs.3_Silent_p.S250S|TNRC6A_uc010vcc.1_Silent_p.S250S|TNRC6A_uc002dmn.3_Silent_p.S250S|TNRC6A_uc002dmo.3_Silent_p.S250S	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	503	Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATGGCACTTCCCTTTCTCACC	0.478000														29			45		0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242814492	242814492	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:242814492C>T	uc010fzu.1	+	1	808	c.785C>T	c.(784-786)cCg>cTg	p.P262L		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	262						integral to membrane											AAAGGCTTCCCGGTGGCCATT	0.652000														37			10		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110906	81110906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:81110906C>T	uc001szg.2	+	0	199	c.64C>T	c.(64-66)Ccg>Tcg	p.P22S		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	22					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CTCCTGCATACCGTCCCCCGA	0.617000														36			13		0	0	1	0	0
TMEM139	135932	broad.mit.edu	37	7	142983263	142983263	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142983263G>A	uc003wcl.3	+	3	467	c.213G>A	c.(211-213)caG>caA	p.Q71Q	CASP2_uc003wco.3_5'Flank|CASP2_uc003wcp.3_5'Flank|CASP2_uc011kta.2_5'Flank|TMEM139_uc022aoc.1_Silent_p.Q71Q|TMEM139_uc010lov.3_Silent_p.Q71Q|TMEM139_uc003wck.4_Silent_p.Q71Q|TMEM139_uc003wcn.3_Intron|TMEM139_uc022aod.1_Intron|TMEM139_uc003wcm.3_Silent_p.Q71Q	NM_001242774	NP_001229703	Q8IV31	TM139_HUMAN	Homo sapiens transmembrane protein 139 (TMEM139), transcript variant 3, mRNA.	71						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					AATCAATGCAGACTGAGAGCC	0.537000														45			38		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48218400	48218400	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:48218400G>A	uc002eff.1	-	21	3559	c.3209C>T	c.(3208-3210)tCc>tTc	p.S1070F	ABCC11_uc002efg.1_Missense_Mutation_p.S1070F|ABCC11_uc002efh.1_Missense_Mutation_p.S1070F|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	1070	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GGGGGTGGAGGAAATGCCAAA	0.532000														2			39		0	0	1	0	0
PRCP	5547	broad.mit.edu	37	11	82536019	82536019	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:82536019G>A	uc001ozs.3	-	8	1533	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	PRCP_uc001ozr.3_Missense_Mutation_p.R495C	NM_005040	NP_005031	P42785	PCP_HUMAN	Homo sapiens prolylcarboxypeptidase (angiotensinase C) (PRCP), transcript variant 1, mRNA.	474					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TCCAAGGAGCGGGCTAACAGC	0.458000														37			13		0	0	1	0	0
HIST1H4F	8361	broad.mit.edu	37	6	26240828	26240828	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:26240828C>T	uc003nhe.1	+	0	175	c.175C>T	c.(175-177)Ctt>Ttt	p.L59F		NM_003540	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4f (HIST1H4F), mRNA.	59					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CCGCGGTGTTCTTAAGGTGTT	0.572000														25			12		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105161027	105161027	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:105161027C>T	uc003yls.3	+	22	3580	c.3339C>T	c.(3337-3339)atC>atT	p.I1113I	RIMS2_uc003ylp.3_Intron|RIMS2_uc003ylw.2_Silent_p.I1102I|RIMS2_uc003ylq.3_Intron|RIMS2_uc003ylr.3_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	541					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGTAGCTATCGTTGGTCTGT	0.483000										HNSCC(12;0.0054)				57			19		0	0	1	0	0
DEFA4	1669	broad.mit.edu	37	8	6794401	6794401	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:6794401G>A	uc003wqu.1	-	1	72	c.21C>T	c.(19-21)ctC>ctT	p.L7L		NM_001925	NP_001916	P12838	DEF4_HUMAN	Homo sapiens defensin, alpha 4, corticostatin (DEFA4), mRNA.	7					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GAATAGCAGCGAGGAGGGCGA	0.617000														14			13		0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4646617	4646617	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:4646617C>T	uc002fyu.2	+	4	1194	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	ZMYND15_uc002fyv.2_Silent_p.F388F|ZMYND15_uc002fyt.2_Silent_p.F388F	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	388							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GTGAAACCTTCAACAAAGAGG	0.557000														47			116		0	0	1	0	0
SCAMP5	192683	broad.mit.edu	37	15	75305141	75305141	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:75305141G>A	uc002azn.2	+	2	318	c.131G>A	c.(130-132)tGg>tAg	p.W44*	SCAMP5_uc002azl.2_Nonsense_Mutation_p.W44*|SCAMP5_uc002azm.2_Nonsense_Mutation_p.W44*|SCAMP5_uc002azk.2_Nonsense_Mutation_p.W44*|SCAMP5_uc010uly.2_Silent_p.L25L	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA.	44					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						TACTACCTCTGGATGTGTGAG	0.607000														25			22		0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40350962	40350962	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:40350962C>T	uc003gva.1	+	3	445	c.429C>T	c.(427-429)atC>atT	p.I143I		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	143					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	ATGGGCTGATCACCTGGGATG	0.507000														31			26		0	0	1	0	0
COL8A2	1296	broad.mit.edu	37	1	36564462	36564462	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:36564462G>A	uc001bzv.2	-	1	827	c.820C>T	c.(820-822)Cct>Tct	p.P274S	COL8A2_uc001bzw.2_Missense_Mutation_p.P209S	NM_005202	NP_005193	P25067	CO8A2_HUMAN	Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.	274	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACTCCAGGAGGTCCTTTTGGG	0.692000														1			14		0	0	1	0	0
HIST1H2BI	8346	broad.mit.edu	37	6	26273236	26273236	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:26273236G>A	uc003nhk.3	+	0	33	c.33G>A	c.(31-33)ccG>ccA	p.P11P	HIST1H3G_uc003nhi.3_5'Flank	NM_003525	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bi (HIST1H2BI), mRNA.	11					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CTCCCGCCCCGAAGAAGGGCT	0.557000														135			32		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166245525	166245525	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:166245525C>T	uc002udc.3	+	26	5499	c.5209C>T	c.(5209-5211)Cac>Tac	p.H1737Y	SCN2A_uc002udd.3_Missense_Mutation_p.H1737Y|SCN2A_uc002ude.3_Missense_Mutation_p.H1737Y|SCN2A_uc021vry.1_Missense_Mutation_p.H237Y	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1737					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGACAAAGATCACCCTGGAAG	0.453000														117			57		0	0	1	0	0
KLRD1	3824	broad.mit.edu	37	12	10462062	10462062	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:10462062G>A	uc009zhi.3	+	1	343	c.83G>A	c.(82-84)gGa>gAa	p.G28E	KLRD1_uc001qxw.4_Missense_Mutation_p.G28E|KLRD1_uc001qxx.4_Missense_Mutation_p.G28E|KLRD1_uc001qxy.4_Intron|KLRD1_uc009zhh.3_Missense_Mutation_p.G28E|KLRD1_uc001qxz.4_Missense_Mutation_p.G28E			Q13241	KLRD1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily D, member 1 (KLRD1), transcript variant 1, mRNA.	28					cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity	p.G28E(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						TCTACGTTGGGAATTTTGTTG	0.348000														57			16		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176833456	176833456	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:176833456G>A	uc001glc.3	-	22	4061	c.3849C>T	c.(3847-3849)atC>atT	p.I1283I	ASTN1_uc001glb.1_Intron	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1291					cell migration|neuron cell-cell adhesion	integral to membrane				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						CGTTGTAGGGGATACTCAGGG	0.572000														131			76		0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38955903	38955903	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:38955903G>A	uc002hvh.1	-	0	309	c.243C>T	c.(241-243)ctC>ctT	p.L81L		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	81	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TTCCAGAGAGGAGTCCCCCTT	0.537000														72			21		0	0	1	0	0
ZNF223	7766	broad.mit.edu	37	19	44570477	44570477	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:44570477C>T	uc002oyf.1	+	4	749	c.496C>T	c.(496-498)Cct>Tct	p.P166S	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	Homo sapiens zinc finger protein 223 (ZNF223), mRNA.	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				CTTTGATCTTCCTCAGCAAAT	0.433000														114			28		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52603882	52603882	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:52603882C>T	uc001jjj.3	-	4	288	c.100_splice	c.e4-1	p.E34_splice	A1CF_uc010qho.2_Splice_Site_p.E42_splice|A1CF_uc010qhn.2_Splice_Site_p.E42_splice|A1CF_uc009xov.3_Splice_Site_p.E34_splice|A1CF_uc001jji.3_Splice_Site_p.E34_splice|A1CF_uc001jjh.3_Splice_Site_p.E42_splice|A1CF_uc001jjk.1_Splice_Site_p.E34_splice	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	34					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.E42K(2)|p.E34K(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TGTCCATTTTCCTGCAAATCC	0.413000														33			15		0	0	1	0	0
TSG101	7251	broad.mit.edu	37	11	18528467	18528467	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:18528467G>A	uc001mor.3	-	5	625	c.485C>T	c.(484-486)tCc>tTc	p.S162F	TSG101_uc001mos.2_Missense_Mutation_p.S110F|TSG101_uc009yhs.2_Non-coding_Transcript	NM_006292	NP_006283	Q99816	TS101_HUMAN	Homo sapiens tumor susceptibility gene 101 (TSG101), mRNA.	162	Interaction with CEP55.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	DNA binding|calcium-dependent protein binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						TGGCATGTAGGAAGCTAAAAA	0.368000														53			10		0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5247821	5247821	+	Missense_Mutation	SNP	G	A	A	rs63750556		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5247821G>A	uc001mae.1	-	1	351	c.301C>T	c.(301-303)Cct>Tct	p.P101S	CoTC_ribozyme_uc021qcu.1_5'Flank	NM_000518	NP_000509	P68871	HBB_HUMAN	Homo sapiens hemoglobin, beta (HBB), mRNA.	101			P -> L (in Brigham; O(2) affinity up).|P -> R (in New Mexico).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	AAGTTCTCAGGATCCACGTGC	0.502000									Sickle Cell Trait					56			8		0	0	1	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72337086	72337086	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:72337086G>A	uc010lal.1	-	0		c.2570C>T								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		ATTGTGGAGAGGGGGAATGAG	0.527000														63			10		0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120301896	120301896	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:120301896C>T	uc001eid.3	-	3	783	c.695G>A	c.(694-696)gGa>gAa	p.G232E	HMGCS2_uc010oxj.2_Missense_Mutation_p.G190E|HMGCS2_uc021osw.1_5'UTR|HMGCS2_uc021osx.1_Intron	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	232					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	p.G232G(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CATATGGGTTCCCCTCAGCCC	0.478000														170			270		0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49658204	49658204	+	Silent	SNP	C	T	T	rs74666147	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:49658204C>T	uc002pmv.3	-	0	478	c.291G>A	c.(289-291)aaG>aaA	p.K97K	TRPM4_uc002pmw.3_5'Flank|TRPM4_uc010emu.3_5'Flank|TRPM4_uc010yak.2_5'Flank|TRPM4_uc002pmx.3_5'Flank|TRPM4_uc010emv.3_5'Flank|TRPM4_uc010yal.2_5'Flank	NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	97					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GCCCATATTCCTTGGAGACAT	0.532000														59			51		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762623	130762623	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:130762623G>A	uc003qcb.3	+	1	3434	c.1056G>A	c.(1054-1056)ggG>ggA	p.G352G	TMEM200A_uc003qca.3_Silent_p.G352G|TMEM200A_uc010kfh.3_Silent_p.G352G|TMEM200A_uc010kfi.3_Silent_p.G352G|TMEM200A_uc021zfg.1_Silent_p.G352G	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	352						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		ATTCCATTGGGGAGTCGTTGT	0.517000														18			15		0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107978307	107978307	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:107978307C>T	uc004eoc.2	-	0	1301	c.1268G>A	c.(1267-1269)aGg>aAg	p.R423K		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	423						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AACCGCTCTCCTTGACCTGCG	0.637000														24			21		0	0	1	0	0
PIGU	128869	broad.mit.edu	37	20	33222506	33222506	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:33222506G>A	uc002xas.3	-	5	642	c.442C>T	c.(442-444)Cct>Tct	p.P148S	PIGU_uc010zul.2_Missense_Mutation_p.P148S|PIGU_uc002xat.3_Missense_Mutation_p.P128S|PIGU_uc010gev.1_Non-coding_Transcript	NM_080476	NP_536724	Q9H490	PIGU_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class U (PIGU), mRNA.	148					C-terminal protein lipidation|attachment of GPI anchor to protein|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						ATCGTGTAAGGATTTAAGAGA	0.413000														28			12		0	0	1	0	0
POLH	5429	broad.mit.edu	37	6	43582291	43582291	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:43582291T>C	uc003ovq.4	+	10	2443	c.2139T>C	c.(2137-2139)caT>caC	p.H713H	POLH_uc010jyu.2_Silent_p.H589H|POLH_uc011dvl.1_Non-coding_Transcript|POLH_uc003ovr.3_Silent_p.H614H	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	Homo sapiens polymerase (DNA directed), eta (POLH), mRNA.	713					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CATTAACACATTAGTGCTGCC	0.388000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum					122			28		0	0	1	0	0
CAMK2A	815	broad.mit.edu	37	5	149631319	149631319	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:149631319G>A	uc003lru.2	-	8	902	c.687C>T	c.(685-687)gcC>gcT	p.A229A	CAMK2A_uc003lrt.2_Silent_p.A229A|CAMK2A_uc010jhe.2_Silent_p.A209A|CAMK2A_uc010jhf.1_Missense_Mutation_p.P67L	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 2, mRNA.	229	Protein kinase.				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCACATCATAGGCGCCGGCTT	0.587000														13			5		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826630	46826630	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:46826630G>A	uc003oyo.3	-	16	3299	c.3010C>T	c.(3010-3012)Cct>Tct	p.P1004S	GPR116_uc011dwj.1_Missense_Mutation_p.P559S|GPR116_uc011dwk.1_Missense_Mutation_p.P433S|GPR116_uc003oyp.3_Missense_Mutation_p.P862S|GPR116_uc003oyq.3_Missense_Mutation_p.P1004S|GPR116_uc010jzi.1_Missense_Mutation_p.P676S	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1004					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P1004L(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGAGAACTAGGATCTGGGGAG	0.488000														70			12		0	0	1	0	0
REEP1	65055	broad.mit.edu	37	2	86479188	86479188	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:86479188G>A	uc021vke.1	-	4	337	c.330C>T	c.(328-330)atC>atT	p.I110I	REEP1_uc002srh.4_Silent_p.I103I|REEP1_uc010yth.2_Silent_p.I76I|REEP1_uc010yti.2_Intron|REEP1_uc010ytg.2_Silent_p.I82I	NM_001164730	NP_001158202	Q9H902	REEP1_HUMAN	Homo sapiens receptor accessory protein 1 (REEP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	103					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding	p.I103I(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GACAATCATCGATTTCCTGTC	0.522000														37			42		0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364668	5364668	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5364668G>A	uc001map.1	-	0	87	c.87C>T	c.(85-87)ttC>ttT	p.F29F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Silent_p.F29F	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATGAACAAGAAAAATACGG	0.448000														19			16		0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4842823	4842823	+	Missense_Mutation	SNP	C	T	T	rs113742153	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:4842823C>T	uc010qyn.2	+	0	208	c.208C>T	c.(208-210)Cat>Tat	p.H70Y		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACGGAGCCTCCATAAGCCTAT	0.473000														101			90		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36333307	36333307	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:36333307C>T	uc002oby.3	-	17	2636	c.2480G>A	c.(2479-2481)cGa>cAa	p.R827Q	NPHS1_uc010eem.1_5'Flank	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	827	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				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)			GAGCAGCCGTCGTGCTGGAGG	0.592000														61			40		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497620	1497620	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:1497620C>T	uc003wpl.3	+	1	858	c.761C>T	c.(760-762)cCc>cTc	p.P254L	DLGAP2_uc003wpm.3_Missense_Mutation_p.P254L	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	333					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CTGCAGAGCCCCTTCGGGGAC	0.662000														85			19		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729521	196729521	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:196729521G>A	uc002utj.4	-	40	6959	c.6858C>T	c.(6856-6858)atC>atT	p.I2286I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2286					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						CCACATCTGCGATTTCTCTGT	0.378000														67			29		0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42813676	42813676	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:42813676G>A	uc010goq.3	+	7	1110	c.764G>A	c.(763-765)gGa>gAa	p.G255E	MX1_uc002yzh.3_Missense_Mutation_p.G255E|MX1_uc002yzi.3_Missense_Mutation_p.G255E	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	255					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GTGGACAAAGGAACTGAAGAC	0.542000														81			21		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8471043	8471043	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:8471043C>T	uc003zkk.3	-	30	4199	c.3456G>A	c.(3454-3456)ggG>ggA	p.G1152G	PTPRD_uc003zkp.3_Silent_p.G741G|PTPRD_uc003zkq.3_Silent_p.G741G|PTPRD_uc003zkr.3_Silent_p.G736G|PTPRD_uc003zks.3_Silent_p.G731G|PTPRD_uc022bdj.1_Silent_p.G738G	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1152					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1151H(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGATAAATTTCCCGCGAGATT	0.368000										TSP Lung(15;0.13)				28			18		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039120	31039120	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:31039120C>T	uc002nsu.1	+	3	2732	c.2594C>T	c.(2593-2595)tCc>tTc	p.S865F	ZNF536_uc010edd.1_Missense_Mutation_p.S865F	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	865					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.L864I(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGGTTCTCTCCTCTGGAGAT	0.582000														36			44		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653489	159653489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:159653489G>A	uc010kjv.3	+	10	2145	c.1945G>A	c.(1945-1947)Gaa>Aaa	p.E649K	FNDC1_uc010kjw.1_Missense_Mutation_p.E534K	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	649						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGACTCAGACGAAGATGAGCG	0.687000														17			9		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233518193	233518193	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:233518193C>T	uc001hvt.4	+	9	3108	c.2847C>T	c.(2845-2847)tcC>tcT	p.S949S	KIAA1804_uc001hvu.4_Silent_p.S395S	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	949					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GCCCTGCCTCCCTGAGAAGCC	0.612000														66			27		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36069761	36069761	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:36069761C>T	uc003gsq.2	-	32	5221	c.4883G>A	c.(4882-4884)cGa>cAa	p.R1628Q	ARAP2_uc003gso.3_Intron	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1628					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CCGATGTTTTCGGGGTCGATT	0.507000														46			25		0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20699541	20699541	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:20699541A>G	uc009yid.3	+	2	356	c.203A>G	c.(202-204)aAc>aGc	p.N68S	NELL1_uc010rdp.2_5'UTR|NELL1_uc001mqe.3_Missense_Mutation_p.N40S|NELL1_uc001mqf.3_Missense_Mutation_p.N40S|NELL1_uc010rdo.2_Missense_Mutation_p.N40S	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	40					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						GACCTTGTGAACACCACCCTT	0.488000														43			51		0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177041242	177041242	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:177041242C>T	uc003iuj.3	+	4	907	c.604C>T	c.(604-606)Cat>Tat	p.H202Y	WDR17_uc003ium.4_Missense_Mutation_p.H178Y|WDR17_uc003iul.2_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	202										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)		ATCAATTTTTCATCCAGGTAA	0.338000														86			15		0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46312248	46312248	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:46312248T>C	uc011bzc.1	-	4	748	c.336A>G	c.(334-336)ccA>ccG	p.P112P	GABRA2_uc003gxc.3_Silent_p.P167P|GABRA2_uc010igc.2_Silent_p.P167P|GABRA2_uc003gxe.3_Silent_p.P167P			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	167					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCAAGTGCATTGGGCATTCAG	0.368000														21			33		0	0	1	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197081	26197082	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:26197081_26197082CC>TT	uc003ngv.3	-	1	794_795	c.397_398GG>AA	c.(397-399)ggg>AAg	p.G133K	HIST1H3D_uc021ymt.1_Missense_Mutation_p.G133K|HIST1H2BF_uc003ngx.3_5'Flank	NM_003530	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3d (HIST1H3D), mRNA.	133					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding	p.G133G(1)|p.R132L(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CGCCCTCTCCCCACGAATGCGG	0.500000														54			15		0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510314	5510314	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5510314T>C	uc010qzg.2	+	0	400	c.378T>C	c.(376-378)taT>taC	p.Y126Y	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGATAGGTATGTGGCTATCT	0.453000														115			38		0	0	1	0	0
PDLIM1	9124	broad.mit.edu	37	10	97031472	97031472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:97031472C>T	uc001kkh.3	-	1	275	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K		NM_020992	NP_066272	O00151	PDLI1_HUMAN	Homo sapiens PDZ and LIM domain 1 (PDLIM1), mRNA.	56	PDZ.				response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CTAGTATTTTCCCCATCAATG	0.448000														74			45		0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891644	6891644	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:6891644G>A	uc001meu.1	+	0	659	c.659G>A	c.(658-660)gGg>gAg	p.G220E		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGCTAAAGGGAAGAATAAA	0.433000														123			35		0	0	1	0	0
TMEM72	643236	broad.mit.edu	37	10	45430455	45430456	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:45430455_45430456CC>TT	uc001jbn.2	+	4	898_899	c.701_702CC>TT	c.(700-702)tcc>tTT	p.S234F	TMEM72-AS1_uc001jbk.1_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.S116F	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN	Homo sapiens transmembrane protein 72 (TMEM72), mRNA.	234						integral to membrane				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						ATAGTCCCCTCCCTCGCCGAAG	0.609000														80			24		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17722638	17722638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:17722638C>T	uc021uqk.1	-	40	4624	c.4582G>A	c.(4582-4584)Gaa>Aaa	p.E1528K		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1529					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						ACAGAGACTTCACCCACAGGG	0.577000														51			19		0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86890731	86890731	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:86890731C>T	uc004efa.2	+	8	2063	c.1881C>T	c.(1879-1881)gcC>gcT	p.A627A	KLHL4_uc004efb.2_Silent_p.A627A	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	627						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GGCATGATGCCCCTGCTTCCA	0.413000														13			15		0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23927174	23927174	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:23927174G>T	uc002nrk.4	-	3	1320	c.1178C>A	c.(1177-1179)cCc>cAc	p.P393H	ZNF681_uc002nrl.4_Missense_Mutation_p.P324H|ZNF681_uc002nrj.4_Missense_Mutation_p.P324H	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACATTTGTAGGGTTTCTCTCC	0.408000														18			15		7.93312e-07	7.96138e-07	1	1	0
ENTPD1	953	broad.mit.edu	37	10	97604267	97604267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:97604267G>A	uc010qoj.2	+	4	547	c.484G>A	c.(484-486)Gat>Aat	p.D162N	ENTPD1_uc001kle.1_Missense_Mutation_p.D157N|ENTPD1_uc001kli.4_Missense_Mutation_p.D157N|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_Missense_Mutation_p.D42N|ENTPD1_uc010qol.2_Missense_Mutation_p.D42N|ENTPD1_uc001klh.4_Missense_Mutation_p.D150N|ENTPD1_uc010qom.2_Missense_Mutation_p.D150N|ENTPD1_uc010qon.2_Missense_Mutation_p.D12N|ENTPD1_uc009xva.3_Missense_Mutation_p.D12N	NM_001164178	NP_001157655	P49961	ENTP1_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA.	150				D -> K (in Ref. 7; AA sequence).	cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		CAGGGTTCTGGATGTGGTGGA	0.443000														97			35		0	0	1	0	0
LMO3	55885	broad.mit.edu	37	12	16713427	16713427	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:16713427G>A	uc010shz.2	-	4	543	c.318C>T	c.(316-318)atC>atT	p.I106I	LMO3_uc001rdj.2_Silent_p.I95I|LMO3_uc010shy.2_Silent_p.I102I|LMO3_uc001rdk.2_Silent_p.I84I|LMO3_uc001rdl.2_Silent_p.I84I|LMO3_uc009zii.2_Non-coding_Transcript|LMO3_uc001rdn.2_Silent_p.I84I|LMO3_uc001rdm.2_Silent_p.I84I|LMO3_uc009zij.2_Non-coding_Transcript|LMO3_uc001rdo.2_Non-coding_Transcript|LMO3_uc001rdp.2_Non-coding_Transcript|LMO3_uc009zik.2_Non-coding_Transcript	NM_001243613	NP_001230542	Q8TAP4	LMO3_HUMAN	Homo sapiens LIM domain only 3 (rhombotin-like 2) (LMO3), transcript variant 7, mRNA.	84	LIM zinc-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				CAAAGGCAGGGATGAGCTTAC	0.423000														24			31		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058180	9058180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9058180G>A	uc002mkp.3	-	2	29470	c.29266C>T	c.(29266-29268)Cct>Tct	p.P9756S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9758	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGTCACAGGAAGAGGAGAG	0.473000														20			13		0	0	1	0	0
GBE1	2632	broad.mit.edu	37	3	81548268	81548268	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:81548268G>A	uc021xav.1	-	14	2327	c.2045C>T	c.(2044-2046)tCt>tTt	p.S682F		NM_000158	NP_000149	Q04446	GLGB_HUMAN	Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA.	682					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TACCAAAAGAGAATAGGGACG	0.358000									Glycogen Storage Disease, type IV					6			4		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62029011	62029011	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:62029011C>T	uc002jds.1	-	13	2703	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	876					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TTCTCATCCTCGGGGGCAGTC	0.657000														5			11		0	0	1	0	0
OR14C36	127066	broad.mit.edu	37	1	248512786	248512786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248512786C>T	uc010pzl.2	+	0	710	c.710C>T	c.(709-711)tCc>tTc	p.S237F		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						AAGGCCTTTTCCACCTGCATC	0.522000														89			15		0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2089982	2089982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:2089982G>A	uc002fub.1	-	11	3185	c.3130C>T	c.(3130-3132)Ccc>Tcc	p.P1044S	SMG6_uc010vqv.1_Missense_Mutation_p.P136S|SMG6_uc002fud.2_Missense_Mutation_p.P1013S	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	1044					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGGGATGTGGGAGGAGGATTC	0.592000														30			15		0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35640208	35640208	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:35640208G>A	uc002hnm.3	-	4	650	c.459C>T	c.(457-459)ttC>ttT	p.F153F	ACACA_uc002hnk.3_Silent_p.F75F|ACACA_uc002hnl.3_Silent_p.F95F|ACACA_uc002hnn.3_Silent_p.F153F|ACACA_uc002hno.3_Silent_p.F190F|ACACA_uc010cuz.3_Silent_p.F153F|ACACA_uc002hnq.2_Silent_p.F75F	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	153	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCATGACAACGAATCTAATTG	0.413000														31			21		0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43519497	43519497	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:43519497G>A	uc002ovm.1	-	3	842	c.735C>T	c.(733-735)ttC>ttT	p.F245F	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Silent_p.F123F|PSG11_uc002ovo.1_Silent_p.F123F	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	245	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TGACTGAAGGGAAAATTCTGG	0.473000														103			19		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55086388	55086388	+	Silent	SNP	C	T	T	rs143437645		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55086388C>T	uc010ern.3	+	4	1012	c.543C>T	c.(541-543)tcC>tcT	p.S181S	LILRA1_uc002qgg.4_Silent_p.S181S|LILRA1_uc002qgf.3_Silent_p.S181S|LILRA1_uc010yfe.1_Silent_p.S181S|LILRA1_uc010yff.1_Silent_p.S169S|LILRA1_uc010ero.3_Silent_p.S169S|LILRA1_uc010yfg.1_Silent_p.S181S			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	183	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.S181S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCATCTTCTCCGTGGGCCCCG	0.567000														104			29		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89953898	89953898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:89953898G>A	uc003kju.3	+	20	4651	c.4555G>A	c.(4555-4557)Gga>Aga	p.G1519R	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1519	Calx-beta 10.				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)		GTTCAGACAGGGAGAAACTAA	0.383000														50			23		0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871064	170871064	+	Silent	SNP	G	A	A	rs112748399		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:170871064G>A	uc003qxu.3	+	2	519	c.240G>A	c.(238-240)caG>caA	p.Q80Q	TBP_uc011ehf.2_Silent_p.Q60Q|TBP_uc003qxt.3_Silent_p.Q80Q|TBP_uc011ehg.1_Silent_p.Q80Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	80	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q79Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.577000														13			7		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141986872	141986872	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:141986872C>T	uc002tvj.1	-	5	1702	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	244					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)		ATCATATCTTCATTATAAATA	0.303000										TSP Lung(27;0.18)				20			10		0	0	1	0	0
EFHC2	80258	broad.mit.edu	37	X	44088967	44088967	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:44088967G>T	uc004dgb.4	-	10	1768	c.1679C>A	c.(1678-1680)tCc>tAc	p.S560Y	EFHC2_uc022bvg.1_Missense_Mutation_p.S138Y	NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 2 (EFHC2), mRNA.	560	EF-hand.						calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						GAGCTCTCTGGATTTTCCTTC	0.373000														18			12		2.80697e-09	2.82226e-09	1	1	0
CNTN6	27255	broad.mit.edu	37	3	1443140	1443140	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:1443140A>T	uc003boz.3	+	20	2995	c.2728A>T	c.(2728-2730)Att>Ttt	p.I910F	CNTN6_uc011asj.2_Missense_Mutation_p.I838F|CNTN6_uc003bpa.3_Missense_Mutation_p.I910F	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	910	Fibronectin type-III 4.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ACCAGCAAACATTGCCTGGAA	0.373000														6			20		0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184091292	184091292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:184091292C>T	uc003fol.1	-	4	522	c.307G>A	c.(307-309)Gga>Aga	p.G103R	THPO_uc003fom.2_Missense_Mutation_p.G103R|THPO_uc021xii.1_Missense_Mutation_p.G103R|THPO_uc003fon.3_Missense_Mutation_p.G103R|THPO_uc011bro.2_Missense_Mutation_p.G103R|THPO_uc003fop.3_Missense_Mutation_p.G103R|THPO_uc011brp.2_Missense_Mutation_p.G103R|THPO_uc011brq.2_Missense_Mutation_p.G103R|THPO_uc003for.1_Non-coding_Transcript|THPO_uc003fos.1_Non-coding_Transcript|THPO_uc003fot.1_Missense_Mutation_p.G103R|THPO_uc003fou.1_Missense_Mutation_p.G103R	NM_000460	NP_000451	P40225	TPO_HUMAN	Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.	103					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAAGTGGGTCCCAGTTGTCCC	0.602000														31			8		0	0	1	0	0
BCAS4	55653	broad.mit.edu	37	20	49458422	49458422	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:49458422C>T	uc002xvq.3	+	3	538	c.474C>T	c.(472-474)ctC>ctT	p.L158L	BCAS4_uc002xvr.3_Silent_p.L158L|BCAS4_uc002xvs.3_Intron	NM_017843	NP_060313	Q8TDM0	BCAS4_HUMAN	Homo sapiens breast carcinoma amplified sequence 4 (BCAS4), transcript variant 1, mRNA.	158						cytoplasm				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						CCGCAGGGCTCCCCTCCTTCA	0.672000														56			5		0	0	1	0	0
LOC442459	442459	broad.mit.edu	37	X	98975180	98975180	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:98975180C>T	uc011mrd.1	-	7		c.1163G>A								Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA.																		CCTCTTTCTCCAGTATAATCT	0.433000														11			6		0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42804074	42804074	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:42804074C>T	uc010goq.3	+	2	423	c.77C>T	c.(76-78)gCt>gTt	p.A26V	MX1_uc002yzh.3_Missense_Mutation_p.A26V|MX1_uc002yzi.3_Missense_Mutation_p.A26V	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	26					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				AATGGAGATGCTACTGTGGCC	0.488000														65			11		0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999231	72999231	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:72999231C>T	uc002lly.3	+	1	2297	c.1734C>T	c.(1732-1734)tcC>tcT	p.S578S	TSHZ1_uc021uln.1_Silent_p.S578S	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	623						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TCCTGCACTCCCCAGGGAGCC	0.652000														17			6		0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150654535	150654535	+	Silent	SNP	G	A	A	rs146297032		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:150654535G>A	uc003wic.3	-	4	1373	c.972C>T	c.(970-972)ctC>ctT	p.L324L	KCNH2_uc003wib.3_5'Flank|KCNH2_uc011kux.2_Silent_p.L228L|KCNH2_uc003wid.3_5'Flank|KCNH2_uc003wie.3_Silent_p.L324L	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	324					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGTAGCGCACGAGGTCGGAGT	0.632000														29			4		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64629908	64629908	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:64629908C>T	uc003jtp.3	-	7	1892	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	360	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GTGCAGATATCATATCTATGG	0.279000														15			14		0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123298175	123298175	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:123298175C>T	uc021pzz.1	-	5	1326	c.679G>A	c.(679-681)Gga>Aga	p.G227R	FGFR2_uc021pzv.1_Missense_Mutation_p.G227R|FGFR2_uc021pzw.1_Missense_Mutation_p.G112R|FGFR2_uc021pzx.1_Missense_Mutation_p.G138R|FGFR2_uc021pzy.1_Missense_Mutation_p.G227R|FGFR2_uc010qtl.2_Missense_Mutation_p.G227R|FGFR2_uc010qtm.2_Missense_Mutation_p.G112R|FGFR2_uc021qaa.1_Missense_Mutation_p.G227R|FGFR2_uc021qab.1_Missense_Mutation_p.G138R|FGFR2_uc021qac.1_Missense_Mutation_p.G157R|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Missense_Mutation_p.G246R|FGFR2_uc010qto.2_Missense_Mutation_p.G131R|FGFR2_uc001lfo.1_Missense_Mutation_p.G246R|FGFR2_uc010qtp.2_Missense_Mutation_p.G246R|FGFR2_uc010qtq.2_Missense_Mutation_p.G246R	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	227	Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.G227E(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GTATAATTTCCCTTGTCAGAT	0.483000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					40			14		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55148333	55148333	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:55148333G>A	uc010ooe.1	+	13	2710	c.2386G>A	c.(2386-2388)Gga>Aga	p.G796R	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.G364R|HEATR8_uc010ood.1_Missense_Mutation_p.G314R|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.G796R|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Intron|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_5'UTR	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	796						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCTCAGCAATGGAGCAGAGAT	0.572000														30			30		0	0	1	0	0
SRCIN1	80725	broad.mit.edu	37	17	36689657	36689657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:36689657G>A	uc002hqd.3	-	18	3652	c.3427C>T	c.(3427-3429)Cca>Tca	p.P1143S		NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	1015					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TCTTTAGATGGTTTAGTGGCC	0.542000														25			5		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174948	63174948	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:63174948C>T	uc001xfx.3	-	10	2296	c.2245G>A	c.(2245-2247)Gga>Aga	p.G749R	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	749					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACGCTGGTTCCGGTGATGGAG	0.537000														45			30		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155200747	155200747	+	Missense_Mutation	SNP	G	A	A	rs145911919		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:155200747G>A	uc021xge.1	-	22	3369	c.3092C>T	c.(3091-3093)gCt>gTt	p.A1031V	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.A993V	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1031					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTGGAGCAGAGCACTGGAGGA	0.453000														54			25		0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30975992	30975992	+	Missense_Mutation	SNP	C	T	T	rs146035438		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:30975992C>T	uc002ead.1	+	6	1615	c.929C>T	c.(928-930)tCc>tTc	p.S310F		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	310	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding	p.S310F(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GATGCCTTTTCCCGCCGCCAC	0.602000														48			33		0	0	1	0	0
PRR19	284338	broad.mit.edu	37	19	42813869	42813869	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:42813869C>T	uc002oti.3	+	1	511	c.133C>T	c.(133-135)Cct>Tct	p.P45S	PRR19_uc002oth.1_Missense_Mutation_p.P45S|PRR19_uc002otj.3_Missense_Mutation_p.P45S	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	Homo sapiens proline rich 19 (PRR19), mRNA.	45										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				CCACCACGATCCTCCTGTGGC	0.637000														67			32		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187524571	187524571	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:187524571A>C	uc003izf.3	-	18	11297	c.11109T>G	c.(11107-11109)agT>agG	p.S3703R		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3703					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGATCTGAGCACTACCTGGTT	0.428000										HNSCC(5;0.00058)				46			13		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	89399650	89399650	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:89399650G>A	uc021vkt.1	-	63		c.5075_splice	c.e63-1		abParts_uc021vku.1_Intron					Parts of antibodies, mostly variable regions.																		TCTGGCACCTGAGATTGGAAA	0.458000														81			25		0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24579086	24579086	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:24579086G>A	uc002zzn.1	+	1	182	c.138G>A	c.(136-138)ccG>ccA	p.P46P		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	46	SMB.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CCTGCCACCCGACGTGCTCTG	0.632000														269			50		0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10555178	10555179	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:10555178_10555179CC>TT	uc003wtd.1	+	2	340_341	c.311_312CC>TT	c.(310-312)acc>aTT	p.T104I	C8orf74_uc003wte.1_Non-coding_Transcript	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	Homo sapiens chromosome 8 open reading frame 74 (C8orf74), mRNA.	104										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		CATTTCAACACCACCCACCTGC	0.569000														107			63		0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	5984158	5984158	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:5984158G>A	uc010cli.3	+	1	559	c.180G>A	c.(178-180)gtG>gtA	p.V60V	WSCD1_uc002gcn.3_Silent_p.V60V|WSCD1_uc002gco.3_Silent_p.V60V|WSCD1_uc010clj.3_5'UTR	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	Homo sapiens WSC domain containing 1 (WSCD1), mRNA.	60						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TGGCCGCCGTGGCGCTGGGCG	0.721000														2			15		0	0	1	0	0
SPANXC	64663	broad.mit.edu	37	X	140335717	140335717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:140335717C>T	uc004fbk.3	-	1	283	c.227G>A	c.(226-228)aGa>aAa	p.R76K	SPANXC_uc004fbl.3_Non-coding_Transcript	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN	Homo sapiens SPANX family, member C (SPANXC), mRNA.	76						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					GGGGTTGATTCTGTTCTCTCG	0.463000														44			65		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140730169	140730169	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140730169C>T	uc003ljo.2	+	0	342	c.342C>T	c.(340-342)ttC>ttT	p.F114F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Silent_p.F114F	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	117	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAATGTTTTCCACGTGGTTG	0.423000														14			44		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1162206	1162206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:1162206G>A	uc021qbr.1	+	14	1762	c.1715G>A	c.(1714-1716)gGg>gAg	p.G572E				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	563	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)		GGTCTCTGTGGGAACTTCAAC	0.647000														11			3		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583296	82583296	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:82583296C>T	uc003uhx.2	-	4	7262	c.6973G>A	c.(6973-6975)Gag>Aag	p.E2325K	PCLO_uc003uhv.2_Missense_Mutation_p.E2325K|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2256	Pro-rich.				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						GCCTCCAACTCCTTTTTATCT	0.418000														176			29		0	0	1	0	0
LRRC8E	80131	broad.mit.edu	37	19	7964850	7964850	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:7964850C>T	uc002mir.3	+	2	1544	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	481						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TGCAGGTCTTCCTGCGGGACC	0.647000														14			8		0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420926	11420926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11420926C>T	uc001qzs.3	-	2	295	c.257G>A	c.(256-258)gGa>gAa	p.G86E	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	86	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	0.627000														210			181		0	0	1	0	0
SKAP1	8631	broad.mit.edu	37	17	46262129	46262129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:46262129C>T	uc002ini.1	-	6	635	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	SKAP1_uc002inj.1_Missense_Mutation_p.E175K|SKAP1_uc010dbd.1_Missense_Mutation_p.E81K|SKAP1_uc010dbe.1_Missense_Mutation_p.E175K	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA.	175	PH.				T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|plasma membrane	SH2 domain binding|antigen binding|protein kinase binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						AAGCAGGATTCTTTCTTGGAA	0.527000														216			48		0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210642244	210642244	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:210642244C>T	uc010zjc.1	+	3	641	c.561C>T	c.(559-561)ctC>ctT	p.L187L	UNC80_uc021vvx.1_Silent_p.L187L|UNC80_uc002vdj.1_Silent_p.L187L	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN	Homo sapiens unc-80 homolog (C. elegans) (UNC80), transcript variant 1, mRNA.	187						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CTGTGGAGCTCTTCGTGTTTC	0.507000														51			22		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38838294	38838294	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:38838294G>A	uc021yzh.1	+	48	7055	c.6946G>A	c.(6946-6948)Gag>Aag	p.E2316K	DNAH8_uc003ooe.2_Missense_Mutation_p.E2099K	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						GGTTCAGATAGAGGGTTTGAT	0.398000														27			9		0	0	1	0	0
ZNF320	162967	broad.mit.edu	37	19	53377316	53377316	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53377316G>A	uc010eqi.1	-	4		c.389C>T						A2RRD8	ZN320_HUMAN	Homo sapiens zinc finger protein 320 (ZNF320), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TAAGTCTCTGGAAATCAATCC	0.418000														23			4		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21752007	21752007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:21752007C>T	uc010iuc.2	-	11	2682	c.2224G>A	c.(2224-2226)Gaa>Aaa	p.E742K	CDH12_uc011cno.1_Missense_Mutation_p.E702K|CDH12_uc003jgk.2_Missense_Mutation_p.E742K|BC038535_uc003jgj.3_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	742					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCACTCCCTTCGTAGGCATAT	0.507000										HNSCC(59;0.17)				29			132		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124437846	124437846	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:124437846G>A	uc003ehg.3	+	59	8617	c.8490G>A	c.(8488-8490)caG>caA	p.Q2830Q	KALRN_uc003ehk.3_Silent_p.Q1133Q	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2829	Protein kinase.				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						ATGCTGTCCAGATCTCGGGTC	0.552000														21			36		0	0	1	0	0
FOLR3	2352	broad.mit.edu	37	11	71850849	71850849	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:71850849C>T	uc001ory.1	+	4	888	c.838C>T	c.(838-840)Ccg>Tcg	p.P280S	FOLR3_uc001orx.1_Missense_Mutation_p.P237S			P41439	FOLR3_HUMAN	Homo sapiens folate receptor 3 (gamma) (FOLR3), mRNA.	236					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	TGCTGGGGCCCCGTCTCGTGG	0.532000														25			27		0	0	1	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72958153	72958153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:72958153G>A	uc010uks.1	+	15	1768	c.1727G>A	c.(1726-1728)gGg>gAg	p.G576E	DQ582073_uc002aux.1_5'Flank|DQ577530_uc002auy.1_5'Flank	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	Homo sapiens golgin A6 family, member B (GOLGA6B), mRNA.	576										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GAAAGCCAGGGGGCAGTGCCA	0.627000														175			8		0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48285549	48285549	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:48285549C>T	uc010rht.2	+	0	137	c.137C>T	c.(136-138)aCc>aTc	p.T46I		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						ATTGTGGTGACCATCCTGGCC	0.498000														47			14		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91755460	91755460	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:91755460G>A	uc010aty.3	-	24	4584	c.4430C>T	c.(4429-4431)tCt>tTt	p.S1477F		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1477					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TTTCCCCACAGACCCGTTGTG	0.687000														25			5		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2806851	2806851	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:2806851C>T	uc022aqr.1	-	67	10762	c.10372G>A	c.(10372-10374)Gac>Aac	p.D3458N	CSMD1_uc011kwj.2_Missense_Mutation_p.D2773N|CSMD1_uc010lrg.3_Missense_Mutation_p.D1350N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3459						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTTCCAAAGTCTTTTCCATGA	0.333000														31			16		0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74440165	74440165	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:74440165G>A	uc003php.3	+	3	806	c.375G>A	c.(373-375)gaG>gaA	p.E125E	CD109_uc003phq.3_Silent_p.E125E|CD109_uc010kba.3_Intron	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	125						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATCATTTGAGACCAAGAGAA	0.403000														47			16		0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89895081	89895081	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:89895081G>A	uc003pna.2	-	6	1199	c.744C>T	c.(742-744)ttC>ttT	p.F248F	GABRR1_uc011dzv.1_Silent_p.F225F	NM_002042	NP_002033	P24046	GBRR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 1 (GABRR1), mRNA.	248					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	CCTGAATGAGGAACTGGGAGA	0.488000														30			32		0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978233	247978233	+	Silent	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:247978233A>G	uc001idm.1	-	0	799	c.799T>C	c.(799-801)Ttg>Ctg	p.L267L		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						ACAGCATCCAAAATAGAAGGA	0.418000														30			9		0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105789577	105789577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:105789577G>A	uc001pix.2	+	10	1855	c.1409G>A	c.(1408-1410)gGa>gAa	p.G470E	GRIA4_uc001piw.2_Missense_Mutation_p.G470E	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	470					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.G470E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GTCCCTGATGGAAAATATGGA	0.353000														2			15		0	0	1	0	0
FAM19A1	407738	broad.mit.edu	37	3	68466432	68466432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:68466432G>A	uc003dnd.3	+	2	337	c.121G>A	c.(121-123)Gga>Aga	p.G41R	FAM19A1_uc003dne.3_Missense_Mutation_p.G41R|FAM19A1_uc003dng.3_Missense_Mutation_p.G41R	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.	41						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		CTTGCCAGAAGGAGGGACGTG	0.468000														11			31		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103836	53103836	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:53103836G>A	uc003tpz.3	+	0	488	c.472G>A	c.(472-474)Gcc>Acc	p.A158T		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	158										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGGACAGAGAgcccgccccgc	0.726000														44			7		0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35832794	35832794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:35832794C>T	uc010edt.3	+	8	2045	c.1961C>T	c.(1960-1962)tCg>tTg	p.S654L	CD22_uc010edu.3_Missense_Mutation_p.S566L|CD22_uc010edv.3_Missense_Mutation_p.S654L|CD22_uc002nzb.4_Missense_Mutation_p.S477L|CD22_uc010xst.2_Missense_Mutation_p.S482L|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	654	Ig-like C2-type 6.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GTCCAGCACTCGGGTGCCTAC	0.587000														37			31		0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79366132	79366132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:79366132G>A	uc021yaw.1	+	10	1542	c.1351G>A	c.(1351-1353)Gga>Aga	p.G451R	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	451	EGF-like 4.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TTTACAGTGTGGAGTCGGTTG	0.552000														18			14		0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5009489	5009489	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5009489C>T	uc001lzv.3	+	0	66	c.48C>T	c.(46-48)ttC>ttT	p.F16F		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	16					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)		CCTGGTGTTTCGCCGTTCCAG	0.502000											OREG0003716	type=REGULATORY REGION|Gene=MMP26|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		110			29		0	0	1	0	0
SPATA8	145946	broad.mit.edu	37	15	97326937	97326937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:97326937G>A	uc002bue.3	+	0	259	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	DQ596112_uc021swx.1_5'Flank|DQ574554_uc021swy.1_5'Flank|DQ593500_uc010uro.1_5'Flank|DQ573064_uc021swz.1_5'Flank|DQ588115_uc021sxa.1_5'Flank|DQ591967_uc021sxb.1_5'Flank|DQ585716_uc021sxc.1_5'Flank|DQ570416_uc021sxd.1_5'Flank|DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA.	18										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			TCTCTACCAGGAAATTGCCCC	0.552000														49			17		0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43057118	43057118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:43057118G>A	uc002xma.3	+	8	1362	c.1273G>A	c.(1273-1275)Gga>Aga	p.G425R	HNF4A_uc002xlu.3_Intron|HNF4A_uc002xlv.3_Missense_Mutation_p.G403R|HNF4A_uc010ggq.3_Missense_Mutation_p.G418R|HNF4A_uc002xlz.3_Intron	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	425					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.G425E(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCGACCCAGGGGACAGGCAGG	0.542000														199			51		0	0	1	0	0
SLC27A1	376497	broad.mit.edu	37	19	17611306	17611306	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:17611306G>A	uc002ngu.1	+	8	1386	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	SLC27A1_uc010xpp.1_Missense_Mutation_p.E267K|SLC27A1_uc002ngv.1_Missense_Mutation_p.E48K	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 1 (SLC27A1), mRNA.	446	Sufficient for oligomerization (By similarity).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CTCCCTAGGGGAGCCTGGCCT	0.677000														8			8		0	0	1	0	0
AIP	9049	broad.mit.edu	37	11	67257813	67257814	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:67257813_67257814CC>TT	uc001olv.3	+	4	797_798	c.672_673CC>TT	c.(670-675)atccag>atTTag	p.Q225*		NM_003977	NP_003968	O00170	AIP_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein (AIP), mRNA.	225					protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						CTGAATGGATCCAGCTGGACCA	0.629000									Familial Isolated Pituitary Adenoma					24			8		0	0	1	0	0
ZNF187	7741	broad.mit.edu	37	6	28244598	28244598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:28244598C>T	uc011dlc.2	+	4	1432	c.1162C>T	c.(1162-1164)Cat>Tat	p.H388Y	ZNF187_uc003nku.4_Missense_Mutation_p.H254Y|ZNF187_uc003nkw.4_Missense_Mutation_p.H235Y|ZNF187_uc011dle.2_Missense_Mutation_p.H235Y|ZNF187_uc011dlf.2_Missense_Mutation_p.H180Y|ZNF187_uc011dld.2_Missense_Mutation_p.H387Y|ZNF187_uc011dlg.2_Missense_Mutation_p.H235Y	NM_001023560	NP_001018854	Q16670	ZN187_HUMAN	Homo sapiens zinc finger protein 187 (ZNF187), transcript variant a, mRNA.	388					viral reproduction	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										TCAGAGAATCCATAGTCACTC	0.458000														46			16		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72300940	72300940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:72300940G>A	uc001jrd.4	+	15	2272	c.1991G>A	c.(1990-1992)gGc>gAc	p.G664D	KIAA1274_uc001jre.4_5'UTR	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	664										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						TGCCTCAGCGGCCAGGGCCGT	0.607000														32			48		0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983880	97983880	+	Missense_Mutation	SNP	G	A	A	rs145676438	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:97983880G>A	uc003dsi.1	+	0	752	c.752G>A	c.(751-753)cGa>cAa	p.R251Q		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R251Q(2)|p.R251*(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AAAGGGATACGAAAAGCTGTC	0.398000														29			12		0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071960	240071960	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:240071960G>A	uc021plc.1	+	0	1209	c.1209G>A	c.(1207-1209)agG>agA	p.R403R	CHRM3_uc001hyp.3_Silent_p.R403R	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	403					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.E402*(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ACTTGGAGAGGAAAGCCGACA	0.572000														12			9		0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55361016	55361016	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:55361016G>A	uc010spd.1	-	4	394	c.261C>T	c.(259-261)ttC>ttT	p.F87F	TESPA1_uc001sgl.3_5'UTR|TESPA1_uc001sgm.3_5'UTR|TESPA1_uc010spb.1_5'UTR|TESPA1_uc010spc.1_5'UTR|TESPA1_uc001sgn.3_Silent_p.F87F	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	87																	CATGGCTGCAGAAGCCTGTCC	0.498000														13			9		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106744130	106744130	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106744130C>T	uc021ser.1	-	810		c.20367_splice	c.e810-1		LINC00226_uc021seu.1_5'Flank					Parts of antibodies, mostly variable regions.																		ATAGCTGTTCCTTGTGACATC	0.517000														23			9		0	0	1	0	0
ALDH2	217	broad.mit.edu	37	12	112230430	112230430	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:112230430C>T	uc001tst.3	+	8	1023	c.927C>T	c.(925-927)ttC>ttT	p.F309F	ALDH2_uc010syi.2_Silent_p.F262F	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	309					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	AGGCCCACTTCGCCCTGTTCT	0.647000			T	HMGA2	leiomyoma									11			5		0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27068554	27068554	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:27068554C>T	uc002hcp.3	+	13	2015	c.2015C>T	c.(2014-2016)tCc>tTc	p.S672F	TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.3_5'Flank	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	672						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.D672N(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					ACTTCCGTGTCCTGTTGCCAT	0.587000														94			18		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99551703	99551703	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:99551703C>T	uc010nmz.3	-	5	4695	c.3019G>A	c.(3019-3021)Gac>Aac	p.D1007N	PCDH19_uc004efw.4_Missense_Mutation_p.D959N|PCDH19_uc004efx.4_Missense_Mutation_p.D960N	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	1007					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D1006G(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GGGCCGCAGTCGTCATAAGCC	0.572000														18			8		0	0	1	0	0
PURG	29942	broad.mit.edu	37	8	30889494	30889494	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:30889494C>T	uc003xin.3	-	0	824	c.805G>A	c.(805-807)Gtg>Atg	p.V269M	WRN_uc003xio.4_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.V269M	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	Homo sapiens purine-rich element binding protein G (PURG), transcript variant A, mRNA.	269						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TTATTGTCCACTCTGAAAGAA	0.438000														45			22		0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6191490	6191490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:6191490C>T	uc010qzy.2	-	0	67	c.67G>A	c.(67-69)Gag>Aag	p.E23K		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATAAGCCTCCAACCCAGGG	0.443000														38			21		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86468403	86468403	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:86468403G>A	uc003uid.3	+	3	2672	c.1573G>A	c.(1573-1575)Gat>Aat	p.D525N	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.D397N|GRM3_uc010leh.3_Missense_Mutation_p.D117N	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	525					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCAACCAGGGGATGTCTGCTG	0.537000														124			39		0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45476449	45476449	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45476449C>G	uc002pai.3	+	2	345	c.291C>G	c.(289-291)ttC>ttG	p.F97L	CLPTM1_uc010ejv.1_5'UTR|CLPTM1_uc010xxf.2_5'UTR|CLPTM1_uc010xxg.2_Missense_Mutation_p.F83L	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	97					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GCAACCTGTTCCCCAAAGACA	0.637000														118			88		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13876923	13876923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:13876923G>A	uc003jfd.2	-	21	3308	c.3266C>T	c.(3265-3267)aCc>aTc	p.T1089I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1089	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)					TATCTCCAAGGTATCTAAAAA	0.328000									Kartagener syndrome					51			14		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634264	70634264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:70634264C>T	uc001xly.3	-	1	1630	c.876G>A	c.(874-876)atG>atA	p.M292I	SLC8A3_uc001xlw.3_Missense_Mutation_p.M292I|SLC8A3_uc001xlx.3_Missense_Mutation_p.M292I|SLC8A3_uc001xlz.3_Missense_Mutation_p.M292I|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	292					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)		AATGGGAATTCATCATTTTCC	0.473000														52			13		0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62378480	62378480	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:62378480C>T	uc002ygv.2	-	4	1774	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					AACAGCGCCTCTGGAGAGCCC	0.736000														30			4		0	0	1	0	0
STMN3	50861	broad.mit.edu	37	20	62275112	62275112	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:62275112C>T	uc002yfr.1	-	2	370	c.288G>A	c.(286-288)agG>agA	p.R96R	STMN3_uc021wgd.1_Non-coding_Transcript	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	Homo sapiens stathmin-like 3 (STMN3), mRNA.	96					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of Rac GTPase activity|regulation of cytoskeleton organization	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			TCCTTGCCTTCCTCCGCTCCT	0.657000														51			38		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44891395	44891395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:44891395G>A	uc010xxa.2	-	3	1076	c.1033C>T	c.(1033-1035)Cac>Tac	p.H345Y	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.H338Y	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	631					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						TCCCCTGTGTGGACTCGATGA	0.473000														80			11		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891276	18891277	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:18891276_18891277GG>AA	uc001rdy.3	+	0	232_233	c.74_75GG>AA	c.(73-75)ggg>gAA	p.G25E	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	25					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GCCCCTCCAGGGGAATTTGTAA	0.460000														64			12		0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478439	14478439	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:14478439C>T	uc010xai.2	-	2		c.1125G>A								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		TCCCTGATATCGTGATGAACT	0.448000														5			7		0	0	1	0	0
SCGB1D4	404552	broad.mit.edu	37	11	62065014	62065014	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:62065014C>T	uc001ntd.1	-	1	226	c.172G>A	c.(172-174)Gcc>Acc	p.A58T		NM_206998	NP_996881	Q6XE38	SG1D4_HUMAN	Homo sapiens secretoglobin, family 1D, member 4 (SCGB1D4), mRNA.	58						extracellular region	binding			lung(1)|prostate(1)	2						TCCAACTTGGCTGCAAGAGCT	0.443000														188			51		0	0	1	0	0
MMACHC	25974	broad.mit.edu	37	1	45973088	45973088	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:45973088C>T	uc009vxv.3	+	1	291	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L		NM_015506	NP_056321	Q9Y4U1	MMAC_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria (MMACHC), mRNA.	48							cobalamin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGACCTACCCTGGCCTTCCT	0.597000														5			19		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40073416	40073416	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:40073416G>A	uc003ayc.3	+	29	4925	c.4925G>A	c.(4924-4926)gGg>gAg	p.G1642E	CACNA1I_uc003ayd.3_Missense_Mutation_p.G1607E|CACNA1I_uc003aye.3_Missense_Mutation_p.G1557E|CACNA1I_uc003ayf.3_Missense_Mutation_p.G1522E	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1642					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	p.T1641M(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GAGCTCTTTGGGAAGCTGGGT	0.677000														6			3		0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	87027862	87027862	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:87027862C>T	uc003dqn.3	-	1	581	c.217G>A	c.(217-219)Gag>Aag	p.E73K		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		tctttctcctcctcctcctcc	0.507000														17			15		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57829230	57829230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:57829230C>T	uc002yan.3	+	4	4466	c.4466C>T	c.(4465-4467)tCt>tTt	p.S1489F		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1489						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)					ATTGCTACCTCTGTGGCTGCC	0.493000														136			25		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179504809	179504809	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179504809G>A	uc021vsy.1	-	170	33273	c.33048C>T	c.(33046-33048)ctC>ctT	p.L11016L	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.L4711L|TTN_uc021vta.1_Silent_p.L4644L|TTN_uc021vtb.1_Silent_p.L4519L|TTN_uc010fre.1_Silent_p.L894L|TTN_uc002umw.1_Non-coding_Transcript|TTN_uc002umx.1_Silent_p.L231L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11943	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L11016L(2)|p.L4644L(1)|p.L4519L(1)|p.L4711L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGTGCAGGGAGAGGTATTG	0.388000														74			26		0	0	1	0	0
BCL2	596	broad.mit.edu	37	18	60985612	60985613	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:60985612_60985613GG>AA	uc002lit.1	-	1	780_781	c.287_288CC>TT	c.(286-288)acc>aTT	p.T96I	BCL2_uc002liu.1_Missense_Mutation_p.T96I|BCL2_uc002liv.1_Missense_Mutation_p.T96I|BCL2_uc021ulf.1_Missense_Mutation_p.T96I	NM_000633	NP_000624	P10415	BCL2_HUMAN	Homo sapiens B-cell CLL/lymphoma 2 (BCL2), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	96				T -> A (in Ref. 8; AAD14111).	B cell proliferation|B cell receptor signaling pathway|activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to DNA damage stimulus|response to cytokine stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	CCTGGCGGAGGGTCAGGTGGAC	0.767000			T	IGH@	"""NHL, CLL"""									12			10		0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44611664	44611664	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:44611664A>T	uc002oyh.2	+	5	1668	c.1351A>T	c.(1351-1353)Aca>Tca	p.T451S	LOC100379224_uc002oyi.3_Non-coding_Transcript	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	Homo sapiens zinc finger protein 224 (ZNF224), mRNA.	451					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GCGCGTCCATACAGGAGAGAA	0.458000														27			21		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176811564	176811564	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:176811564G>A	uc001gkz.3	+	22	6514	c.5350G>A	c.(5350-5352)Gac>Aac	p.D1784N	PAPPA2_uc009www.3_Non-coding_Transcript|PAPPA2_uc001gla.2_5'Flank	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1784					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R1783L(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CACCTGCCGGGACCCCAAGGC	0.512000														19			17		0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183104926	183104927	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:183104926_183104927CC>TT	uc002uos.3	-	3	392_393	c.308_309GG>AA	c.(307-309)cgg>cAA	p.R103Q	PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Missense_Mutation_p.R103Q|PDE1A_uc010zfq.1_Missense_Mutation_p.R103Q|PDE1A_uc002uor.3_Missense_Mutation_p.R87Q|PDE1A_uc002uou.3_Missense_Mutation_p.R69Q	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	103					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.R103R(1)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TCCCCATTTTCCGTGTAAAGGT	0.421000														46			15		0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587954	55587954	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55587954C>T	uc010rin.2	+	0	849	c.849C>T	c.(847-849)atC>atT	p.I283I		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CCGTGGTGATCCCCATGTTGA	0.473000														46			10		0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41790361	41790361	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:41790361G>A	uc010lxb.3	-	17	5921	c.5377C>T	c.(5377-5379)Cag>Tag	p.Q1793*	KAT6A_uc010lxc.3_Nonsense_Mutation_p.Q1793*|KAT6A_uc003xon.4_Nonsense_Mutation_p.Q1793*	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	1793					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GGAGCCAGCTGAGCCAGTCCT	0.527000														78			101		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29497982	29497982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:29497982G>A	uc002rmy.3	-	10	2976	c.2024C>T	c.(2023-2025)cCc>cTc	p.P675L		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	675					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GTCAAAGATGGGGGTCTGTCT	0.463000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					22			100		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52132766	52132766	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52132766C>T	uc002pxe.3	-	2	684	c.545G>A	c.(544-546)gGg>gAg	p.G182E		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	182	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GAGGGCATTCCCCGTCCAGGA	0.657000														12			4		0	0	1	0	0
C19orf75	284369	broad.mit.edu	37	19	51768643	51768643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51768643C>T	uc002pwb.1	+	2	425	c.44C>T	c.(43-45)tCc>tTc	p.S15F	C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	15						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						CTGCTCAACTCCTCTTGCTCC	0.572000														64			35		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35756611	35756611	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:35756611G>A	uc021rid.1	+	28	5311	c.4777G>A	c.(4777-4779)Gga>Aga	p.G1593R	NBEA_uc021ric.1_Missense_Mutation_p.G1590R|NBEA_uc010abi.3_Missense_Mutation_p.G281R	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1593						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TACAAGAACTGGAAGCCAACC	0.378000														24			19		0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978303	10978303	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:10978303G>A	uc001qyy.1	-	0	566	c.566C>T	c.(565-567)tCc>tTc	p.S189F		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	189					sensory perception of taste	integral to membrane	taste receptor activity	p.S189S(1)		breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGTAATTAGGGATAGTGTAAA	0.358000														47			8		0	0	1	0	0
RBBP5	5929	broad.mit.edu	37	1	205069147	205069147	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:205069147G>A	uc010prd.2	-	6	1184	c.903C>T	c.(901-903)atC>atT	p.I301I	RBBP5_uc010pre.2_Silent_p.I139I|RBBP5_uc001hbu.2_Silent_p.I266I|RBBP5_uc001hbv.2_Silent_p.I266I	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	Homo sapiens retinoblastoma binding protein 5 (RBBP5), transcript variant 1, mRNA.	266					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			AACCTGCCACGATGTATTCCC	0.522000														96			22		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33991977	33991977	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:33991977C>T	uc001zhi.3	+	40	6392	c.6322C>T	c.(6322-6324)Cag>Tag	p.Q2108*	RYR3_uc010bar.3_Nonsense_Mutation_p.Q2108*	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2108	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCGGCAAAATCAGAAGGCCAT	0.448000														16			21		0	0	1	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114083399	114083399	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:114083399C>T	uc001vtq.1	-	3	601	c.514G>A	c.(514-516)Ggc>Agc	p.G172S	ADPRHL1_uc001vtp.1_Missense_Mutation_p.G90S	NM_138430	NP_954631	Q8NDY3	ARHL1_HUMAN	Homo sapiens ADP-ribosylhydrolase like 1 (ADPRHL1), transcript variant 1, mRNA.	172					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CACAGGGAGCCCAGGAAGCCT	0.692000														14			4		0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261738	21261738	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:21261738C>T	uc010bwp.1	+	1	894	c.851C>T	c.(850-852)cCt>cTt	p.P284L	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	284										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		ATATCGAGTCCTGAAGACATC	0.463000														34			16		0	0	1	0	0
C11orf24	53838	broad.mit.edu	37	11	68029501	68029501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:68029501G>A	uc001onr.4	-	3	1404	c.962C>T	c.(961-963)tCc>tTc	p.S321F		NM_022338	NP_071733	Q96F05	CK024_HUMAN	Homo sapiens chromosome 11 open reading frame 24 (C11orf24), mRNA.	321	Pro-rich.					integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						TGTCGTGGGGGACATGGCCTC	0.637000														46			9		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63922670	63922670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:63922670C>T	uc002amp.3	-	68	13109	c.12961G>A	c.(12961-12963)Ggg>Agg	p.G4321R		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	4321					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTTACCTGCCCTTCTGAATTG	0.423000														189			54		0	0	1	0	0
FOXL2	668	broad.mit.edu	37	3	138665125	138665125	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:138665125C>T	uc003esw.3	-	0	858	c.440G>A	c.(439-441)cGc>cAc	p.R147H	AK128202_uc003esv.1_5'Flank|C3orf72_uc003esx.1_5'Flank|AK304483_uc011bmr.2_5'Flank	NM_023067	NP_075555	P58012	FOXL2_HUMAN	Homo sapiens forkhead box L2 (FOXL2), mRNA.	147					DNA fragmentation involved in apoptotic nuclear change|convergent extension|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|caspase regulator activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						CTTCATGCGGCGGCGGCGCCG	0.751000			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""							15			3		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34077984	34077984	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:34077984C>T	uc001zhi.3	+	65	9460	c.9390C>T	c.(9388-9390)gtC>gtT	p.V3130V	RYR3_uc010bar.3_Silent_p.V3130V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3130					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGCCCCATGTCATCGAGGTGA	0.587000														135			52		0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42143764	42143764	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:42143764C>T	uc010zwh.2	+	4	628	c.552C>T	c.(550-552)tcC>tcT	p.S184S	L3MBTL1_uc010ggk.2_Silent_p.S116S|L3MBTL1_uc002xkm.3_Silent_p.S116S|L3MBTL1_uc010ggl.3_Silent_p.S116S|L3MBTL1_uc002xkl.3_Silent_p.S116S	NM_032107	NP_115479	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant II, mRNA.	116					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	SAM domain binding|identical protein binding|methylated histone residue binding|nucleosomal histone binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						ATCTTGGTTCCTCTAATGATG	0.592000														79			17		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171631	150171631	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:150171631G>A	uc003whj.3	+	3	1544	c.1214G>A	c.(1213-1215)gGa>gAa	p.G405E		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	405						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CGGGCAACAGGAGAAGAAGAG	0.428000														46			33		0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180063461	180063461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:180063461G>A	uc001gnt.3	+	33	8604	c.8221G>A	c.(8221-8223)Gaa>Aaa	p.E2741K	CEP350_uc009wxl.2_Missense_Mutation_p.E2740K|CEP350_uc001gnv.3_Missense_Mutation_p.E876K|CEP350_uc001gnw.1_Missense_Mutation_p.E498K|CEP350_uc001gnx.1_Missense_Mutation_p.E498K	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2741						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ACTAAATGAGGAAAAAAAGTC	0.353000														35			22		0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237240144	237240144	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:237240144C>T	uc002vwb.2	-	17	2289	c.2255G>A	c.(2254-2256)gGa>gAa	p.G752E	IQCA1_uc002vvz.1_Missense_Mutation_p.G744E|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.G703E	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	744							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GACTATATGTCCTTGGGTGAA	0.493000														56			15		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21908575	21908575	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:21908575A>T	uc003svc.3	+	73	11985	c.11954A>T	c.(11953-11955)aAa>aTa	p.K3985I		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3985	AAA 6 (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						GCCCTGGAGAAAGCTTCCAAA	0.512000									Kartagener syndrome					76			34		0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161214886	161214886	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:161214886C>T	uc011bpb.2	+	0	291	c.291C>T	c.(289-291)ttC>ttT	p.F97F		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	97						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CAGCTGATTTCTTTTTGAATT	0.443000														40			89		0	0	1	0	0
TMEM144	55314	broad.mit.edu	37	4	159154117	159154118	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:159154117_159154118CC>TT	uc003ipx.3	+	6	998_999	c.478_479CC>TT	c.(478-480)cca>TTa	p.P160L	TMEM144_uc010iqi.3_Non-coding_Transcript	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	Homo sapiens transmembrane protein 144 (TMEM144), mRNA.	160						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		GGATACCACTCCATTAATAACA	0.267000														36			6		0	0	1	0	0
HS3ST6	64711	broad.mit.edu	37	16	1961845	1961845	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:1961845C>T	uc002cnf.3	-	1	682	c.682G>A	c.(682-684)Gag>Aag	p.E228K	TCRBV20S1_uc021tak.1_Intron	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.	228										endometrium(2)|lung(2)	4						CGGCCGACCTCTCCGGCCGGG	0.657000														61			23		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94718122	94718122	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:94718122G>A	uc001ycs.1	+	15	1908	c.1754G>A	c.(1753-1755)cGa>cAa	p.R585Q		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	585						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AATAGACTTCGATTTTTGGAT	0.279000														23			19		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38883985	38883985	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:38883985G>A	uc003jln.2	+	4	877	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	OSMR_uc003jlm.2_Missense_Mutation_p.E159K	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	159					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TAAGCTGGTGGAAGAAGGCAC	0.353000														40			16		0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19385519	19385519	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:19385519G>A	uc002zpf.1	-	5	709	c.489C>T	c.(487-489)ttC>ttT	p.F163F	HIRA_uc011agx.1_Silent_p.F29F|HIRA_uc010grn.1_Silent_p.F163F|HIRA_uc010gro.2_Silent_p.F119F|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	163					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCAGACCTGGGAACTTTACAG	0.532000														48			15		0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97852246	97852246	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:97852246G>A	uc011bgt.2	+	0	705	c.705G>A	c.(703-705)agG>agA	p.R235R		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V234L(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AAGGTGTAAGGAAAGCCTTTT	0.408000														72			22		0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	174814907	174814908	+	Missense_Mutation	DNP	AC	GT	GT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:174814907_174814908AC>GT	uc003fit.3	+	1	458_459	c.371_372AC>GT	c.(370-372)cac>cGT	p.H124R	NAALADL2_uc003fiu.1_Missense_Mutation_p.H117R	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	124					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)		AACTTTTGCCACGTCTTAAAAA	0.386000														52			65		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56138694	56138694	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:56138694G>A	uc010qhy.1	-	4	576	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	PCDH15_uc010qhq.2_Silent_p.L61L|PCDH15_uc010qhr.2_Silent_p.L56L|PCDH15_uc021pqv.1_Silent_p.L56L|PCDH15_uc021pqw.1_Silent_p.L61L|PCDH15_uc010qht.2_Silent_p.L56L|PCDH15_uc021pqx.1_Silent_p.L56L|PCDH15_uc001jjv.1_Silent_p.L34L|PCDH15_uc021pqy.1_Silent_p.L56L|PCDH15_uc021pqz.1_Silent_p.L34L|PCDH15_uc010qhv.1_Silent_p.L56L|PCDH15_uc010qhw.1_Silent_p.L56L|PCDH15_uc010qhx.1_Silent_p.L56L|PCDH15_uc010qhz.1_Silent_p.L56L|PCDH15_uc010qia.1_Silent_p.L34L|PCDH15_uc001jju.1_Silent_p.L56L|PCDH15_uc010qib.1_Silent_p.L34L|PCDH15_uc001jjw.3_Silent_p.L56L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	56	Cadherin 1.				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)				TTGTCCACCAGAATTGTACCT	0.423000										HNSCC(58;0.16)				111			43		0	0	1	0	0
ZNF83	55769	broad.mit.edu	37	19	53117713	53117713	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53117713C>T	uc002pzu.4	-	1	1349	c.105G>A	c.(103-105)ggG>ggA	p.G35G	ZNF83_uc002pzv.4_Silent_p.G35G|ZNF83_uc010eps.3_Silent_p.G35G|ZNF83_uc010ept.3_Silent_p.G35G|ZNF83_uc010epu.3_Silent_p.G35G|ZNF83_uc010epw.3_Silent_p.G35G|ZNF83_uc010epv.3_Silent_p.G35G|ZNF83_uc010epx.3_Silent_p.G35G|ZNF83_uc010epy.3_Silent_p.G35G|ZNF83_uc010epz.3_Silent_p.G35G|ZNF83_uc010eqb.2_Silent_p.G35G|ZNF83_uc021uyx.1_Silent_p.G35G	NM_018300	NP_060770	P51522	ZNF83_HUMAN	Homo sapiens zinc finger protein 83 (ZNF83), transcript variant 5, mRNA.	35						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TATATATTTTCCCTTCAGCTT	0.398000														38			6		0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223773638	223773638	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:223773638G>T	uc002vni.3	+	3	599	c.148G>T	c.(148-150)Gaa>Taa	p.E50*	ACSL3_uc002vnj.3_Nonsense_Mutation_p.E50*	NM_004457	NP_976251	O95573	ACSL3_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	50					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GTCAAGACAAGAAAAATCAAA	0.299000			T	ETV1	prostate									29			15		2.32078e-09	2.33386e-09	1	1	0
SUCLA2	8803	broad.mit.edu	37	13	48575367	48575367	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:48575367C>T	uc001vbs.3	-	0	96	c.39G>A	c.(37-39)gtG>gtA	p.V13V	SUCLA2_uc010tgb.2_5'Flank|SUCLA2_uc010tgc.2_5'UTR|SUCLA2_uc010tgd.2_Intron	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN	Homo sapiens succinate-CoA ligase, ADP-forming, beta subunit (SUCLA2), nuclear gene encoding mitochondrial protein, mRNA.	13			V -> M (in dbSNP:rs35201084).		succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	GAAGGGTGGCCACGGCCACTA	0.697000														8			3		0	0	1	0	0
SLC25A21	89874	broad.mit.edu	37	14	37180645	37180645	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:37180645C>A	uc001wtz.2	-	6	791	c.481G>T	c.(481-483)Gaa>Taa	p.E161*	SLC25A21_uc021rsf.1_Nonsense_Mutation_p.E161*	NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 (SLC25A21), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	161					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		CCCCAGCCTTCCTTCTTAATG	0.438000														25			24		7.38237e-10	7.42676e-10	1	1	0
LRP2	4036	broad.mit.edu	37	2	170100032	170100032	+	Splice_Site	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:170100032T>C	uc002ues.3	-	23	3644	c.3431_splice	c.e23-1	p.N1144_splice	LRP2_uc010zdf.1_Splice_Site_p.N1007_splice	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1144	LDL-receptor class A 10.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTCTGTCGAATCTAATGTCAT	0.388000														15			33		0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36133961	36133961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:36133961C>T	uc001wtj.3	-	25	4088	c.3697G>A	c.(3697-3699)Gaa>Aaa	p.E1233K	RALGAPA1_uc010amp.3_Non-coding_Transcript|RALGAPA1_uc001wti.3_Missense_Mutation_p.E1233K|RALGAPA1_uc010tpv.2_Missense_Mutation_p.E1246K|RALGAPA1_uc010tpw.1_Missense_Mutation_p.E1280K	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	1233					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity	p.E1233G(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACTTGTGCTTCTACTCTTGGT	0.348000														27			10		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553689	19553689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:19553689G>A	uc001vuz.1	+	0	325	c.273G>A	c.(271-273)atG>atA	p.M91I	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	91										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						ACTCTGCTATGAAGACACTCA	0.622000														435			31		0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61443910	61443910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:61443910C>T	uc010qig.1	-	1	589	c.140G>A	c.(139-141)gGa>gAa	p.G47E		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	47					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TTTTCCTTTTCCTTCACCAAA	0.433000														35			64		0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55593603	55593603	+	Missense_Mutation	SNP	T	C	C	rs121913234		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:55593603T>C	uc010igr.3	+	10	1756	c.1669T>C	c.(1669-1671)Tgg>Cgg	p.W557R	KIT_uc010igs.3_Missense_Mutation_p.W553R|KIT_uc010igt.2_Missense_Mutation_p.W6R	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	557			Missing (in GIST; somatic mutation).		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.W557_K558del(527)|p.W557R(120)|p.W557G(72)|p.W557_E561del(59)|p.K550_K558del(50)|p.E554_K558del(39)|p.W557_V559>C(35)|p.W557_V559>F(33)|p.M552_W557del(30)|p.W557?(26)|p.W557_V559del(21)|p.W557del(19)|p.Q556_V560del(19)|p.Y553_K558del(18)|p.Y553_K558>(16)|p.Q556_W557del(14)|p.Y553_Q556del(13)|p.W557_V560>C(11)|p.V555_K558del(11)|p.V555_V559del(11)|p.P551_Q556del(11)|p.W557_K558>E(10)|p.Q556_V559>H(9)|p.M552_V559>I(9)|p.W557_Q575del(9)|p.Q556_V560>H(9)|p.Y553_W557del(8)|p.V555_P573del(8)|p.V555_Q556del(8)|p.W557_V560del(8)|p.Q556_D572del(8)|p.Q556_V559del(8)|p.E554_V559del(8)|p.Q556_K558del(8)|p.V555_I571del(7)|p.Q556_V559>HT(7)|p.E554_V560>D(7)|p.K550_Q556del(7)|p.V555_V560del(7)|p.K550_W557del(6)|p.Y553_T574>S(6)|p.Q556_L576del(5)|p.M552_K558del(5)|p.M552_D572del(5)|p.W557C(5)|p.K550_V559del(5)|p.E554_W557del(4)|p.P551_K558del(4)|p.W557_V560>F(4)|p.V555_E562del(4)|p.M552_Q556del(4)|p.Q556_D572>H(4)|p.W557_K558>S(4)|p.W557_E562del(4)|p.Q556_T574del(4)|p.P551_V559del(4)|p.Q556_K558>R(4)|p.M552_Q556>K(4)|p.M552_E561>K(3)|p.W557_K558>CP(3)|p.E554_I571del(3)|p.W557S(3)|p.V555_D572del(3)|p.K550_K558>Q(3)|p.Q556_P573del(3)|p.E554_W557>V(3)|p.E554_D572>A(3)|p.K550_W557>IL(3)|p.W557_I571del(3)|p.P551_V559>I(2)|p.Y553_E561>LK(2)|p.Y553_D572del(2)|p.P551_W557>R(2)|p.L548_K558>Q(2)|p.Q556_K558>HPCR(2)|p.V555_Y570del(2)|p.M552_T574>TESA(2)|p.Q556_D572>PS(2)|p.W557_P573>S(2)|p.K550_Q556>L(2)|p.W557_K558>CT(2)|p.E554_K558>G(2)|p.Q556_W557>R(2)|p.M552_K558>T(2)|p.E554_E562del(2)|p.W557_K558>F(2)|p.Q556_N566>SNNLQLY(2)|p.W557_K558>Q(2)|p.E554_K557>G(2)|p.V555_V560>V(2)|p.W557_T574del(2)|p.P551_V569del(2)|p.W557*(2)|p.Q556_E561>HH(2)|p.Q556_V560>TTF(2)|p.M552_Q556>T(2)|p.E554_N567del(2)|p.P551_V559del>L(2)|p.P551_Q556>T(2)|p.E554_D572del(2)|p.Y553_V559del(2)|p.V555_Q556>E(2)|p.M552_W557>R(2)|p.W557_D572del(2)|p.E554_Q556del(2)|p.V555_N566>D(2)|p.Q556_V560>HNLQLY(2)|p.W557_V559>I(2)|p.Y553_E561del(2)|p.Q556_K558>H(2)|p.K550fs*6(2)|p.Q556_K558>HT(2)|p.W557_N564del(2)|p.V555_G565del(2)|p.Q556_N564>R(2)|p.V555_Q575del(2)|p.V555_I563del(2)|p.Y547_K558>Q(2)|p.Q556_V560>F(2)|p.Q556_E561del(2)|p.E554_N564del(2)|p.Q556H(2)|p.Y553_V559>E(2)|p.K550_W557>QR(2)|p.Q556_E561>P(2)|p.Q556_N564>H(2)|p.E554_Y568>D(1)|p.Q556R(1)|p.Q556_I563del(1)|p.K550_Y568del(1)|p.Q556_K558>PT(1)|p.M552_K558>NE(1)|p.V555_V559>G(1)|p.E554_N564>D(1)|p.E554_I571>A(1)|p.K550_W557>FL(1)|p.Y553_W557>R(1)|p.K550_V560>L(1)|p.W557_T575>CP(1)|p.E554_Y570del(1)|p.E554_E561del(1)|p.W557_K558>C(1)|p.Y553_P573del(1)|p.Q556_V559>PF(1)|p.E554_L576>DNCSHLSPQQP(1)|p.V555_V560>T(1)|p.W557_E561>PS(1)|p.W557_K558>SS(1)|p.Q556_L576>H(1)|p.Y553_K558>SE(1)|p.W557_K558>FP(1)|p.V555_V560>H(1)|p.W557_K558>FQ(1)|p.P551_W557del(1)|p.Q556_Q575del(1)|p.Y553_N564>L(1)|p.W557F(1)|p.Q556_V559>HF(1)|p.W557_I563>T(1)|p.M552_Q556>(1)|p.M552_V559>IT(1)|p.M552_W557>Z(1)|p.P551_V569>L(1)|p.Q556_N564del(1)|p.E554_V560>K(1)|p.(550_592)ins7(1)|p.Q556_W557>E(1)|p.K550_K558>G(1)|p.Y553_L576>NCLHLYSSQ(1)|p.Q556_K558>N(1)|p.Q556_K558>T(1)|p.W557_N564>C(1)|p.W557_I563>FP(1)|p.W557_K558>CQ(1)|p.M552_Y570del(1)|p.Y553_K558>L(1)|p.M552_V560del(1)|p.W557_Y570del(1)|p.Q556P(1)|p.M552_I563del(1)|p.W557_K558>Y(1)|p.K550_W557>IR(1)|p.P551_Q556>HV(1)|p.P551_E561>Q(1)|p.V555_W557del(1)|p.V555_N564del(1)|p.W557_V559>PF(1)|p.W557_V559>E(1)|p.E554_N566del(1)|p.Q556L(1)|p.K550_W557>HR(1)|p.K550_Q556>II(1)|p.Q556_E561>PS(1)|p.Y553_V559>L(1)|p.W557_P573del(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGAAGTACAGTGGAAGGTTGT	0.388000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					27			77		0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52963710	52963710	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:52963710C>T	uc001sap.1	-	5	1115	c.1067G>A	c.(1066-1068)aGc>aAc	p.S356N		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	356	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CACCATCTCGCTCCTGGTGTG	0.577000														4			24		0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473406	53473406	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53473406G>A	uc002qan.4	-	3		c.1095C>T								Homo sapiens zinc finger protein 702, pseudogene (ZNF702P), non-coding RNA.																		TGAATTACAAGGGATGACTTG	0.388000														30			6		0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566080	5566080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5566080G>A	uc010qzh.2	-	0	674	c.674C>T	c.(673-675)tCc>tTc	p.S225F	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S225S(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGTGCGTAGGAAACAGCAAT	0.512000														55			12		0	0	1	0	0
AWAT1	158833	broad.mit.edu	37	X	69460015	69460015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:69460015G>A	uc004dxy.3	+	6	903	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K		NM_001013579	NP_001013597	Q58HT5	AWAT1_HUMAN	Homo sapiens acyl-CoA wax alcohol acyltransferase 1 (AWAT1), mRNA.	288					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						GCCCCAAATTGAAAAGCCAAG	0.493000														0			21		0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44228420	44228420	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:44228420C>T	uc001mya.3	+	9	1728	c.1672C>T	c.(1672-1674)Cct>Tct	p.P558S	EXT2_uc010rfo.2_Missense_Mutation_p.P553S|EXT2_uc009ykt.3_Missense_Mutation_p.P535S|EXT2_uc001mxz.3_Missense_Mutation_p.P525S	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	525					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity	p.R557Q(1)|p.R557R(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCGTTTCTTCCCTTATGATGA	0.408000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses					73			19		0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60448873	60448873	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:60448873C>T	uc002ybn.2	+	6	1055	c.967C>T	c.(967-969)Cca>Tca	p.P323S	CDH4_uc002ybr.2_Missense_Mutation_p.P286S|CDH4_uc002ybp.2_Missense_Mutation_p.P249S	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	323	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GACCCAGACCCCACAGAGCCC	0.627000														60			83		0	0	1	0	0
ATP6AP1L	92270	broad.mit.edu	37	5	81614000	81614000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:81614000C>T	uc003khv.3	+	9	1881	c.556C>T	c.(556-558)Cct>Tct	p.P186S	ATP6AP1L_uc003khw.3_Missense_Mutation_p.P186S	NM_001017971	NP_001017971	Q52LC2	VAS1L_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1-like (ATP6AP1L), mRNA.	186					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						CATCGCCTCTCCTGCCCACTT	0.547000														23			17		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502263	140502263	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140502263G>A	uc003lip.1	+	0	683	c.683G>A	c.(682-684)cGa>cAa	p.R228Q		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	228	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.R228*(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCATGGTTCGAATCCTGATC	0.537000														80			28		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5485271	5485271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:5485271C>T	uc002gci.3	-	2	1115	c.560G>A	c.(559-561)gGa>gAa	p.G187E	NLRP1_uc002gcg.1_Missense_Mutation_p.G187E|NLRP1_uc002gch.4_Missense_Mutation_p.G187E|NLRP1_uc002gck.3_Missense_Mutation_p.G187E|NLRP1_uc002gcj.3_Missense_Mutation_p.G187E|NLRP1_uc002gcl.3_Missense_Mutation_p.G187E|NLRP1_uc010clh.3_Missense_Mutation_p.G187E	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	187					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGGTGGGGATCCCCAGCTCCC	0.597000														58			22		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32836468	32836468	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:32836468C>T	uc001utx.3	+	52	8131	c.7635C>T	c.(7633-7635)ccC>ccT	p.P2545P	FRY_uc010tdw.2_Non-coding_Transcript|FRY_uc001utz.3_Silent_p.P70P|FRY_uc010tdx.2_5'Flank	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTCTCTCCCCCTCTGAAGAGA	0.423000														22			9		0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149441314	149441314	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:149441314C>T	uc003lrl.3	-	10	1920	c.1725G>A	c.(1723-1725)tgG>tgA	p.W575*	CSF1R_uc011dcd.2_Nonsense_Mutation_p.W427*|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Nonsense_Mutation_p.W575*	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	575					cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGGGGAACTCCCACTTCTCGT	0.567000														82			23		0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35910561	35910561	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:35910561G>A	uc003jjt.1	-	2	317	c.222C>T	c.(220-222)gtC>gtT	p.V74V	CAPSL_uc003jju.1_Silent_p.V74V	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	74	EF-hand 1.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CTTTTTCCATGACCACAGCAT	0.328000														48			41		0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53303290	53303290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53303290C>T	uc002qad.3	-	3	1965	c.1808G>A	c.(1807-1809)gGa>gAa	p.G603E	ZNF28_uc002qac.3_Missense_Mutation_p.G549E|ZNF28_uc010eqe.3_Missense_Mutation_p.G549E|ZNF28_uc021uza.1_Missense_Mutation_p.G550E	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	603					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		AGGTTTCTCTCCAGTATGAAC	0.448000														126			36		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121761086	121761086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:121761086G>A	uc003ksw.1	+	4	1248	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.E348K|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.E395K|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.E42K|SNCAIP_uc010jcx.1_Intron	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	348					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	p.D347H(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AATTCACGACGAAAATGGAAA	0.438000														10			84		0	0	1	0	0
KRT10	3858	broad.mit.edu	37	17	38975075	38975075	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:38975075G>A	uc002hvi.3	-	6	1738	c.1712C>T	c.(1711-1713)tCc>tTc	p.S571F	TMEM99_uc021txc.1_5'Flank|TMEM99_uc002hvj.1_5'Flank|TMEM99_uc021txd.1_5'Flank	NM_000421	NP_000412	P13645	K1C10_HUMAN	Homo sapiens keratin 10 (KRT10), mRNA.	571	Gly-rich.|Ser-rich.|Tail.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				CACGGACCCGGAAGAGGAGGA	0.632000														34			7		0	0	1	0	0
THOC6	79228	broad.mit.edu	37	16	3077381	3077382	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:3077381_3077382CC>TT	uc002ctb.2	+	11	1121_1122	c.825_826CC>TT	c.(823-828)ggccag>ggTTag	p.Q276*	THOC6_uc002ctd.2_Intron|THOC6_uc002cta.2_Nonsense_Mutation_p.Q252*	NM_024339	NP_077315	Q86W42	THOC6_HUMAN	Homo sapiens THO complex 6 homolog (Drosophila) (THOC6), transcript variant 1, mRNA.	276					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						TGTCAGCTGGCCAGGGCCGCTG	0.653000														33			23		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169312711	169312711	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:169312711C>T	uc021xuh.1	-	27	4005	c.3895G>A	c.(3895-3897)Gat>Aat	p.D1299N	DDX60L_uc003irq.4_Missense_Mutation_p.D1299N|DDX60L_uc003irr.1_Missense_Mutation_p.D1300N	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1299	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTTAAAGCATCCAGATAGACT	0.403000														6			9		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77457119	77457119	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:77457119A>T	uc004ajl.1	-	3	531	c.293T>A	c.(292-294)aTt>aAt	p.I98N	TRPM6_uc004ajk.1_Missense_Mutation_p.I93N|TRPM6_uc022bib.1_Missense_Mutation_p.I93N|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.I98N|TRPM6_uc010mpd.1_Missense_Mutation_p.I98N|TRPM6_uc010mpe.1_Missense_Mutation_p.I98N|TRPM6_uc004ajn.1_Missense_Mutation_p.I98N	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	98					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTGGAAATTAATCGTGCCAAA	0.408000														9			46		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215818600	215818600	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:215818600C>T	uc002vew.3	-	43	6845	c.6625G>A	c.(6625-6627)Gaa>Aaa	p.E2209K	ABCA12_uc002vev.3_Missense_Mutation_p.E1891K|ABCA12_uc010zjn.2_Missense_Mutation_p.E1136K	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2209					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATCAGGGATTCGTTGATTAAG	0.348000														17			6		0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125397827	125397827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:125397827G>A	uc001ugs.4	-	1	949	c.491C>T	c.(490-492)aCc>aTc	p.T164I	UBC_uc001ugr.3_5'Flank|UBC_uc001ugt.3_Missense_Mutation_p.T164I|UBC_uc001ugu.1_Missense_Mutation_p.T164I|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Missense_Mutation_p.T164I|UBC_uc001ugw.3_Missense_Mutation_p.T12I	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	164	Ubiquitin-like 3.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GAGGGTGATGGTCTTACCAGT	0.512000														199			30		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69021713	69021713	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:69021713C>T	uc003xxv.1	+	24	3028	c.3001C>T	c.(3001-3003)Ctg>Ttg	p.L1001L	PREX2_uc011lez.1_Silent_p.L936L	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1001					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CCCTTCAGGTCTGTCTCTGGG	0.463000														40			17		0	0	1	0	0
LY6G5C	80741	broad.mit.edu	37	6	31647023	31647024	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:31647023_31647024CC>TT	uc003nvu.2	-	1	143_144	c.143_144GG>AA	c.(142-144)tgg>tAA	p.W48*	LY6G5C_uc003nvw.1_Non-coding_Transcript|LY6G5C_uc010jtb.1_Non-coding_Transcript	NM_025262	NP_079538	Q5SRR4	LY65C_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G5C (LY6G5C), mRNA.	48						extracellular region				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						GAGGGGGTTCCCAATTGACAGG	0.540000														465			97		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40958222	40958222	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:40958222G>A	uc003jmh.3	+	10	1462	c.1348G>A	c.(1348-1350)Gat>Aat	p.D450N	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	450	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AGAGTATCTGGATGAATTTGA	0.443000														54			12		0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701533	143701533	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:143701533C>T	uc003wdt.1	+	0	444	c.444C>T	c.(442-444)tcC>tcT	p.S148S		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G147D(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CTCTTGGTTCCTGGGCCATTG	0.557000														27			24		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81228577	81228577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:81228577C>T	uc002fgh.1	-	7	1597	c.1597G>A	c.(1597-1599)Gaa>Aaa	p.E533K	PKD1L2_uc002fgj.3_Missense_Mutation_p.E533K	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	533	REJ.				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						TTCCCGATTTCCAAACTCAGG	0.493000														3			26		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52520482	52520482	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:52520482G>A	uc001wzo.3	-	4	1478	c.1244C>T	c.(1243-1245)cCc>cTc	p.P415L	NID2_uc010tqs.2_Missense_Mutation_p.P415L|NID2_uc010tqt.1_Missense_Mutation_p.P415L|NID2_uc001wzp.3_Missense_Mutation_p.P415L	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	415						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCCGTTTTCGGGGTACGGTGG	0.552000														84			24		0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23523165	23523166	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:23523165_23523166CT>TC	uc002zww.3	+	0	614_615	c.18_19CT>TC	c.(16-21)ggcttc>ggTCtc	p.F7L	BCR_uc002zwx.3_Missense_Mutation_p.F7L	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	7	Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						ACCCGGTGGGCTTCGCGGAGGC	0.772000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									12			10		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132200660	132200660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:132200660C>T	uc002tst.2	-	0	1808	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		TGCCAGGCTTCCACTGCCTGC	0.612000														4			8		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120431	94120431	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:94120431G>A	uc003poe.3	-	2	861	c.620C>T	c.(619-621)tCc>tTc	p.S207F	EPHA7_uc003pof.3_Missense_Mutation_p.S207F|EPHA7_uc011eac.2_Missense_Mutation_p.S207F|EPHA7_uc003pog.4_Missense_Mutation_p.S207F	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	207	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.S207F(2)|p.W206L(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTCAATAATGGACCAGCACTT	0.433000														25			11		0	0	1	0	0
KIAA1751	85452	broad.mit.edu	37	1	1900196	1900196	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:1900196T>G	uc001aim.1	-	10	1279	c.1123A>C	c.(1123-1125)Aag>Cag	p.K375Q	KIAA1751_uc009vkz.1_Missense_Mutation_p.K375Q	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	375										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TTCTTCCTCTTTTCCTCCTCA	0.537000														50			26		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164857	139164857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:139164857C>T	uc003yuy.3	-	12	2032	c.1861G>A	c.(1861-1863)Gga>Aga	p.G621R	FAM135B_uc003yux.3_Missense_Mutation_p.G522R|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.G183R|FAM135B_uc003yvb.3_Missense_Mutation_p.G183R	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	621										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGATCTATTCCCTTTCCTAGA	0.473000										HNSCC(54;0.14)				62			27		0	0	1	0	0
PRSS54	221191	broad.mit.edu	37	16	58314472	58314472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:58314472C>T	uc002enf.3	-	6	1239	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	PRSS54_uc002eng.3_Missense_Mutation_p.E282K|PRSS54_uc010vie.2_Missense_Mutation_p.E183K|CCDC113_uc002ene.3_3'UTR|CCDC113_uc010vid.2_3'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	Homo sapiens protease, serine, 54 (PRSS54), mRNA.	282					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATCAACTTTTCCCAGTGGTGG	0.517000														18			13		0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123965046	123965046	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:123965046G>A	uc022bag.1	+	0	1296	c.1296G>A	c.(1294-1296)aaG>aaA	p.K432K	ZHX2_uc003ypk.1_Silent_p.K432K	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	432	Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CCCCACCCAAGGTGGCCAACC	0.612000														18			6		0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9406452	9406452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9406452G>A	uc002mlc.1	-	4	1628	c.1628C>T	c.(1627-1629)cCc>cTc	p.P543L		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	Homo sapiens zinc finger protein 699 (ZNF699), mRNA.	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGGGCTGAGGGATAAATAAA	0.413000														20			10		0	0	1	0	0
SLC25A47	283600	broad.mit.edu	37	14	100793595	100793595	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:100793595G>C	uc001yhc.3	+	3	288	c.215G>C	c.(214-216)gGc>gCc	p.G72A	SLC25A47_uc001yhd.3_5'UTR	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	Homo sapiens solute carrier family 25, member 47 (SLC25A47), nuclear gene encoding mitochondrial protein, mRNA.	72					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GTGTCTTTTGGCACCTACCGC	0.657000														61			46		0	0	1	0	0
OR5K2	402135	broad.mit.edu	37	3	98217005	98217005	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:98217005G>A	uc011bgx.2	+	0	481	c.481G>A	c.(481-483)Ggg>Agg	p.G161R		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 2 (OR5K2), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GATTCATGTAGGGCTTGTATT	0.428000														98			30		0	0	1	0	0
RFXANK	8625	broad.mit.edu	37	19	19308364	19308364	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:19308364C>T	uc002nls.3	+	5	877	c.372C>T	c.(370-372)ggC>ggT	p.G124G	RFXANK_uc002nlt.3_Silent_p.G101G|RFXANK_uc002nlu.3_Silent_p.G102G|RFXANK_uc002nlv.3_Silent_p.G124G|RFXANK_uc021uqt.1_Silent_p.G123G	NM_003721	NP_003712	O14593	RFXK_HUMAN	Homo sapiens regulatory factor X-associated ankyrin-containing protein (RFXANK), transcript variant 1, mRNA.	124						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			ACGAGCGCGGCTTCACCCCCC	0.652000														25			14		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50724519	50724519	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:50724519G>A	uc003bkv.4	-	9	1979	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F		NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	629					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCTCACGCAGGAGATGCACCT	0.667000														42			20		0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77850940	77850940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:77850940G>A	uc002ffg.1	+	1	453	c.356G>A	c.(355-357)gGa>gAa	p.G119E		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	119							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						AGCGTGAAAGGATATGAGGTA	0.428000														21			18		0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100868725	100868725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:100868725C>T	uc003pqj.4	-	8	1575	c.1108G>A	c.(1108-1110)Ggg>Agg	p.G370R	SIM1_uc021zdg.1_Missense_Mutation_p.G370R|SIM1_uc010kcu.3_Missense_Mutation_p.G370R	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	370	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GATTTGGCCCCCTTTCTGTTG	0.512000														18			8		0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95186195	95186195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:95186195G>A	uc003ygh.2	-	6	738	c.613C>T	c.(613-615)Cct>Tct	p.P205S	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.P205S	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	205	Cadherin 2.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTATAGGAAGGATTCTTAGCA	0.438000														43			11		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23897768	23897768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:23897768C>T	uc001wjx.3	-	14	1625	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	507	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AATGTCCACTCGATGCCCTCC	0.527000														70			25		0	0	1	0	0
TRIM50	135892	broad.mit.edu	37	7	72727133	72727133	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:72727133G>A	uc003txy.1	-	6	1449	c.1248C>T	c.(1246-1248)ctC>ctT	p.L416L	FKBP6_uc003twz.2_Intron|TRIM50_uc010lbd.1_Silent_p.L416L|TRIM50_uc003txz.1_Silent_p.L415L	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	Homo sapiens tripartite motif containing 50 (TRIM50), mRNA.	416	B30.2/SPRY.					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						AGTGCAGGTAGAGCCCGATGC	0.682000														6			10		0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96354749	96354749	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:96354749G>A	uc004efu.4	+	19	2700	c.2304G>A	c.(2302-2304)aaG>aaA	p.K768K	DIAPH2_uc004eft.4_Silent_p.K768K	NM_006729	NP_006720	O60879	DIAP2_HUMAN	Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.	768	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	Golgi apparatus|cytosol|early endosome|mitochondrion|nucleolus	Rho GTPase binding|receptor binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CAGAGCTTAAGAATGAATATG	0.378000														1			9		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76735624	76735624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:76735624C>T	uc001jwn.1	+	7	2022	c.1529C>T	c.(1528-1530)tCc>tTc	p.S510F	KAT6B_uc001jwm.1_Intron|KAT6B_uc001jwo.1_Intron|KAT6B_uc001jwp.1_Intron	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	510	Negatively regulates HAT activity.|Ser-rich.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										TCACAAAAGTCCAGCACGGCC	0.562000														38			34		0	0	1	0	0
FAM40B	57464	broad.mit.edu	37	7	129093175	129093175	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:129093175C>T	uc011koy.2	+	4	557	c.517C>T	c.(517-519)Cac>Tac	p.H173Y	FAM40B_uc003vow.3_Missense_Mutation_p.H173Y	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	173										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGAGCTACTCCACATGGAAAT	0.512000														40			22		0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50256622	50256622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:50256622C>T	uc001jhf.2	-	5	705	c.676G>A	c.(676-678)Gag>Aag	p.E226K		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	226						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GTGACAGTCTCCCCTGAGCTG	0.483000														28			7		0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50453675	50453675	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:50453675C>T	uc001rvv.3	+	2	725	c.496C>T	c.(496-498)Cga>Tga	p.R166*	ASIC1_uc001rvw.3_Nonsense_Mutation_p.R166*|ASIC1_uc009zln.3_5'UTR|ASIC1_uc009zlo.3_Nonsense_Mutation_p.R166*	NM_020039	NP_064423	P78348	ACCN2_HUMAN	Homo sapiens amiloride-sensitive cation channel 2, neuronal (ACCN2), transcript variant 1, mRNA.	166					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GCACGACATTCGAGACATGCT	0.582000														33			30		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285778	152285778	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152285778C>T	uc001ezu.1	-	2	1620	c.1584G>A	c.(1582-1584)caG>caA	p.Q528Q	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	528	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTGGGATCCCTGCCTTCCTC	0.602000									Ichthyosis					386			229		0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117033355	117033355	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:117033355C>T	uc011mtp.2	-	7	1626	c.1493G>A	c.(1492-1494)gGa>gAa	p.G498E	KLHL13_uc004eqk.3_Missense_Mutation_p.G444E|KLHL13_uc004eql.3_Missense_Mutation_p.G495E|KLHL13_uc011mtn.2_Missense_Mutation_p.G335E|KLHL13_uc011mto.2_Missense_Mutation_p.G489E|KLHL13_uc011mtq.2_Missense_Mutation_p.G479E|KLHL13_uc004eqm.3_Missense_Mutation_p.G453E|KLHL13_uc022cde.1_Missense_Mutation_p.G479E	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	495					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATGAGTAATTCCTCCTAAAGA	0.358000														12			89		0	0	1	0	0
RSPH10B	222967	broad.mit.edu	37	7	6006543	6006543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:6006543C>T	uc003sph.1	-	2	476	c.205G>A	c.(205-207)Gat>Aat	p.D69N	RSPH10B_uc010ktd.1_Missense_Mutation_p.D69N	NM_173565	NP_775836	B2RC85	R10B2_HUMAN	Homo sapiens radial spoke head 10 homolog B (Chlamydomonas) (RSPH10B), mRNA.	69								p.E68K(1)		breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		TGGGTGGCATCTTCGTTCTGC	0.498000														175			38		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934969	30934969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:30934969C>T	uc002nsu.1	+	1	638	c.500C>T	c.(499-501)gCg>gTg	p.A167V	ZNF536_uc010edd.1_Missense_Mutation_p.A167V	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GACCACAGGGCGGCGCAGAAG	0.657000														29			6		0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717442	142717442	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:142717442C>T	uc022cfm.1	-	0	1483	c.1483G>A	c.(1483-1485)Gga>Aga	p.G495R	SLITRK4_uc022cfl.1_Missense_Mutation_p.G495R|SLITRK4_uc004fbx.3_Missense_Mutation_p.G495R|SLITRK4_uc004fby.3_Missense_Mutation_p.G495R	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	495						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGGTGCTCCGGAAAAGATG	0.433000														37			66		0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73357849	73357849	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:73357849A>T	uc001vjc.3	+	1	547	c.242A>T	c.(241-243)tAt>tTt	p.Y81F	PIBF1_uc010aeo.1_Non-coding_Transcript|PIBF1_uc001vjb.3_Missense_Mutation_p.Y81F|PIBF1_uc010aep.3_Intron|DIS3_uc001viy.4_5'Flank|DIS3_uc001vix.4_5'Flank|DIS3_uc001viz.3_5'Flank	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	81						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAAGTGGATTATCTTACAAAG	0.303000														31			16		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111156522	111156522	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:111156522G>A	uc001vqx.3	+	44	4602	c.4313G>A	c.(4312-4314)gGg>gAg	p.G1438E		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1438	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGGAAAGCTGGGCCCCAAGGA	0.607000														20			37		0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10756221	10756221	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:10756221G>A	uc003wtk.1	-	2	1194	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	389						integral to membrane		p.F389F(2)|p.I388I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GAACCACCACGAAGATCCCAA	0.532000														47			21		0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70456521	70456521	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:70456521G>A	uc001vip.3	-	4	1915	c.1121C>T	c.(1120-1122)aCc>aTc	p.T374I	KLHL1_uc010thm.2_Missense_Mutation_p.T313I	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	374					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.E373*(1)|p.E373D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ATGGAAGATGGTTTCTTCATC	0.423000														37			15		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7579756	7579756	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:7579756C>T	uc003mxp.1	+	22	3612	c.3333C>T	c.(3331-3333)atC>atT	p.I1111I	DSP_uc003mxq.1_Silent_p.I1111I|DSP_uc021yle.1_Silent_p.I1111I	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1111	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATGAGAAGATCACCCGACTGA	0.438000														54			7		0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149943100	149943100	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:149943100G>A	uc001etn.3	-	2	521	c.165C>T	c.(163-165)tcC>tcT	p.S55S	OTUD7B_uc001eto.3_Missense_Mutation_p.P21L	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	55					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCTCACTAAAGGATGGGGGTA	0.537000														80			50		0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221331	55221331	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55221331C>T	uc002qgs.1	+	0		c.1731C>T			LILRP2_uc002qgt.1_Intron					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		ACTCTTCTTTCCCTCCAGGCG	0.622000														14			4		0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112926748	112926748	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:112926748C>T	uc003kqn.3	+	26	4038	c.3836C>T	c.(3835-3837)tCt>tTt	p.S1279F		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	1279	Ser-rich.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GGCTCAAAATCTCCTTCGCCA	0.363000														16			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179535837	179535837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179535837C>T	uc021vsy.1	-	150	31610	c.31385G>A	c.(31384-31386)cGa>cAa	p.R10462Q	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R7123Q|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11389	Glu-rich.|Pro-rich.						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)			TGGCTCTTTTCGAGGAACAAC	0.363000														27			9		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480680	10480680	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:10480680G>A	uc003wtc.3	-	1	261	c.32C>T	c.(31-33)cCg>cTg	p.P11L		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	11					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACGGTGGCTCGGGGCCTGGGC	0.642000														57			36		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90468627	90468627	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:90468627A>T	uc003pnn.1	-	17	2629	c.2513T>A	c.(2512-2514)aTt>aAt	p.I838N	MDN1_uc003pno.1_Missense_Mutation_p.I256N	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	838					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGCCAAGTTAATCTCATCCAA	0.413000														10			11		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48703270	48703270	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:48703270G>A	uc001zwx.2	-	65	8928	c.8533C>T	c.(8533-8535)Cta>Tta	p.L2845L	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2845					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTGTCTTCTAGTTGGTTAAGT	0.388000														50			41		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142490449	142490449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:142490449G>A	uc003ywi.2	-	6	931	c.850C>T	c.(850-852)Cct>Tct	p.P284S	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	284							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			ACCTTCTCAGGGGACTGCTCC	0.637000														8			8		0	0	1	0	0
CCDC50	152137	broad.mit.edu	37	3	191092902	191092902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:191092902C>T	uc003fsv.3	+	5	1090	c.500C>T	c.(499-501)cCt>cTt	p.P167L	CCDC50_uc003fsw.3_Intron	NM_178335	NP_848018	Q8IVM0	CCD50_HUMAN	Homo sapiens coiled-coil domain containing 50 (CCDC50), transcript variant 2, mRNA.	163						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TTCTCAAGACCTTGTAGACTC	0.443000														39			10		0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2049799	2049799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:2049799G>A	uc002cof.1	-	10	1766	c.1751C>T	c.(1750-1752)cCc>cTc	p.P584L	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_5'UTR	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	584						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						AACTTTAGAGGGTTGGATGGA	0.667000														12			3		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572456	38572456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:38572456C>T	uc002ohk.3	+	2	760	c.251C>T	c.(250-252)gCc>gTc	p.A84V		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	84					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCAAGGGTGGCCGACTGGCCG	0.706000														24			6		0	0	1	0	0
FAM189A2	9413	broad.mit.edu	37	9	72003127	72003127	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:72003127C>A	uc010mon.1	+	9	1014	c.910C>A	c.(910-912)Ctg>Atg	p.L304M	FAM189A2_uc004ahg.2_Missense_Mutation_p.L304M|FAM189A2_uc010moo.1_Intron	NM_001127608	NP_004807	Q15884	F1892_HUMAN	Homo sapiens family with sequence similarity 189, member A2 (FAM189A2), transcript variant 2, mRNA.	304						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GAGACTGGATCTGGCTGCAGT	0.517000														17			17		4.14922e-12	4.18203e-12	1	1	0
SYK	6850	broad.mit.edu	37	9	93606229	93606230	+	Missense_Mutation	DNP	TT	CA	CA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:93606229_93606230TT>CA	uc004aqz.3	+	1	254_255	c.49_50TT>CA	c.(49-51)ttc>CAc	p.F17H	SYK_uc004ara.3_Missense_Mutation_p.F17H|SYK_uc004arb.3_Missense_Mutation_p.F17H|SYK_uc004arc.3_Missense_Mutation_p.F17H|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	17	SH2 1.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GCCCTTCTTTTTCGGCAACATC	0.629000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									0			9		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032466	21032466	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:21032466C>T	uc010sil.2	+	8	1297	c.1232C>T	c.(1231-1233)tCa>tTa	p.S411L	SLCO1B3_uc001rek.3_Missense_Mutation_p.S411L|SLCO1B3_uc001rel.3_Missense_Mutation_p.S411L|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	411					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GCCAAATTTTCATTTCTTACT	0.358000														36			11		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106653536	106653536	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106653536C>T	uc021ser.1	-	1432		c.28707G>A								Parts of antibodies, mostly variable regions.																		ACTCCAGCCCCTTTCCTGGAG	0.557000														106			108		0	0	1	0	0
DMRT2	10655	broad.mit.edu	37	9	1057090	1057090	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:1057090G>A	uc003zha.3	+	3	1703	c.1503G>A	c.(1501-1503)aaG>aaA	p.K501K	DMRT2_uc003zhb.4_3'UTR|DMRT2_uc003zgy.4_Silent_p.K345K|DMRT2_uc011llt.2_3'UTR|DMRT2_uc022bcw.1_3'UTR|DMRT2_uc011llv.2_Silent_p.K501K	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 2 (DMRT2), transcript variant 3, mRNA.	501					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		AGACCCCTAAGAAACACAGAG	0.383000														3			37		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212777	62212777	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:62212777G>A	uc003xuh.3	+	1	715	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	CLVS1_uc003xug.2_Missense_Mutation_p.E131K|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	131	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CGGGGTGCTGGAAAACCGAGA	0.463000														34			9		0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54148047	54148047	+	Silent	SNP	A	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:54148047A>C	uc002rxp.2	-	17	2297	c.2241T>G	c.(2239-2241)ccT>ccG	p.P747P	PSME4_uc010yop.1_Silent_p.P633P|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Silent_p.P122P|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Silent_p.P732P	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	747					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGTATTCAGAAGGAGGCTTGT	0.378000														161			29		0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016273	27016273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:27016273G>A	uc001mrd.3	+	0	646	c.200G>A	c.(199-201)gGg>gAg	p.G67E		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	Homo sapiens fin bud initiation factor homolog (zebrafish) (FIBIN), mRNA.	67						Golgi apparatus|extracellular region				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						TGCTCCCAGGGGGAGGGGAGC	0.667000														21			4		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130222720	130222720	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:130222720G>A	uc004evz.3	+	11	1950	c.1605G>A	c.(1603-1605)gaG>gaA	p.E535E	ARHGAP36_uc004ewa.3_Silent_p.E523E|ARHGAP36_uc004ewb.3_Silent_p.E504E|ARHGAP36_uc004ewc.3_Silent_p.E399E	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	535					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGCCCCGGGAGAAGGAGGCCA	0.572000														22			21		0	0	1	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118394456	118394456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:118394456G>A	uc001lcq.3	+	9	945	c.922G>A	c.(922-924)Gat>Aat	p.D308N	PNLIPRP2_uc009xyu.1_Non-coding_Transcript|PNLIPRP2_uc009xyv.1_Non-coding_Transcript	NM_005396	NP_005387	P54317	LIPR2_HUMAN	Homo sapiens pancreatic lipase-related protein 2 (PNLIPRP2), mRNA.	308					galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TGCCTCCTACGATGAGTTTCA	0.507000														8			22		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135015131	135015131	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:135015131C>T	uc001llz.1	+	16	3117	c.3116C>T	c.(3115-3117)tCc>tTc	p.S1039F	KNDC1_uc001lma.1_Missense_Mutation_p.S974F|KNDC1_uc001lmb.1_Missense_Mutation_p.S451F	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1039					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCTCAGAGGTCCGTAAAAGCC	0.672000														15			41		0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15073080	15073080	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:15073080G>A	uc002naa.1	-	4	676	c.669C>T	c.(667-669)tcC>tcT	p.S223S	SLC1A6_uc010dzu.1_Silent_p.S223S|SLC1A6_uc010xod.1_Silent_p.S159S|SLC1A6_uc002nab.3_Silent_p.S223S|SLC1A6_uc002nac.3_Silent_p.S223S	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	223					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)	GAGGAGGCATGGAGGCACCCG	0.562000														77			43		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128480142	128480142	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:128480142G>A	uc003vnz.4	+	8	1686	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	FLNC_uc003voa.4_Missense_Mutation_p.E493K	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	493					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCGCGTGAAAGAGGTGGCTGA	0.642000														92			70		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136396	40136396	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:40136396C>T	uc021qgf.1	-	0	1447	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N	LRRC4C_uc001mxc.1_Missense_Mutation_p.D479N|LRRC4C_uc001mxd.1_Missense_Mutation_p.D479N|LRRC4C_uc001mxa.1_Missense_Mutation_p.D483N|LRRC4C_uc001mxb.1_Missense_Mutation_p.D479N	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	483					regulation of axonogenesis	integral to membrane	protein binding	p.D483E(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTCTCCCAGTCGACCACTGGA	0.502000														41			36		0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43924053	43924053	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:43924053C>T	uc010wka.2	+	0	1798	c.1781C>T	c.(1780-1782)cCa>cTa	p.P594L	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	594						integral to membrane	aspartic-type endopeptidase activity										GCCACCAATCCAGAGGACCGC	0.582000														101			19		0	0	1	0	0
AGPAT9	84803	broad.mit.edu	37	4	84516094	84516094	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:84516094C>T	uc003how.3	+	7	1053	c.835C>T	c.(835-837)Cga>Tga	p.R279*	AGPAT9_uc003hox.3_Nonsense_Mutation_p.R279*|AGPAT9_uc003hoy.3_Nonsense_Mutation_p.R279*	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9), transcript variant 1, mRNA.	279					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	p.R279R(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				AATGAAGGATCGACACCTGGT	0.478000														64			80		0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8051106	8051106	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:8051106C>T	uc010qbd.2	+	4	2381	c.2381C>T	c.(2380-2382)aCc>aTc	p.T794I		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	794	Pro-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AGGCCGAAGAccccaccgccg	0.711000														53			34		0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77413025	77413025	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:77413025C>T	uc001oyn.3	-	5	1369	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K	RSF1_uc001oym.3_Missense_Mutation_p.E165K	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	417					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			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)			TGTTTTATTTCATCTTTCAAA	0.358000														51			14		0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890768	55890768	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55890768G>A	uc001nii.1	+	0	920	c.920G>A	c.(919-921)aGa>aAa	p.R307K		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q306L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GTCATGCAGAGAAGACAGGAC	0.348000														73			25		0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56676785	56676785	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:56676785C>T	uc010dcz.2	-	13	2057	c.1939G>A	c.(1939-1941)Gga>Aga	p.G647R	TEX14_uc002iwr.2_Missense_Mutation_p.G641R|TEX14_uc002iws.2_Missense_Mutation_p.G641R|TEX14_uc010dda.2_Missense_Mutation_p.G421R	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	647						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAAGCAGCTCCTGGAGGCTCT	0.498000														55			68		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164716	139164716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:139164716C>T	uc003yuy.3	-	12	2173	c.2002G>A	c.(2002-2004)Gaa>Aaa	p.E668K	FAM135B_uc003yux.3_Missense_Mutation_p.E569K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E230K|FAM135B_uc003yvb.3_Missense_Mutation_p.E230K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	668										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACTGAGAGTTCCTCCTGCTCT	0.527000										HNSCC(54;0.14)				69			20		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192218	152192218	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152192218G>A	uc001ezt.1	-	2	1963	c.1887C>T	c.(1885-1887)acC>acT	p.T629T		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	629					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGACCTGAGGTAGCTCCAT	0.567000														239			222		0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:29625934C>T	uc010ztl.1	+	1	120	c.88C>T	c.(88-90)Cat>Tat	p.H30Y	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338000														59			6		0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85970861	85970861	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:85970861C>T	uc001kcv.3	+	12	1530	c.1425C>T	c.(1423-1425)ctC>ctT	p.L475L	CDHR1_uc001kcw.3_Silent_p.L475L|CDHR1_uc009xst.3_Intron|CDHR1_uc001kcx.3_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	475	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TCGACTCCCTCTACTACGTTG	0.582000														65			23		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179413974	179413974	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179413974G>A	uc021vsy.1	-	287	84900	c.84675C>T	c.(84673-84675)ttC>ttT	p.F28225F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.F21920F|TTN_uc021vta.1_Silent_p.F21853F|TTN_uc021vtb.1_Silent_p.F21728F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29152	Ig-like 131.						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)			CCATGACATGGAATTCATACT	0.453000														30			35		0	0	1	0	0
SPRR2G	6706	broad.mit.edu	37	1	153122441	153122441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:153122441G>A	uc021ozu.1	-	0	146	c.146C>T	c.(145-147)cCa>cTa	p.P49L	SPRR2G_uc009wod.2_Missense_Mutation_p.P49L	NM_001014291	NP_001014313	Q9BYE4	SPR2G_HUMAN	Homo sapiens small proline-rich protein 2G (SPRR2G), mRNA.	49					keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGGCATGGTGGAGGTGGGCA	0.572000														45			63		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37507929	37507929	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:37507929G>A	uc021ppc.1	+	33	3220	c.3121G>A	c.(3121-3123)Gaa>Aaa	p.E1041K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E1041K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1097						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCATGAAAATGAAAATTATCT	0.313000														16			11		0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362802	105362802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:105362802C>T	uc010qqu.1	-	11	1985	c.1918G>A	c.(1918-1920)Gac>Aac	p.D640N	SH3PXD2A_uc010qqr.2_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.D532N|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.D574N|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.D532N|SH3PXD2A_uc001kxj.1_Missense_Mutation_p.D697N	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	725	Ser-rich.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ATGCCTGCGTCCGAAGCAGAG	0.622000														76			29		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73062560	73062560	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:73062560G>A	uc004ebm.1	-	0		c.10029C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		TGGGACCAAGGAAAGTGCAAC	0.468000														16			11		0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43529513	43529513	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:43529513G>A	uc002lbm.3	-	4	1534	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	EPG5_uc002lbo.1_Silent_p.F478F	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	478					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GGTTTAGAAGGAAGAGGTGAT	0.398000														15			9		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864735	13864735	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:13864735A>G	uc003jfd.2	-	27	4409	c.4367T>C	c.(4366-4368)cTt>cCt	p.L1456P		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1456	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)					GGCCCGGGGAAGCTTTCGACA	0.458000									Kartagener syndrome					14			26		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884529	228884529	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:228884529G>A	uc002vpq.2	-	6	1088	c.1041C>T	c.(1039-1041)tcC>tcT	p.S347S	SPHKAP_uc002vpp.2_Silent_p.S347S|SPHKAP_uc010zlx.1_Silent_p.S347S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	347						cytoplasm	protein binding	p.S347T(1)		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)		TATCCATCATGGAGAAATAAG	0.423000														44			14		0	0	1	0	0
APEH	327	broad.mit.edu	37	3	49720298	49720298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:49720298C>T	uc010hkw.1	+	19	2321	c.1921C>T	c.(1921-1923)Cct>Tct	p.P641S	APEH_uc003cxf.3_Missense_Mutation_p.P636S	NM_001640	NP_001631	P13798	ACPH_HUMAN	Homo sapiens N-acylaminoacyl-peptide hydrolase (APEH), mRNA.	636					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCTGGCTTTCCTTTCAGCAG	0.587000														34			16		0	0	1	0	0
GSTO1	9446	broad.mit.edu	37	10	106014984	106014984	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:106014984C>T	uc001kya.3	+	1	317	c.98C>T	c.(97-99)cCg>cTg	p.P33L	GSTO1_uc021pxr.1_Missense_Mutation_p.P5L|GSTO1_uc021pxs.1_Missense_Mutation_p.P33L	NM_004832	NP_001177932	P78417	GSTO1_HUMAN	Homo sapiens glutathione S-transferase omega 1 (GSTO1), transcript variant 1, mRNA.	33	GST N-terminal.				xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)	AGGTTCTGCCCGTTTGCTGAG	0.692000														43			10		0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79411764	79411764	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:79411764C>T	uc002kaf.2	+	6	2397	c.2397C>T	c.(2395-2397)ccC>ccT	p.P799P	BAHCC1_uc002kae.2_Silent_p.P60P	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	861	Pro-rich.						DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			GCCCTGTGCCCTCTGTCTTCC	0.716000														27			20		0	0	1	0	0
C19orf18	147685	broad.mit.edu	37	19	58472862	58472862	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58472862C>T	uc002qqv.3	-	4	531	c.429G>A	c.(427-429)agG>agA	p.R143R		NM_152474	NP_689687	Q8NEA5	CS018_HUMAN	Homo sapiens chromosome 19 open reading frame 18 (C19orf18), mRNA.	143						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		ATAACGGTATCCTGAGGTTCT	0.448000														65			16		0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153503	5153503	+	Missense_Mutation	SNP	G	A	A	rs143161168		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5153503G>A	uc010qyx.2	-	0	370	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCCACATAGCGATCCAGGGCC	0.468000														23			18		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202440	140202440	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140202440G>A	uc003lhl.2	+	0	1080	c.1080G>A	c.(1078-1080)gaG>gaA	p.E360E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.E360E|PCDHAC2_uc003lhj.1_Silent_p.E360E	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	376	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCAAAGAGGACGCTCCAC	0.527000														29			54		0	0	1	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238672098	238672098	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:238672098C>T	uc002vxe.3	+	10	2034	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F	LRRFIP1_uc002vxc.3_Intron|LRRFIP1_uc010znm.2_Intron|LRRFIP1_uc002vxd.3_Missense_Mutation_p.S557F|LRRFIP1_uc002vxf.3_Missense_Mutation_p.S525F	NM_001137552	NP_001131024	Q32MZ4	LRRF1_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 1 (LRRFIP1), transcript variant 3, mRNA.	581	DNA-binding.|Lys-rich.				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		aagaaaaaATCCCCAGTACCC	0.378000														18			10		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683380	100683380	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:100683380G>A	uc003uxp.1	+	2	8736	c.8683G>A	c.(8683-8685)Gat>Aat	p.D2895N	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2895	59 X approximate tandem repeats.|Ser-rich.					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)					AACTCCTGTTGATACCAGCAT	0.478000														162			219		0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39672093	39672093	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:39672093G>A	uc021wjc.1	+	0	910	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	KCNJ15_uc002ywv.3_Missense_Mutation_p.E304K|KCNJ15_uc002yww.3_Missense_Mutation_p.E304K|KCNJ15_uc002ywx.3_Missense_Mutation_p.E304K	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	304					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						TATCCCAGAGGAAATCTACTG	0.463000														34			22		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652704	1652704	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:1652704G>A	uc002qxa.3	-	16	2912	c.2848C>T	c.(2848-2850)Ccc>Tcc	p.P950S		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	950					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTGGCGAAGGGGAGCAGCGGC	0.741000														8			30		0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27414026	27414026	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:27414026G>A	uc002hdt.1	-	37	5798	c.5640C>T	c.(5638-5640)ctC>ctT	p.L1880L	MYO18A_uc010wbc.1_Silent_p.L1413L|MYO18A_uc002hds.2_Silent_p.L1422L|MYO18A_uc010csa.1_Silent_p.L1843L|MYO18A_uc002hdu.1_Silent_p.L1880L	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1880					DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGGTGTCCCGGAGCTGCCTCT	0.622000														55			11		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180056959	180056959	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:180056959G>A	uc003mlz.4	-	4	739	c.660C>T	c.(658-660)ttC>ttT	p.F220F	FLT4_uc003mma.4_Silent_p.F220F|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.2_Silent_p.F220F|FLT4_uc011dgz.1_Silent_p.F220F|FLT4_uc011dha.1_Missense_Mutation_p.S204F	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	220	Ig-like C2-type 3.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.P219T(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGTGCACCAGGAAGGGGTTGG	0.642000														30			9		0	0	1	0	0
STRADB	55437	broad.mit.edu	37	2	202344248	202344248	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:202344248C>A	uc002uyd.4	+	10	1472	c.1107C>A	c.(1105-1107)ttC>ttA	p.F369L	STRADB_uc021vvb.1_Missense_Mutation_p.F369L	NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN	Homo sapiens STE20-related kinase adaptor beta (STRADB), transcript variant 1, mRNA.	369	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						ATGTTTTCTTCAAACAGGTGA	0.303000														24			7		1.76689e-08	1.77552e-08	1	1	0
NFXL1	152518	broad.mit.edu	37	4	47898590	47898590	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:47898590G>A	uc010igh.3	-	9	1456	c.1279C>T	c.(1279-1281)Cat>Tat	p.H427Y	NFXL1_uc003gxp.3_Missense_Mutation_p.H427Y|NFXL1_uc003gxq.4_Non-coding_Transcript|NFXL1_uc010igi.3_Missense_Mutation_p.H427Y	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.	427						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						GAACATCTATGGATTCCGCAT	0.373000														22			11		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11713671	11713671	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:11713671G>A	uc002gne.3	+	44	8760	c.8692G>A	c.(8692-8694)Gat>Aat	p.D2898N	DNAH9_uc010coo.3_Missense_Mutation_p.D2192N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2898	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTCATCAATGATCTTTTGGC	0.468000														69			15		0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109862585	109862585	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:109862585G>A	uc010sxn.1	+	15	1629	c.1629G>A	c.(1627-1629)agG>agA	p.R543R		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TTATCCTGAGGGAATGCTTCC	0.507000														39			7		0	0	1	0	0
ZNF554	115196	broad.mit.edu	37	19	2834605	2834605	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:2834605C>T	uc002lwm.2	+	4	1570	c.1372C>T	c.(1372-1374)Cac>Tac	p.H458Y	ZNF554_uc002lwl.2_Missense_Mutation_p.H407Y	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		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)		CGAGCGAACTCACACGGGCGA	0.547000														22			15		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9438107	9438107	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:9438107C>T	uc021wam.1	+	29	3022	c.3007C>T	c.(3007-3009)Cag>Tag	p.Q1003*	PLCB4_uc010gbw.1_Nonsense_Mutation_p.Q1003*|PLCB4_uc010gbx.3_Nonsense_Mutation_p.Q1015*|PLCB4_uc021wal.1_Nonsense_Mutation_p.Q1003*|PLCB4_uc002wnh.3_Nonsense_Mutation_p.Q850*	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	1003					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AATCAAAATTCAGACGCTGAC	0.353000														33			26		0	0	1	0	0
KLRC2	3822	broad.mit.edu	37	12	10586473	10586473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:10586473C>T	uc001qyk.2	-	3	407	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	KLRC2_uc001qyh.3_Intron|KLRC2_uc010she.1_Missense_Mutation_p.E134K	NM_002260	NP_002251	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 2 (KLRC2), mRNA.	134	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						GTTCTTCTTTCCTTACCAATG	0.368000														38			27		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56477621	56477621	+	Silent	SNP	C	T	T	rs61740147	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56477621C>T	uc002qmh.3	+	4	2327	c.2256C>T	c.(2254-2256)atC>atT	p.I752I	NLRP8_uc010etg.3_Silent_p.I752I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	752						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGGACTTAATCGGTGTTTTGA	0.502000														65			42		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71205035	71205035	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:71205035C>T	uc001xmm.3	-	7	1771	c.1771G>A	c.(1771-1773)Gcc>Acc	p.A591T	MAP3K9_uc010ttk.2_Missense_Mutation_p.A328T|MAP3K9_uc001xmk.3_Missense_Mutation_p.A333T|MAP3K9_uc001xml.3_Missense_Mutation_p.A591T	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	591					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TTCTTTGGGGCCCTCTTCTCC	0.567000														68			30		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35835204	35835204	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:35835204C>T	uc011axy.2	+	18	2408	c.2196C>T	c.(2194-2196)acC>acT	p.T732T	ARPP21_uc003cga.3_Silent_p.T712T|ARPP21_uc003cgb.3_Silent_p.T731T|ARPP21_uc003cgf.3_Silent_p.T567T|ARPP21_uc003cgg.3_Silent_p.T254T	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	731	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TGCCAATGACCCAGGGTTCTC	0.458000														56			17		0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648036	130648036	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:130648036G>A	uc001uii.3	+	0	1033	c.549G>A	c.(547-549)aaG>aaA	p.K183K	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	183					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		ACCCGCTGAAGGAcgggggcc	0.766000														24			8		0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92251571	92251571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:92251571C>T	uc001xzu.4	-	10	1488	c.1297G>A	c.(1297-1299)Gaa>Aaa	p.E433K	TC2N_uc001xzt.4_Missense_Mutation_p.E433K|TC2N_uc010auc.3_Missense_Mutation_p.E369K|TC2N_uc001xzv.4_Missense_Mutation_p.E433K	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	433	C2.					nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		AAAACAATTTCTTTTTCACTC	0.363000														151			43		0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58510269	58510269	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:58510269G>A	uc003dkl.3	-	10	1585	c.1410C>T	c.(1408-1410)ctC>ctT	p.L470L		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.	470					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CAGATGGAGAGAGAGATCTCT	0.627000														28			46		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2717743	2717743	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:2717743G>A	uc009zdu.1	+	27	3796	c.3483G>A	c.(3481-3483)gaG>gaA	p.E1161E	CACNA1C_uc001qkc.2_Silent_p.E1141E|CACNA1C_uc001qjz.2_Silent_p.E1141E|CACNA1C_uc001qkd.2_Silent_p.E1141E|CACNA1C_uc001qke.2_Silent_p.E1141E|CACNA1C_uc001qkf.2_Silent_p.E1141E|CACNA1C_uc009zdw.1_Silent_p.E1141E|CACNA1C_uc001qkg.2_Silent_p.E1141E|CACNA1C_uc001qkh.2_Silent_p.E1141E|CACNA1C_uc001qkl.2_Silent_p.E1161E|CACNA1C_uc001qkj.2_Silent_p.E1141E|CACNA1C_uc001qkk.2_Silent_p.E1141E|CACNA1C_uc001qkn.2_Silent_p.E1141E|CACNA1C_uc001qkm.2_Silent_p.E1141E|CACNA1C_uc001qko.2_Silent_p.E1161E|CACNA1C_uc001qkp.2_Silent_p.E1141E|CACNA1C_uc001qkq.2_Silent_p.E1141E|CACNA1C_uc001qku.2_Silent_p.E1141E|CACNA1C_uc001qkr.2_Silent_p.E1141E|CACNA1C_uc001qks.2_Silent_p.E1141E|CACNA1C_uc001qkt.2_Silent_p.E1141E|CACNA1C_uc009zdv.1_Silent_p.E1138E|CACNA1C_uc001qkb.2_Silent_p.E1141E|CACNA1C_uc001qka.1_Silent_p.E676E|CACNA1C_uc001qki.1_Silent_p.E877E	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1161	Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ACCGTGTGGAGatctccatct	0.542000														13			3		0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7755556	7755556	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:7755556G>A	uc002gix.3	+	8	3113	c.2276G>A	c.(2275-2277)cGa>cAa	p.R759Q	KDM6B_uc002giw.1_Missense_Mutation_p.R1457Q|TMEM88_uc002giy.3_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	1457	Pro-rich.|Thr-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TTCGTGCAGCGACCCGGAGAC	0.612000											OREG0024145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			46		0	0	1	0	0
ACP6	51205	broad.mit.edu	37	1	147131132	147131132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:147131132G>A	uc001epr.2	-	3	966	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	ACP6_uc009wjj.1_Missense_Mutation_p.R125W	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.	168					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					TCCAGATTCCGAAAAATGTTA	0.413000														153			26		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85407716	85407716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:85407716C>T	uc002ble.3	+	11	5316	c.5149C>T	c.(5149-5151)Cca>Tca	p.P1717S	ALPK3_uc010upc.2_Missense_Mutation_p.P18S	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1717	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AAACAATATCCCATATGCTAC	0.542000														89			17		0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737626	248737626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248737626C>T	uc001iep.1	-	0	433	c.433G>A	c.(433-435)Gtg>Atg	p.V145M		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCTGGCACACCCTCTGGTTC	0.547000														41			18		0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132047123	132047123	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:132047123G>A	uc010htp.2	+	1	223	c.133G>A	c.(133-135)Gga>Aga	p.G45R	ACPP_uc003eon.3_Missense_Mutation_p.G45R|ACPP_uc003eop.4_Missense_Mutation_p.G45R	NM_001099	NP_001090	P15309	PPAP_HUMAN	Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 1, mRNA.	45						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GTTTCGGCATGGAGACCGAAG	0.438000														49			13		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657991	143657991	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:143657991G>A	uc003wds.1	+	0	972	c.928G>A	c.(928-930)Ggg>Agg	p.G310R		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					GAAATTCTCTGGGTTAACATC	0.433000														36			10		0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	63633277	63633277	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:63633277G>A	uc002jfl.3	-	25	3048	c.2829C>T	c.(2827-2829)atC>atT	p.I943I	CEP112_uc010deo.3_Silent_p.I614I|CEP112_uc002jfm.3_Silent_p.I943I|CEP112_uc010dep.2_Silent_p.I901I|AXIN2_uc010den.1_5'UTR|CEP112_uc002jfk.3_Silent_p.I199I	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	Homo sapiens centrosomal protein 112kDa (CEP112), transcript variant 1, mRNA.	943						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CTTCCTGAAGGATGGAAGCTC	0.433000														29			24		0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84586074	84586074	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:84586074C>T	uc004eer.2	-	6	881	c.735G>A	c.(733-735)caG>caA	p.Q245Q	POF1B_uc004ees.3_Silent_p.Q245Q	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	245							actin binding	p.Q245H(2)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GGCCATCATCCTGAATTATCA	0.348000														13			9		0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58574710	58574710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:58574710G>A	uc002ybe.3	+	13	2400	c.2089G>A	c.(2089-2091)Gga>Aga	p.G697R	CDH26_uc002ybf.1_Missense_Mutation_p.G277R|CDH26_uc010zzy.2_Non-coding_Transcript|CDH26_uc002ybh.3_Missense_Mutation_p.G30R|CDH26_uc002ybi.3_Missense_Mutation_p.G30R	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	697					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ACCCACGCAGGGAGTTAAGGT	0.517000														76			13		0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88419742	88419742	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:88419742C>T	uc010qmk.1	+	6	1151	c.924C>T	c.(922-924)atC>atT	p.I308I	OPN4_uc001kdp.3_Silent_p.I308I|OPN4_uc001kdq.3_Silent_p.I297I|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	297					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						TGGCCAAGATCATGCTGCTGG	0.622000														21			45		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476483	140476483	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140476483C>T	uc003lil.3	+	0	2247	c.2109C>T	c.(2107-2109)ttC>ttT	p.F703F	PCDHB2_uc003lim.1_Silent_p.F364F	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	703					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCGCTCTTCCTCTTCTCGG	0.706000														52			109		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39875835	39875835	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:39875835G>A	uc001zkh.3	+	3	824	c.645G>A	c.(643-645)gtG>gtA	p.V215V		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	215	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TGCAGAATGTGAGGTTTGTCT	0.532000											OREG0023051	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		106			44		0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098195	144098195	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:144098195C>T	uc022aoj.1	-	3	788	c.788G>A	c.(787-789)gGg>gAg	p.G263E		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	263					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TTCCGGGGGCCCCTGCTTGTG	0.572000														24			11		0	0	1	0	0
CLPS	1208	broad.mit.edu	37	6	35764997	35764997	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:35764997C>T	uc003ole.2	-	0	125	c.69G>A	c.(67-69)ggG>ggA	p.G23G	CLPS_uc021yyz.1_5'UTR|CLPS_uc003olf.2_Silent_p.G23G	NM_001832	NP_001823	P04118	COL_HUMAN	Homo sapiens colipase, pancreatic (CLPS), transcript variant 1, mRNA.	23					lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region		p.R22R(1)		large_intestine(2)|lung(2)|prostate(1)	5						TGATAATGATCCCCCGGGGGC	0.592000														95			11		0	0	1	0	0
NEU3	10825	broad.mit.edu	37	11	74716749	74716749	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:74716749A>G	uc001ovw.3	+	2	754	c.598A>G	c.(598-600)Atc>Gtc	p.I200V	NEU3_uc001ovv.3_Missense_Mutation_p.I190V|NEU3_uc010rrl.2_Missense_Mutation_p.I91V	NM_006656	NP_006647	A8K327	A8K327_HUMAN	Homo sapiens sialidase 3 (membrane sialidase) (NEU3), mRNA.	200										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						AGGTCATGGCATCCAGCTGCA	0.537000														76			53		0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31655934	31655934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:31655934C>T	uc003akh.3	+	4	567	c.422C>T	c.(421-423)tCt>tTt	p.S141F	LIMK2_uc003aki.3_Intron|LIMK2_uc003akj.3_Missense_Mutation_p.S120F|LIMK2_uc003akk.3_Missense_Mutation_p.S120F|LIMK2_uc011aln.2_Missense_Mutation_p.S58F	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	141						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TCCACAGAGTCTGTTCAGGAG	0.607000														51			21		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107863562	107863562	+	Silent	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:107863562A>G	uc022ccg.1	+	30	2785	c.2583A>G	c.(2581-2583)gaA>gaG	p.E861E	COL4A5_uc004enz.1_Silent_p.E861E|COL4A5_uc004eob.1_Silent_p.E469E	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	861	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCCCAGGTGAAAGAGGCAGTC	0.502000									Alport syndrome with Diffuse Leiomyomatosis					4			48		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809378	18809378	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:18809378G>A	uc001bax.3	+	0	1955	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K	KLHDC7A_uc009vpg.3_Missense_Mutation_p.E417K	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	635						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)		GCGTGCCAAGGAAATCTTCGT	0.711000														10			15		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10315753	10315753	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10315753C>T	uc002gmm.2	-	13	1445	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	450	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTTGGTGTCCAGCTGCTGGT	0.488000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					156			63		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947165	237947165	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:237947165G>A	uc001hyl.1	+	89	12273	c.12153G>A	c.(12151-12153)gcG>gcA	p.A4051A	RYR2_uc010pya.2_Silent_p.A466A	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4051	EF-hand.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.E4051D(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCCACAAAGCGATGGAGAGCC	0.443000														19			24		0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47503917	47503917	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:47503917C>T	uc010ekv.3	+	5	4472	c.4472C>T	c.(4471-4473)tCc>tTc	p.S1491F		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	1491	Pro-rich.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CTGCTTCCCTCCCAGCTTCAA	0.627000														5			4		0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83319409	83319409	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:83319409C>T	uc004eej.2	-	22	2149	c.2113_splice	c.e22-1	p.G705_splice	RPS6KA6_uc011mqt.2_Splice_Site_p.G705_splice|RPS6KA6_uc011mqu.2_Splice_Site_p.G602_splice	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	705					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AACCATTGCTCCCTAAAGTAA	0.393000														0			11		0	0	1	0	0
C20orf118	140711	broad.mit.edu	37	20	35504603	35504603	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:35504603C>T	uc002xgg.1	+	0	34	c.26C>T	c.(25-27)aCt>aTt	p.T9I	C20orf118_uc021wcz.1_Missense_Mutation_p.T9I	NM_080628	NP_542195	A0PJX2	CT118_HUMAN	Homo sapiens chromosome 20 open reading frame 118 (C20orf118), mRNA.	9										kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	9		Myeloproliferative disorder(115;0.00874)				TGGCGTTACACTCGGCTGGTA	0.632000														82			27		0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140611623	140611623	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:140611623G>A	uc011mfc.2	+	2	668	c.631G>A	c.(631-633)Gtc>Atc	p.V211I	EHMT1_uc004coa.3_Missense_Mutation_p.V211I|EHMT1_uc004cob.1_Missense_Mutation_p.V180I	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	211					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCCGAAGTCCGTCGTGGGCCT	0.547000														13			9		0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61835086	61835086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:61835086G>A	uc002yeh.3	-	3	500	c.206C>T	c.(205-207)tCc>tTc	p.S69F	YTHDF1_uc011aaq.2_Missense_Mutation_p.S19F	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	69										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CTCATTGAGGGAGTAAGGAAA	0.512000														89			10		0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56099122	56099122	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:56099122A>C	uc010giw.1	-	1	251	c.140T>G	c.(139-141)tTg>tGg	p.L47W	CTCFL_uc010gix.1_Missense_Mutation_p.L47W|CTCFL_uc002xym.2_Missense_Mutation_p.L47W|CTCFL_uc010gjb.1_Missense_Mutation_p.L47W|CTCFL_uc010gja.1_Missense_Mutation_p.L47W|CTCFL_uc010gjc.1_Missense_Mutation_p.L47W|CTCFL_uc010gjd.1_Missense_Mutation_p.L47W|CTCFL_uc010gje.3_Missense_Mutation_p.L47W|CTCFL_uc010gjg.3_Intron|CTCFL_uc010gjf.3_Intron|CTCFL_uc010gjh.2_Missense_Mutation_p.L47W|CTCFL_uc010gji.2_Intron|CTCFL_uc010gjj.2_Missense_Mutation_p.L47W|CTCFL_uc021wfe.1_Missense_Mutation_p.L47W|CTCFL_uc021wff.1_Intron|CTCFL_uc021wfg.1_Intron|CTCFL_uc010gjk.1_Missense_Mutation_p.L47W|CTCFL_uc010gjl.1_Missense_Mutation_p.L47W	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	47					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.L47L(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTCGGCCTCCAACTCACTAGG	0.572000														285			93		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2969694	2969694	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:2969694C>T	uc003smv.3	-	11	1919	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	529					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GTGCCTTCTTCCTCGTGCCCC	0.622000			Mis		DLBCL									81			28		0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159170697	159170697	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:159170697G>A	uc001ftl.2	+	8	1361	c.1182G>A	c.(1180-1182)aaG>aaA	p.K394K	CADM3_uc001ftk.2_Silent_p.K428K|LOC100131825_uc001ftm.2_Non-coding_Transcript	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	394					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					ACGACAAGAAGGAATATTTCA	0.617000														103			19		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10433391	10433392	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10433391_10433392CC>TT	uc010coi.3	-	23	2826	c.2698_splice	c.e23-1	p.E900_splice	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Splice_Site_p.E900_splice|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	900					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTTCGGCTTCCTTAAGTTGGA	0.386000														76			22		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128330329	128330329	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:128330329C>T	uc003qbk.3	-	13	2643	c.2276G>A	c.(2275-2277)gGa>gAa	p.G759E	PTPRK_uc010kfc.3_Missense_Mutation_p.G760E|PTPRK_uc003qbj.3_Missense_Mutation_p.G760E|PTPRK_uc011ebu.2_Missense_Mutation_p.G760E|PTPRK_uc003qbl.1_Missense_Mutation_p.G630E|PTPRK_uc011ebv.1_Missense_Mutation_p.G760E	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	759					cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CACCAAAATTCCAGCACTAAT	0.408000														47			11		0	0	1	0	0
NBPF22P	285622	broad.mit.edu	37	5	85578736	85578736	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:85578736C>T	uc003kiq.2	+	0	475	c.213C>T	c.(211-213)tcC>tcT	p.S71S						Homo sapiens neuroblastoma breakpoint family, member 22, pseudogene (NBPF22P), non-coding RNA.																		CTGCCTACTCCCTGGCCAACC	0.433000														7			4		0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12144533	12144533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:12144533G>A	uc001atq.3	+	1	298	c.76G>A	c.(76-78)Gag>Aag	p.E26K	TNFRSF8_uc010obc.2_Intron	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	26					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		TCGACCCTTCGAGGACACCTG	0.612000														8			56		0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78011029	78011029	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:78011029C>T	uc022bzj.1	+	0	663	c.663C>T	c.(661-663)gtC>gtT	p.V221V	LPAR4_uc010nme.3_Silent_p.V221V	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	221						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TATTGAATGTCTCTTGCTCTT	0.378000														1			24		0	0	1	0	0
LRRC56	115399	broad.mit.edu	37	11	551954	551954	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:551954G>A	uc010qvz.2	+	10	1530	c.1025G>A	c.(1024-1026)aGg>aAg	p.R342K		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.	342										kidney(1)|lung(4)|skin(1)	6		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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGGGAGCGTAGGCACCAGTGC	0.687000														30			7		0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46268361	46268361	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:46268361C>T	uc002xtk.3	+	14	3009	c.2748C>T	c.(2746-2748)tcC>tcT	p.S916S	NCOA3_uc002xtl.3_Silent_p.S916S|NCOA3_uc002xtn.3_Silent_p.S916S|NCOA3_uc010ght.2_Intron|NCOA3_uc002xtm.3_Silent_p.S916S|NCOA3_uc010zyc.2_Silent_p.S711S	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	916					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AGACTCCTTCCTCAGGAGACT	0.428000														116			37		0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24731284	24731284	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:24731284G>A	uc001wod.3	-	1	399	c.275C>T	c.(274-276)tCc>tTc	p.S92F	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	92	Membrane anchorage region.				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GCTGCCCCGGGATACAGGCCG	0.637000														83			19		0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22142976	22142976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:22142976G>A	uc010vbq.2	+	18	1894	c.1798G>A	c.(1798-1800)Gac>Aac	p.D600N	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.D608N	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	600	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)		TGTGGAAGTAGACTTCAAGGA	0.617000														6			9		0	0	1	0	0
NEFL	4747	broad.mit.edu	37	8	24811137	24811137	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:24811137G>A	uc003xee.3	-	2	1444	c.1342C>T	c.(1342-1344)Caa>Taa	p.Q448*		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	448	Tail, subdomain B (acidic).|Tail.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TGCTCCTCTTGGACATGGCTG	0.587000														44			53		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129286603	129286603	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:129286603C>T	uc003emx.2	-	20	4011	c.3911G>A	c.(3910-3912)tGg>tAg	p.W1304*	PLXND1_uc011blb.1_5'Flank|U7_uc021xdx.1_5'Flank	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1304					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CGTCTTCTGCCAGTAACGCTC	0.587000														8			18		0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154492803	154492804	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:154492803_154492804GG>AA	uc009wow.3	+	4	1003_1004	c.165_166GG>AA	c.(163-168)aaggac>aaAAac	p.D56N	TDRD10_uc001ffd.3_Missense_Mutation_p.D56N|TDRD10_uc001ffe.3_5'Flank	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	56	RRM.						RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACCTTCTAAAGGACTTCAACCC	0.436000														39			31		0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1080683	1080683	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:1080683G>A	uc002lqz.1	+	15	2146	c.1915G>A	c.(1915-1917)Gac>Aac	p.D639N	HMHA1_uc010xgd.1_Missense_Mutation_p.D655N|HMHA1_uc010xge.1_Missense_Mutation_p.D507N|HMHA1_uc002lra.1_Missense_Mutation_p.D479N|HMHA1_uc002lrb.1_Missense_Mutation_p.D522N|HMHA1_uc002lrc.1_Missense_Mutation_p.D274N	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	639					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CCGCCCAGGGGACTTTAAGAA	0.632000														22			17		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279971	152279971	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152279971C>T	uc001ezu.1	-	2	7427	c.7391G>A	c.(7390-7392)gGa>gAa	p.G2464E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2464	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCGGGTGTCCATGAATGGT	0.577000									Ichthyosis					568			84		0	0	1	0	0
CHODL	140578	broad.mit.edu	37	21	19629035	19629035	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:19629035G>A	uc002ykv.3	+	1	680	c.289G>A	c.(289-291)Ggt>Agt	p.G97S	CHODL_uc002ykr.3_Missense_Mutation_p.G56S|CHODL_uc002yks.3_Missense_Mutation_p.G56S|CHODL_uc021whr.1_Missense_Mutation_p.G56S|CHODL_uc002ykt.3_Missense_Mutation_p.G56S|CHODL_uc002yku.3_Missense_Mutation_p.G56S|CHODL_uc021whs.1_Missense_Mutation_p.G78S	NM_024944	NP_001191105	Q9H9P2	CHODL_HUMAN	Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA.	97	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding	p.G97C(2)		kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		GATTTCTGATGGTGATTTCTG	0.498000														80			27		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	124097545	124097545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:124097545C>T	uc010nqy.3	-	0	122	c.58G>A	c.(58-60)Gat>Aat	p.D20N	ODZ1_uc011muj.2_Missense_Mutation_p.D20N|ODZ1_uc004euj.3_Missense_Mutation_p.D20N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	20	Teneurin N-terminal.				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						TAAGCTAGATCCATTTCATGC	0.443000														64			47		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179474868	179474868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179474868C>T	uc021vsy.1	-	219	43906	c.43681G>A	c.(43681-43683)Gga>Aga	p.G14561R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G8256R|TTN_uc021vta.1_Missense_Mutation_p.G8189R|TTN_uc021vtb.1_Missense_Mutation_p.G8064R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15488	Fibronectin type-III 5.						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)			TATTCTCCTCCACCAACCTTG	0.403000														40			39		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24535346	24535346	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:24535346C>T	uc003jgr.2	-	4	1195	c.689G>A	c.(688-690)aGa>aAa	p.R230K	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	230	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTATTGCTCTCTGTTTTCTCT	0.423000										HNSCC(23;0.051)				42			12		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039900	31039900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:31039900G>A	uc002nsu.1	+	3	3512	c.3374G>A	c.(3373-3375)gGg>gAg	p.G1125E	ZNF536_uc010edd.1_Missense_Mutation_p.G1125E	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GTTGGCTCAGGGGCCTCCAGT	0.547000														23			35		0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101483990	101483990	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:101483990C>T	uc003dvk.1	+	10	2220	c.2193C>T	c.(2191-2193)tcC>tcT	p.S731S	CEP97_uc011bhf.1_Silent_p.S672S|CEP97_uc003dvl.1_Silent_p.S453S|CEP97_uc003dvm.1_Silent_p.S569S	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	731	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GTGAAAGCTCCATAATGGGGA	0.388000														37			11		0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126132958	126132959	+	Missense_Mutation	DNP	CC	TT	TT	rs146158114		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:126132958_126132959CC>TT	uc004bnx.1	+	6	1718_1719	c.1626_1627CC>TT	c.(1624-1629)gcccgg>gcTTgg	p.R543W	CRB2_uc004bnw.1_Missense_Mutation_p.R543W	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	543	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GCTGCCCTGCCCGGCTCTGTGT	0.668000														3			42		0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158687515	158687515	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:158687515G>A	uc021pbn.1	-	0	391	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					ATTTGATAGCGAAGAGGGTTG	0.493000														135			36		0	0	1	0	0
ZNF429	353088	broad.mit.edu	37	19	21713414	21713414	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:21713414C>T	uc002nqd.1	+	2	291	c.154C>T	c.(154-156)Cta>Tta	p.L52L	ZNF429_uc010ecu.2_Silent_p.L52L	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	Homo sapiens zinc finger protein 429 (ZNF429), mRNA.	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TAAGCCAGACCTAATCACTTG	0.368000														22			13		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17100582	17100582	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:17100582C>T	uc002nfb.3	-	13	1440	c.1408_splice	c.e13-1	p.T470_splice		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	423						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TCACCTTGGTCTGAGAAGAGA	0.582000														24			9		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166963247	166963247	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:166963247C>T	uc003irh.2	+	10	1977	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	TLL1_uc011cjn.2_Missense_Mutation_p.R444C|TLL1_uc011cjo.2_Missense_Mutation_p.R268C	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	444	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R444C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GATTGAGTTTCGTAGCAGCAG	0.368000														44			43		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137125	40137125	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:40137125G>A	uc021qgf.1	-	0	718	c.718C>T	c.(718-720)Cag>Tag	p.Q240*	LRRC4C_uc001mxc.1_Nonsense_Mutation_p.Q236*|LRRC4C_uc001mxd.1_Nonsense_Mutation_p.Q236*|LRRC4C_uc001mxa.1_Nonsense_Mutation_p.Q240*|LRRC4C_uc001mxb.1_Nonsense_Mutation_p.Q236*	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	240					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATCAAACCCTGGAAAGAGCCA	0.458000														71			10		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196695995	196695995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:196695995G>A	uc001gtj.4	+	13	2401	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	721	Sushi 12.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAATTGCTCAGAATCATTTAC	0.433000														93			15		0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372970	24372970	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:24372970G>A	uc002dmf.3	+	3	1936	c.734G>A	c.(733-735)cGa>cAa	p.R245Q		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	245					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R245*(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CCCAGATCCCGAGACCTGTCC	0.582000														30			15		0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233839559	233839559	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:233839559C>T	uc002vts.2	-	1	290	c.42G>A	c.(40-42)agG>agA	p.R14R		NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.	14	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|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	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TTGCTGATTTCCTCCGGGTCT	0.458000														59			25		0	0	1	0	0
OOEP	441161	broad.mit.edu	37	6	74079008	74079008	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:74079008G>A	uc003pgu.4	-	1	291	c.291C>T	c.(289-291)ttC>ttT	p.F97F	OOEP_uc003pgv.4_Silent_p.F42F	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN	Homo sapiens oocyte expressed protein homolog (dog) (OOEP), mRNA.	97	KH; atypical.					cytoplasm		p.F97F(2)		large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						GGGGCCGCCCGAAAACGGTGA	0.567000														17			9		0	0	1	0	0
QRFPR	84109	broad.mit.edu	37	4	122257993	122257993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:122257993C>T	uc010inj.1	-	2	909	c.530G>A	c.(529-531)gGa>gAa	p.G177E	QRFPR_uc010ink.1_Non-coding_Transcript|QRFPR_uc003ids.2_Missense_Mutation_p.G177E	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	Homo sapiens pyroglutamylated RFamide peptide receptor (QRFPR), mRNA.	177						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						CATGGGTGATCCTACGATGAC	0.393000														239			37		0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145533450	145533450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:145533450C>T	uc001eoa.3	+	11	1409	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	ITGA10_uc010oyv.2_Missense_Mutation_p.R314C|ITGA10_uc009wiw.3_Missense_Mutation_p.R302C|ITGA10_uc010oyw.2_Missense_Mutation_p.R390C	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	445					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGGTGGACGCCGCCTGTTTCT	0.522000														97			90		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32996150	32996150	+	Silent	SNP	C	T	T	rs140301552		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:32996150C>T	uc001rlj.4	-	5	1591	c.1476G>A	c.(1474-1476)acG>acA	p.T492T	PKP2_uc001rlk.4_Intron|PKP2_uc010skj.2_Intron	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	492					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ctcctgacctcgtgatccgcc	0.547000														8			13		0	0	1	0	0
ZNF597	146434	broad.mit.edu	37	16	3487421	3487421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:3487421G>A	uc002cvd.3	-	3	462	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	Homo sapiens zinc finger protein 597 (ZNF597), mRNA.	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						ATCCTCAGAGGATTTTTCTGG	0.443000														31			44		0	0	1	0	0
ITFG3	83986	broad.mit.edu	37	16	304634	304634	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:304634C>T	uc002cgf.3	+	2	417	c.222C>T	c.(220-222)gaC>gaT	p.D74D	LUC7L_uc021szo.1_Intron|ITFG3_uc010bqr.2_Intron|ITFG3_uc002cgg.2_Silent_p.D74D|ITFG3_uc010uud.1_Non-coding_Transcript|ITFG3_uc002cgh.3_Silent_p.D74D	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA.	74						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CGTGTCCAGACCGGCCGGCGT	0.602000														108			50		0	0	1	0	0
GLUD1	2746	broad.mit.edu	37	10	88836409	88836409	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:88836409G>A	uc001keh.3	-	1	700	c.450C>T	c.(448-450)atC>atT	p.I150I	GLUD1_uc001keg.3_5'UTR|GLUD1_uc010qmp.2_Silent_p.I17I	NM_005271	NP_005262	P00367	DHE3_HUMAN	Homo sapiens glutamate dehydrogenase 1 (GLUD1), nuclear gene encoding mitochondrial protein, mRNA.	150					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|GTP binding|NAD+ binding|glutamate dehydrogenase|glutamate dehydrogenase activity|identical protein binding|leucine binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	TGCTGTAACGGATACCTGGTG	0.398000														35			19		0	0	1	0	0
ZNF391	346157	broad.mit.edu	37	6	27368071	27368071	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:27368071G>A	uc003njf.1	+	3	441	c.-77_splice	c.e3-1		ZNF391_uc021ypw.1_5'Flank	NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN	Homo sapiens zinc finger protein 391 (ZNF391), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						ATGTCTTTCAGATAGGGGGAT	0.383000														32			19		0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	162683585	162683585	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:162683585C>T	uc021zhu.1	-	3	616	c.525G>A	c.(523-525)agG>agA	p.R175R	PARK2_uc003qtv.4_Non-coding_Transcript|PARK2_uc003qtw.4_5'UTR|PARK2_uc010kkd.3_Intron|PARK2_uc003qtx.4_Silent_p.R128R|PARK2_uc021zhs.1_Silent_p.R128R|PARK2_uc021zht.1_Intron|PARK2_uc003qty.4_Silent_p.R128R|PARK2_uc003qtz.4_Intron|PARK2_uc021zhv.1_Silent_p.R49R|PARK2_uc021zhw.1_5'UTR|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Silent_p.R128R|PARK2_uc010kke.1_Silent_p.R128R	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	128					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GTGAGTCCTTCCTGCTGTCAG	0.532000														20			13		0	0	1	0	0
DUSP13	51207	broad.mit.edu	37	10	76857622	76857622	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:76857622C>T	uc001jwr.3	-	1	84	c.21G>A	c.(19-21)caG>caA	p.Q7Q	DUSP13_uc001jws.3_3'UTR|DUSP13_uc001jwu.3_Silent_p.Q100Q|DUSP13_uc001jww.3_Silent_p.Q57Q|DUSP13_uc009xrs.3_Silent_p.Q100Q|DUSP13_uc001jwt.3_Silent_p.Q100Q|DUSP13_uc001jwv.3_Silent_p.Q7Q	NM_016364	NP_057448	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 6, mRNA.	0						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TCCGGAGGTCCTGCTTCTGCA	0.642000														20			7		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270215	1270215	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:1270215G>A	uc002cks.3	+	34	6531	c.6283G>A	c.(6283-6285)Gac>Aac	p.D2095N	CACNA1H_uc002ckt.3_Missense_Mutation_p.D2089N|CACNA1H_uc002cku.3_Missense_Mutation_p.D790N|CACNA1H_uc010brj.3_Missense_Mutation_p.D806N|CACNA1H_uc002ckv.3_Missense_Mutation_p.D784N	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2095					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CGAGGCCTCGGACCCAGCCGA	0.746000														12			12		0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95384481	95384481	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:95384481G>A	uc003ygk.3	-	14	2781	c.2650C>T	c.(2650-2652)Ctt>Ttt	p.L884F	RAD54B_uc010may.2_Missense_Mutation_p.L700F	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	231					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GGATCTGTAAGATTTAAATGA	0.363000								Direct reversal of damage;Homologous recombination						24			12		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062066	9062066	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9062066G>A	uc002mkp.3	-	2	25584	c.25380C>T	c.(25378-25380)tcC>tcT	p.S8460S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8462	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S8460Y(1)		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						GCCCTGACATGGATGTTCCCC	0.507000														97			36		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169227849	169227849	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:169227849T>A	uc003irp.3	-	4	579	c.287A>T	c.(286-288)aAc>aTc	p.N96I		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	96							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTCAGGGAAGTTGAAATACGC	0.348000														35			26		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215848027	215848027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:215848027G>A	uc001hku.1	-	62	13613	c.13226C>T	c.(13225-13227)tCc>tTc	p.S4409F		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4409	Fibronectin type-III 29.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGCAGGTGGGAAACCAGCAG	0.483000										HNSCC(13;0.011)				75			16		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26176129	26176129	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:26176129C>T	uc003abz.1	+	8	2425	c.2175C>T	c.(2173-2175)ttC>ttT	p.F725F	MYO18B_uc003aca.1_Silent_p.F606F|MYO18B_uc010guy.1_Silent_p.F606F|MYO18B_uc010guz.1_Silent_p.F606F|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Silent_p.F238F	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	725	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGCTGGACTTCAACGCTACAG	0.642000														3			10		0	0	1	0	0
GLS2	27165	broad.mit.edu	37	12	56868878	56868878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:56868878C>T	uc001slj.3	-	9	1225	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	GLS2_uc021qzb.1_Missense_Mutation_p.E279K|GLS2_uc021qzc.1_Intron|GLS2_uc021qzd.1_Missense_Mutation_p.E51K|GLS2_uc009zos.3_Non-coding_Transcript|GLS2_uc001slk.3_Missense_Mutation_p.E51K|GLS2_uc009zot.3_Intron	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	Homo sapiens glutaminase 2 (liver, mitochondrial) (GLS2), nuclear gene encoding mitochondrial protein, mRNA.	316					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TCCCCTGTTTCCTTCTCTGAC	0.468000														106			79		0	0	1	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153277427	153277427	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:153277427C>T	uc001fbn.1	-	2	425	c.372G>A	c.(370-372)aaG>aaA	p.K124K		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	124					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTTACCTATCTTATTGCCAA	0.512000														37			20		0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100890913	100890913	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:100890913G>A	uc004aym.3	-	8	1172	c.1056C>T	c.(1054-1056)ccC>ccT	p.P352P	CORO2A_uc004ayl.3_Silent_p.P352P|CORO2A_uc004ayk.3_5'Flank	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	352					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	p.E351K(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TCATGGAGATGGGCTCGATGA	0.597000														4			16		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39799086	39799086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:39799086C>T	uc021olw.1	+	0	2146	c.2146C>T	c.(2146-2148)Cca>Tca	p.P716S	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2281					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGCAGTCATCCATTAGAATT	0.388000														26			14		0	0	1	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74644606	74644606	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:74644606C>T	uc004ecg.3	-	7	1095	c.617G>A	c.(616-618)aGt>aAt	p.S206N	ZDHHC15_uc004ech.3_Missense_Mutation_p.S197N|ZDHHC15_uc011mqo.1_Non-coding_Transcript	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	Homo sapiens zinc finger, DHHC-type containing 15 (ZDHHC15), transcript variant 1, mRNA.	206						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						AGAGCGAACACTGGGTAATTC	0.373000														0			5		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208178	58208178	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:58208178G>A	uc001vhq.1	+	0	2390	c.1498G>A	c.(1498-1500)Gac>Aac	p.D500N	PCDH17_uc010aec.1_Missense_Mutation_p.D500N	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	500	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCAGGATCCCGACCTGGGCCA	0.602000														30			9		0	0	1	0	0
AK057473	0	broad.mit.edu	37	17	20805613	20805613	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:20805613G>A	uc002gyg.1	+	3		c.797G>A			AK057473_uc002gyh.1_Non-coding_Transcript					Homo sapiens cDNA FLJ32911 fis, clone TESTI2006210.																		GCCCATTACTGGAGCAGCAGC	0.562000														73			27		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186551710	186551710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:186551710G>A	uc003iyg.3	-	10	1101	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S	SORBS2_uc003iyh.3_Missense_Mutation_p.P494S|SORBS2_uc011ckw.2_Missense_Mutation_p.P331S|SORBS2_uc003iyi.3_Missense_Mutation_p.P401S|SORBS2_uc011ckx.2_Missense_Mutation_p.P336S|SORBS2_uc003iyk.3_Missense_Mutation_p.P314S|SORBS2_uc003iym.3_Missense_Mutation_p.P343S|SORBS2_uc003iyl.3_Missense_Mutation_p.P243S|SORBS2_uc003iyn.1_Missense_Mutation_p.P361S|SORBS2_uc011cky.1_Missense_Mutation_p.P306S|SORBS2_uc011cku.2_Missense_Mutation_p.P162S|SORBS2_uc011ckv.2_Missense_Mutation_p.P147S|SORBS2_uc003iyd.3_Missense_Mutation_p.P469S|SORBS2_uc003iye.3_Missense_Mutation_p.P343S|SORBS2_uc003iya.3_Missense_Mutation_p.P290S|SORBS2_uc003iyb.3_Missense_Mutation_p.P243S|SORBS2_uc003iyc.3_Missense_Mutation_p.P223S|SORBS2_uc003iyf.3_Missense_Mutation_p.P306S|SORBS2_uc003iyo.1_Missense_Mutation_p.P219S	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	243						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.G357S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TACCTCATGGGTCTTTCCAGG	0.338000														20			15		0	0	1	0	0
NADSYN1	55191	broad.mit.edu	37	11	71212393	71212393	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:71212393G>A	uc001oqn.3	+	20	2242	c.2116G>A	c.(2116-2118)Gac>Aac	p.D706N	NADSYN1_uc001oqo.3_Missense_Mutation_p.D446N|NADSYN1_uc001oqp.3_Missense_Mutation_p.D335N	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	Homo sapiens NAD synthetase 1 (NADSYN1), mRNA.	706	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ synthase (glutamine-hydrolyzing) activity|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGACGGCGTGGACTGAGGCCG	0.632000														4			10		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141752589	141752589	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141752589C>T	uc003vwy.3	+	25	3018	c.2964C>T	c.(2962-2964)tcC>tcT	p.S988S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	988	P-type 2.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTCAGGCATCCAATTCTTCTG	0.403000														43			57		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202459	56202459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:56202459C>T	uc002lhj.4	-	4	5174	c.4960G>A	c.(4960-4962)Gca>Aca	p.A1654T	ALPK2_uc002lhk.1_Missense_Mutation_p.A985T	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1654							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						GAAATAAATGCCAAGGTCTTC	0.468000														31			26		0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42267008	42267008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:42267008C>T	uc003bbi.3	+	3	1005	c.836C>T	c.(835-837)aCc>aTc	p.T279I	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	279	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCCCTCACCACCCCTATCCAG	0.562000														90			34		0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632663	143632663	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:143632663T>A	uc011ktv.2	+	0	338	c.338T>A	c.(337-339)gTt>gAt	p.V113D		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					ATTGAGTTTGTTCTCCTGGCA	0.547000														60			41		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21552411	21552411	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:21552411T>C	uc003cce.3	-	3	789	c.381A>G	c.(379-381)gcA>gcG	p.A127A	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	127						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AGGTAGTCTTTGCGCTGTCCT	0.468000														24			66		0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5173160	5173160	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5173160C>T	uc010qyy.2	-	0	440	c.440G>A	c.(439-441)gGa>gAa	p.G147E		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	147					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACCATAGTTCCTATCTGAAT	0.488000														44			19		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23862712	23862712	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:23862712C>T	uc001wjv.3	-	22	3015	c.2944G>A	c.(2944-2946)Gag>Aag	p.E982K		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	982					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCATCTCCTCTGTTAGGTTC	0.532000														138			88		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546405	11546405	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11546405C>T	uc010shk.1	-	2	642	c.607G>A	c.(607-609)Gga>Aga	p.G203R		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGGTGGTCCTTGTGGCTTT	0.607000														191			60		0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7730138	7730139	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:7730138_7730139CC>TT	uc003gkb.4	+	21	2931_2932	c.2931_2932CC>TT	c.(2929-2934)acccct>acTTct	p.P978S	SORCS2_uc011bwi.2_Missense_Mutation_p.P806S	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	978						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ACCCCAACACCCCTGAGTGGAG	0.589000														9			8		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24722115	24722115	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:24722115G>A	uc001iru.4	+	3	1148	c.745G>A	c.(745-747)Gat>Aat	p.D249N	KIAA1217_uc001irs.3_Missense_Mutation_p.D169N|KIAA1217_uc001irt.4_Missense_Mutation_p.D249N|KIAA1217_uc010qcy.2_Missense_Mutation_p.D249N|KIAA1217_uc010qcz.2_Missense_Mutation_p.D249N|KIAA1217_uc001irv.1_Missense_Mutation_p.D99N|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	249					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TGAATTAAATGATGTAAGGTA	0.358000														34			9		0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42379548	42379548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:42379548G>A	uc001zox.3	-	2	300	c.205C>T	c.(205-207)Cat>Tat	p.H69Y		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	69	C2.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CACACAGGATGACTGGTGTCG	0.567000														106			84		0	0	1	0	0
DHRS9	10170	broad.mit.edu	37	2	169938249	169938249	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:169938249G>A	uc010zdc.2	+	1	450	c.338G>A	c.(337-339)gGa>gAa	p.G113E	DHRS9_uc002uep.3_Missense_Mutation_p.G53E|DHRS9_uc002ueq.3_Missense_Mutation_p.G53E|DHRS9_uc002uer.1_Missense_Mutation_p.G53E|DHRS9_uc010zdd.2_Missense_Mutation_p.G53E|DHRS9_uc010zde.2_Missense_Mutation_p.G53E	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	53					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GATAAAAAGGGATTTCATGTA	0.423000														33			21		0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45855556	45855556	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45855556G>A	uc002pbj.2	-	21	2148	c.2101C>T	c.(2101-2103)Ctc>Ttc	p.L701F	ERCC2_uc002pbh.2_Missense_Mutation_p.L264F|ERCC2_uc002pbi.2_Missense_Mutation_p.L394F|ERCC2_uc010ejz.2_Missense_Mutation_p.L623F|ERCC2_uc002pbk.2_Missense_Mutation_p.L677F	NM_000400	NP_000391	P18074	ERCC2_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 1, mRNA.	701					UV protection|cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	MMXD complex|cytoplasm|holo TFIIH complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GCATCTGTGAGGTGCTCCTGG	0.657000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					44			32		0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63283053	63283053	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:63283053G>A	uc001nxc.2	+	7	1076	c.735G>A	c.(733-735)agG>agA	p.R245R	LGALS12_uc001nxa.2_Silent_p.R244R|LGALS12_uc001nxb.2_Silent_p.R235R|LGALS12_uc001nxd.2_Silent_p.R183R|LGALS12_uc001nxe.2_Silent_p.R174R|LGALS12_uc009yot.2_Silent_p.R204R	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	244	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						TGAGCCTGAGGGACCAGGCTG	0.612000														61			15		0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50119875	50119875	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:50119875C>T	uc010njr.2	-	23	3177	c.3133G>A	c.(3133-3135)Gaa>Aaa	p.E1045K		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	1052					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GCTTGAATTTCAGTATGCTTG	0.483000														11			4		0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169579558	169579558	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:169579558C>T	uc003fgc.1	-	1	284	c.219G>A	c.(217-219)gaG>gaA	p.E73E	LRRC31_uc010hwp.1_Silent_p.E73E	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	73								p.M72I(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GCTCATTTTTCTCCATACTGG	0.383000														27			65		0	0	1	0	0
LOC283547	283547	broad.mit.edu	37	14	39304838	39304838	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:39304838G>A	uc010amw.2	-	0		c.3571C>T			LOC283547_uc021rsj.1_Non-coding_Transcript|LOC283547_uc001wun.3_Non-coding_Transcript|LOC283547_uc001wuo.3_Non-coding_Transcript					Homo sapiens uncharacterized LOC283547 (LOC283547), non-coding RNA.																		CTTTTCAGAGGAAGAAACCCT	0.483000														16			7		0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57287427	57287427	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:57287427G>A	uc002ixi.3	+	0	57	c.15G>A	c.(13-15)gtG>gtA	p.V5V		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA.	5					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CTGGTCCCGTGAGCTTGCGAG	0.592000														20			15		0	0	1	0	0
GSG1	83445	broad.mit.edu	37	12	13243455	13243456	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:13243455_13243456CC>TT	uc001rbn.3	-	1	529_530	c.345_346GG>AA	c.(343-348)gaggaa>gaAAaa	p.E116K	GSG1_uc001rbl.3_Missense_Mutation_p.E103K|GSG1_uc001rbj.3_Missense_Mutation_p.E103K|GSG1_uc001rbk.3_Missense_Mutation_p.E103K|GSG1_uc001rbm.3_Missense_Mutation_p.E103K|GSG1_uc001rbo.3_Missense_Mutation_p.E116K|GSG1_uc001rbp.3_Missense_Mutation_p.E116K|GSG1_uc001rbq.2_Missense_Mutation_p.E116K	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	Homo sapiens germ cell associated 1 (GSG1), transcript variant 4, mRNA.	103						endoplasmic reticulum membrane|integral to membrane		p.E102E(1)		endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TCCACAGTTTCCTCACAGGATA	0.554000														47			8		0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79313631	79313631	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:79313631C>T	uc002sny.2	-	4	296	c.184_splice	c.e4-1	p.L62_splice	REG1B_uc010ffv.1_Intron|REG1B_uc010ffw.3_3'UTR	NM_006507	NP_006498	P48304	REG1B_HUMAN	Homo sapiens regenerating islet-derived 1 beta (REG1B), mRNA.	62	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GGCAATAGAGCTGTTGGAGAA	0.498000														58			35		0	0	1	0	0
MAP3K2	10746	broad.mit.edu	37	2	128079751	128079751	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:128079751G>A	uc002toj.2	-	10	1016	c.916C>T	c.(916-918)Cat>Tat	p.H306Y		NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 2 (MAP3K2), mRNA.	306					activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		CTTAAGGAATGATCAGTAGGA	0.423000														12			16		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55196519	55196519	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:55196519G>A	uc003pcm.1	+	1	115	c.29G>A	c.(28-30)gGg>gAg	p.G10E		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	10						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAAGCTATGGGGTTAAGCTTG	0.323000														28			8		0	0	1	0	0
SPATA2	9825	broad.mit.edu	37	20	48522672	48522672	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:48522672C>T	uc010gie.3	-	2	1397	c.1047G>A	c.(1045-1047)cgG>cgA	p.R349R	SPATA2_uc002xuw.3_Silent_p.R349R|SPATA2_uc010zyn.2_Silent_p.R212R	NM_001135773	NP_006029	Q9UM82	SPAT2_HUMAN	Homo sapiens spermatogenesis associated 2 (SPATA2), transcript variant 2, mRNA.	349					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		p.R349Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GAGCATCCTGCCGACGGTAGG	0.637000														117			25		0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	25004692	25004692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:25004692G>A	uc001mqs.3	+	8	892	c.618G>A	c.(616-618)atG>atA	p.M206I	LUZP2_uc009yif.3_Missense_Mutation_p.M120I|LUZP2_uc009yig.3_Missense_Mutation_p.M164I	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	206						extracellular region		p.M206I(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TGAAAGCAATGAAAGAGACTG	0.413000														86			27		0	0	1	0	0
CCDC92	80212	broad.mit.edu	37	12	124421907	124421907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:124421907G>A	uc001ufw.1	-	4	841	c.694C>T	c.(694-696)Ctt>Ttt	p.L232F	CCDC92_uc001ufv.1_Missense_Mutation_p.L215F|CCDC92_uc001ufx.1_Missense_Mutation_p.L232F	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	Homo sapiens coiled-coil domain containing 92 (CCDC92), mRNA.	232										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TCCCGCAAAAGGAGTTTCCTG	0.592000														52			21		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452388	138452388	+	Silent	SNP	G	A	A	rs62330470		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:138452388G>A	uc003ihe.4	-	0	1242	c.855C>T	c.(853-855)ttC>ttT	p.F285F	PCDH18_uc003ihf.4_Silent_p.F278F|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.F65F|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	285	Cadherin 3.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CATGACTGCTGAAGGAATATA	0.388000														32			30		0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36580012	36580012	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:36580012G>A	uc022abu.1	-	15	1620	c.1219C>T	c.(1219-1221)Ctg>Ttg	p.L407L	AOAH_uc003tfh.4_Silent_p.L407L|AOAH_uc011kba.2_Silent_p.L375L	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	407					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						CCATTGGGCAGGTGGGAATTT	0.458000														70			22		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179454532	179454532	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179454532G>A	uc021vsy.1	-	252	54441	c.54216C>T	c.(54214-54216)ttC>ttT	p.F18072F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.F11767F|TTN_uc021vta.1_Silent_p.F11700F|TTN_uc021vtb.1_Silent_p.F11575F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18999	Fibronectin type-III 31.						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)			CACAAACTCGGAAATAGTATT	0.413000														63			68		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221312	118221312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:118221312G>A	uc004era.4	-	10	3881	c.3881C>T	c.(3880-3882)cCc>cTc	p.P1294L		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1294										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AAGCTGCCTGGGAGACAGCTG	0.488000														40			36		0	0	1	0	0
LIN28A	79727	broad.mit.edu	37	1	26752948	26752948	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:26752948G>A	uc001bmj.3	+	3	743	c.629G>A	c.(628-630)tGa>tAa	p.*210*	LIN28A_uc001bmi.1_Non-coding_Transcript	NM_024674	NP_078950	Q9H9Z2	LN28A_HUMAN	Homo sapiens lin-28 homolog A (C. elegans) (LIN28A), mRNA.	0					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						GCACAGAATTGAGCCACAATG	0.542000														28			5		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672472	186672472	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:186672472G>A	uc002upl.3	+	16	18706	c.18706G>A	c.(18706-18708)Gaa>Aaa	p.E6236K	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGTGGAAGTTGAAAACATCGT	0.393000														30			16		0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89883650	89883650	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:89883650G>A	uc001pdf.4	+	5	593	c.484_splice	c.e5-1	p.G162_splice	NAALAD2_uc009yvx.3_Splice_Site_p.G162_splice|NAALAD2_uc009yvy.3_Splice_Site_p.G162_splice|NAALAD2_uc001pdd.2_Splice_Site_p.G162_splice|NAALAD2_uc001pde.3_Splice_Site_p.G162_splice	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	162					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)				TTCCCTATAGGGAGATCTTGT	0.303000														15			8		0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29599287	29599287	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29599287C>T	uc003nmt.4	-	2	511	c.175G>A	c.(175-177)Gtg>Atg	p.V59M	GABBR1_uc003nmu.4_Missense_Mutation_p.V59M|GABBR1_uc011dlr.2_5'UTR|GABBR1_uc011dls.1_Missense_Mutation_p.V59M	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	59	Sushi 1.				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.P58S(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	TCATAGTCCACTGGCAGGAAG	0.617000														170			32		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16035587	16035587	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:16035587C>T	uc002nbu.2	-	5	667	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	CYP4F11_uc010eab.1_Missense_Mutation_p.E211K|CYP4F11_uc002nbt.2_Missense_Mutation_p.E211K	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	211					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CAATTGCTTTCAAAGCTGAAG	0.547000														62			23		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86468442	86468442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:86468442G>A	uc003uid.3	+	3	2711	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.E410K|GRM3_uc010leh.3_Missense_Mutation_p.E130K	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	538					synaptic transmission	integral to plasma membrane		p.E538K(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGAACCCTACGAATACCTGGC	0.532000														102			102		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10973731	10973731	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:10973731C>T	uc002yip.1	-	3	371	c.3G>A	c.(1-3)atG>atA	p.M1I	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.M1I|TPTE_uc002yir.1_Missense_Mutation_p.M1I|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	1					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACCTTTCATTCATACGTGCCT	0.368000														49			10		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133562	22133562	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:22133562G>A	uc010tmd.2	+	0	266	c.266G>A	c.(265-267)aGa>aAa	p.R89K		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CTTTTAGAAAGAAAGACCATT	0.443000														121			122		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155506938	155506938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:155506938C>T	uc003iod.1	-	4	1701	c.1643G>A	c.(1642-1644)gGc>gAc	p.G548D	FGA_uc003ioe.1_Missense_Mutation_p.G548D|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	548					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.R547S(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGATTCTGAGCCCCTAGACTC	0.453000														51			51		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57286085	57286085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:57286085C>T	uc002qnr.2	-	10	1937	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Missense_Mutation_p.E315K|PEG3_uc010ygq.1_Missense_Mutation_p.E315K|PEG3_uc010etp.2_Missense_Mutation_p.E519K|PEG3_uc010ygs.1_Missense_Mutation_p.E519K|PEG3_uc002qnq.2_Missense_Mutation_p.E519K	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	652					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACAGTTTTCTCTTGAGAATGG	0.443000														43			18		0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102951398	102951398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:102951398G>A	uc003hvy.4	+	9	2150	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K	BANK1_uc003hvx.4_Missense_Mutation_p.E611K|BANK1_uc010ill.3_Missense_Mutation_p.E493K|BANK1_uc003hvz.4_Missense_Mutation_p.E596K	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	626					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TCCAAAAGAGGAAACTACACC	0.398000														57			31		0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46495814	46495814	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:46495814G>A	uc003cpq.3	-	5	925	c.684C>T	c.(682-684)atC>atT	p.I228I	LTF_uc003fzr.3_Silent_p.I184I|LTF_uc010hjh.3_Silent_p.I228I|LTF_uc003cpr.3_Silent_p.I215I	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	228	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TGCTCTCTCTGATAAAAGCCA	0.512000														159			44		0	0	1	0	0
SCFD1	23256	broad.mit.edu	37	14	31169402	31169402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:31169402C>T	uc001wqm.1	+	15	1372	c.1348C>T	c.(1348-1350)Cca>Tca	p.P450S	SCFD1_uc001wqn.1_Missense_Mutation_p.P383S|SCFD1_uc010tpg.1_Missense_Mutation_p.P391S|SCFD1_uc010tph.1_Missense_Mutation_p.P265S|SCFD1_uc010amf.1_Missense_Mutation_p.P265S|SCFD1_uc010tpi.1_Missense_Mutation_p.P358S|SCFD1_uc010amd.1_Missense_Mutation_p.P282S	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	Homo sapiens sec1 family domain containing 1 (SCFD1), transcript variant 1, mRNA.	450					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	Golgi cisterna membrane|Golgi-associated vesicle|cis-Golgi network|endoplasmic reticulum membrane|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		AGCAGGAACTCCAGAAGATAA	0.343000														80			23		0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91449587	91449587	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:91449587G>A	uc001tbl.3	-	1	1091	c.472C>T	c.(472-474)Cct>Tct	p.P158S		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	158					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GTCCCTTGAGGAATTCTGGAC	0.393000														8			91		0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241813430	241813430	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:241813430C>T	uc002waa.4	+	5	752	c.631C>T	c.(631-633)Ctg>Ttg	p.L211L	AGXT_uc002wab.4_5'Flank	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	211					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCAGAAGGCCCTGAACGCCCC	0.632000														67			13		0	0	1	0	0
NCSTN	23385	broad.mit.edu	37	1	160323917	160323917	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:160323917C>T	uc001fvx.3	+	10	1313	c.1189C>T	c.(1189-1191)Ctc>Ttc	p.L397F	NCSTN_uc001fvy.3_Missense_Mutation_p.L377F|NCSTN_uc010pjf.2_Missense_Mutation_p.L259F|NCSTN_uc010pjg.2_Missense_Mutation_p.L139F	NM_015331	NP_056146	Q92542	NICA_HUMAN	Homo sapiens nicastrin (NCSTN), mRNA.	397					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 apparatus|endoplasmic reticulum|integral to plasma membrane|melanosome	protein binding	p.L397L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTGGAGGATCTCCTGGCCAC	0.557000														35			17		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071745	9071745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9071745G>A	uc002mkp.3	-	2	15905	c.15701C>T	c.(15700-15702)tCc>tTc	p.S5234F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5236	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTGGGGTGGAAATTTTGCT	0.478000														72			62		0	0	1	0	0
C22orf31	25770	broad.mit.edu	37	22	29454859	29454860	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:29454859_29454860CC>TT	uc003aej.1	-	2	870_871	c.743_744GG>AA	c.(742-744)tgg>tAA	p.W248*		NM_015370	NP_056185	O95567	CV031_HUMAN	Homo sapiens chromosome 22 open reading frame 31 (C22orf31), mRNA.	248										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						AAAGAGCCTCCCAGAGCTTTTG	0.584000														68			25		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147011019	147011019	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:147011019C>T	uc010jgo.1	-	12	1980	c.1832G>A	c.(1831-1833)gGt>gAt	p.G611D	JAKMIP2_uc003loq.1_Missense_Mutation_p.G611D|JAKMIP2_uc011dbx.1_Missense_Mutation_p.G569D|JAKMIP2_uc003lor.1_Missense_Mutation_p.G590D|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	611						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACTCACACCATCTGAGAA	0.353000														11			30		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26714877	26714877	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:26714877G>A	uc001rhg.3	-	34	5056	c.4639C>T	c.(4639-4641)Cgt>Tgt	p.R1547C		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1547					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GCAATTCCACGATTTTTTGCT	0.323000														23			4		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494591	55494591	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55494591T>C	uc021vbq.1	+	5	1636	c.1525T>C	c.(1525-1527)Ttt>Ctt	p.F509L	NLRP2_uc010yfp.2_Missense_Mutation_p.F486L|NLRP2_uc002qij.3_Missense_Mutation_p.F509L|NLRP2_uc010esp.3_Missense_Mutation_p.F487L|NLRP2_uc010esn.3_Missense_Mutation_p.F485L|NLRP2_uc010eso.3_Missense_Mutation_p.F506L	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	509	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTTCCAGCAGTTTCTCACTGC	0.582000														47			35		0	0	1	0	0
EPN2	22905	broad.mit.edu	37	17	19215451	19215451	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:19215451G>A	uc002gvd.4	+	5	1414	c.966G>A	c.(964-966)aaG>aaA	p.K322K	EPN2_uc010cql.1_Silent_p.K37K|EPN2_uc002gve.4_Silent_p.K265K|EPN2_uc002gvf.4_Silent_p.K37K|EPN2_uc010vyo.2_Silent_p.K37K|EPN2_uc002gvh.1_Silent_p.K322K|EPN2_uc010vyp.2_Silent_p.K265K|EPN2_uc010vyq.2_Silent_p.K265K|EPN2_uc002gvj.3_5'Flank	NM_014964	NP_001096134	O95208	EPN2_HUMAN	Homo sapiens epsin 2 (EPN2), transcript variant 2, mRNA.	322					endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TTCCAAAAAAGAAAGAGGTAA	0.507000														61			34		0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11076123	11076123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:11076123C>T	uc003sry.2	+	8	2133	c.1681C>T	c.(1681-1683)Cca>Tca	p.P561S	PHF14_uc011jxi.2_Missense_Mutation_p.P276S|PHF14_uc011jxj.2_Missense_Mutation_p.P276S	NM_014660	NP_055475	O94880	PHF14_HUMAN	Homo sapiens PHD finger protein 14 (PHF14), transcript variant 2, mRNA.	561							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GGCCTGGGTTCCAAGGGAAAA	0.473000														52			19		0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46656336	46656336	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:46656336C>T	uc003oyj.3	+	0	725	c.471C>T	c.(469-471)ttC>ttT	p.F157F	TDRD6_uc010jze.3_Silent_p.F157F	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	157					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CCGTGGACTTCCTTAGCAACC	0.692000														30			10		0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42146303	42146303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:42146303C>T	uc001zos.3	-	56	9947	c.9614G>A	c.(9613-9615)gGa>gAa	p.G3205E	5S_rRNA_uc021sjn.1_5'Flank	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	3240					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCTGTGGCCTCCGTCCTCCCC	0.652000														8			3		0	0	1	0	0
CALML5	51806	broad.mit.edu	37	10	5541215	5541215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:5541215C>T	uc001iic.2	-	0	319	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K		NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN	Homo sapiens calmodulin-like 5 (CALML5), mRNA.	63	EF-hand 2.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						AAGCTGATTTCGCCGTCGCCG	0.672000														38			39		0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26213014	26213014	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:26213014G>A	uc022buc.1	+	0	1051	c.1051G>A	c.(1051-1053)Gat>Aat	p.D351N	MAGEB6_uc004dbr.3_Missense_Mutation_p.D351N	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	351	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GTGCAACAGTGATCCTCCATG	0.502000														35			18		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990527	63990527	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:63990527T>A	uc003peh.3	-	3	963	c.929A>T	c.(928-930)gAt>gTt	p.D310V	LGSN_uc003pei.3_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	310					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	AATCCCTGAATCACAAAATCC	0.418000														41			6		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833787	61833787	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:61833787C>T	uc001jky.3	-	36	7190	c.6852G>A	c.(6850-6852)cgG>cgA	p.R2284R	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.	2284					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			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						TGGAAGGATCCCGCCCGGACT	0.493000														43			81		0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103404490	103404490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:103404490G>A	uc001ymi.1	-	35	5187	c.4955C>T	c.(4954-4956)aCt>aTt	p.T1652I		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	1652					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CAGAGGCACAGTCACGCTAGG	0.532000														67			42		0	0	1	0	0
TTLL11	158135	broad.mit.edu	37	9	124751570	124751570	+	Silent	SNP	G	A	A	rs149659494	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:124751570G>A	uc011lyl.2	-	3	1631	c.1443C>T	c.(1441-1443)tcC>tcT	p.S481S	TTLL11_uc004blr.3_Non-coding_Transcript|TTLL11_uc011lym.1_Silent_p.S158S|TTLL11_uc004blt.1_Silent_p.S481S|TTLL11_uc004blu.1_3'UTR	NM_001139442	NP_001132914	Q8NHH1	TTL11_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 11 (TTLL11), transcript variant 1, mRNA.	481	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						TAATCACCACGGAGATGATGT	0.532000														22			15		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40420140	40420140	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:40420140G>A	uc002omp.4	-	5	2862	c.2854C>T	c.(2854-2856)Ccc>Tcc	p.P952S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	952	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTTGGAAGGGCAGATACTGA	0.577000														22			29		0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102339393	102339393	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:102339393C>T	uc004eju.3	-	2	299	c.228G>A	c.(226-228)cgG>cgA	p.R76R	NXF3_uc010noi.1_5'Flank|NXF3_uc011mrw.1_Silent_p.R76R|NXF3_uc011mrx.1_5'UTR	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	76						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						AACTGCCTTTCCGATTATAGG	0.438000														31			24		0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124049455	124049455	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:124049455C>T	uc001lgc.1	+	5	668	c.417C>T	c.(415-417)tcC>tcT	p.S139S	BTBD16_uc001lgd.1_Silent_p.S138S	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	139								p.K138*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AAGAAAAATCCCCTGCAAAGA	0.433000														94			17		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238249665	238249665	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:238249665G>A	uc002vwl.2	-	37	8179	c.7894C>T	c.(7894-7896)Ctg>Ttg	p.L2632L	COL6A3_uc002vwo.2_Silent_p.L2426L|COL6A3_uc010znj.1_Silent_p.L2025L|COL6A3_uc002vwj.2_Silent_p.L13L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2632	Nonhelical region.|VWFA 12.				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)		AACTGGAACAGGGTGGTGGTC	0.552000														108			51		0	0	1	0	0
TIMM44	10469	broad.mit.edu	37	19	8005991	8005991	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:8005991G>C	uc002miz.3	-	1	309	c.137C>G	c.(136-138)cCa>cGa	p.P46R	TIMM44_uc010dvx.2_Non-coding_Transcript	NM_006351	NP_006342	O43615	TIM44_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA.	46					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						ACTCACCAGTGGCAGCTCTCC	0.607000														43			22		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429841	135429841	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:135429841G>A	uc004ezu.1	+	5	4267	c.3976G>A	c.(3976-3978)Gga>Aga	p.G1326R	GPR112_uc010nsb.1_Missense_Mutation_p.G1121R|GPR112_uc010nsc.1_Missense_Mutation_p.G1093R	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1326					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G1326R(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCCCTCTGATGGAAATTTGGC	0.438000														8			44		0	0	1	0	0
TLE6	79816	broad.mit.edu	37	19	2993568	2993568	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:2993568T>C	uc002lwt.2	+	14	1634	c.1525T>C	c.(1525-1527)Ttc>Ctc	p.F509L	TLE6_uc002lwu.2_Missense_Mutation_p.F386L	NM_001143986	NP_079036	Q9H808	TLE6_HUMAN	Homo sapiens transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) (TLE6), transcript variant 1, mRNA.	386					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		GAGCGTCAAGTTCTCCCCCTT	0.642000														18			23		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107041049	107041049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:107041049C>T	uc010ywi.1	-	19	3431	c.3374G>A	c.(3373-3375)gGa>gAa	p.G1125E		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1125	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCTATCTGATCCAGAGAGGGG	0.433000														134			56		0	0	1	0	0
SPINLW1-WFDC6	100526773	broad.mit.edu	37	20	44163121	44163121	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:44163121C>T	uc002xos.1	-	2	334	c.246G>A	c.(244-246)aaG>aaA	p.K82K		NM_080827	NP_543017	A6PVD6	A6PVD6_HUMAN	Homo sapiens WAP four-disulfide core domain 6 (WFDC6), mRNA.	0						extracellular region	serine-type endopeptidase inhibitor activity										CAAGCTCCTCCTTATGGTATA	0.478000														69			27		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116414988	116414988	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:116414988C>T	uc003vij.3	+	14	3269	c.3082C>T	c.(3082-3084)Ctg>Ttg	p.L1028L	MET_uc010lkh.3_Silent_p.L1046L|MET_uc011knj.2_Silent_p.L598L	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1028					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.982_1028del47(8)|p.L982_D1028del(3)|p.D981_D1028del(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GCAGTATCCTCTGACAGACAT	0.408000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					44			37		0	0	1	0	0
NBPF15	284565	broad.mit.edu	37	1	148591227	148591227	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:148591227A>G	uc001esb.2	+	17	2454	c.1292A>G	c.(1291-1293)aAa>aGa	p.K431R	NBPF15_uc001esc.2_Missense_Mutation_p.K431R	NM_001170755	NP_775909	Q8N660	NBPFF_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 15 (NBPF15), transcript variant 1, mRNA.	431	NBPF 4.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CTGGATGAGAAAGAGCCTGAA	0.473000														32			48		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476488	120476488	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:120476488G>A	uc004bjz.3	+	2	2373	c.2082G>A	c.(2080-2082)aaG>aaA	p.K694K	TLR4_uc004bkb.3_Silent_p.K494K|TLR4_uc004bka.3_Silent_p.K654K	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	694	TIR.		K -> R (in dbSNP:rs5030722).		I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AGCTAGTAAAGAATTTAGAAG	0.453000														6			48		0	0	1	0	0
C11orf2	738	broad.mit.edu	37	11	64875963	64875963	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:64875963C>T	uc001ocr.1	+	4	1060	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	C11orf2_uc001ocs.1_Silent_p.F216F	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	340					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						TGGCGGCCTTCGCCCGGCAGC	0.716000														18			7		0	0	1	0	0
RNASEH2C	84153	broad.mit.edu	37	11	65487831	65487831	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:65487831G>C	uc001ofn.3	-	1	410	c.230C>G	c.(229-231)cCt>cGt	p.P77R	RNASEH2C_uc001ofm.3_Non-coding_Transcript	NM_032193	NP_115569	Q8TDP1	RNH2C_HUMAN	Homo sapiens ribonuclease H2, subunit C (RNASEH2C), mRNA.	77					RNA catabolic process	nucleus|ribonuclease H2 complex				cervix(1)	1						CACGAGGCCAGGCGGCACCGC	0.647000														77			8		0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231339623	231339623	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:231339623C>T	uc009xfn.1	+	5	1587	c.1545C>T	c.(1543-1545)gtC>gtT	p.V515V		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	Homo sapiens tripartite motif containing 67 (TRIM67), mRNA.	515	Fibronectin type-III.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TGCCACCCGTCCCCCTACTGC	0.677000														15			21		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170802051	170802051	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:170802051G>A	uc003fhh.2	-	25	3407	c.3062C>T	c.(3061-3063)tCg>tTg	p.S1021L	TNIK_uc003fhi.2_Missense_Mutation_p.S966L|TNIK_uc003fhj.2_Missense_Mutation_p.S992L|TNIK_uc003fhk.2_Missense_Mutation_p.S1013L|TNIK_uc003fhl.2_Missense_Mutation_p.S937L|TNIK_uc003fhm.2_Missense_Mutation_p.S958L|TNIK_uc003fhn.2_Missense_Mutation_p.S984L|TNIK_uc003fho.2_Missense_Mutation_p.S929L|TNIK_uc003fhg.2_Missense_Mutation_p.S199L|TNIK_uc003fhp.3_5'Flank	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	1021	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ATTTACCACCGAAATCTTTCT	0.398000														53			36		0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323235	29323235	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29323235G>A	uc011dlo.2	-	0	820	c.738C>T	c.(736-738)gcC>gcT	p.A246A		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAAAGACAATGGCCAGGTGGG	0.443000														60			26		0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28610027	28610027	+	Silent	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:28610027C>A	uc003szq.3	+	4	726	c.336C>A	c.(334-336)ccC>ccA	p.P112P	CREB5_uc003szo.3_Silent_p.P79P|CREB5_uc003szr.3_Silent_p.P105P	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	112					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TGACGGGGCCCGGAACTCACC	0.542000														352			522		3.022e-173	3.06843e-173	1	1	0
ARSA	410	broad.mit.edu	37	22	51063801	51063801	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:51063801G>A	uc003bna.4	-	7	1306	c.1044C>T	c.(1042-1044)tcC>tcT	p.S348S	ARSA_uc021wsd.1_Silent_p.S434S|ARSA_uc021wse.1_Silent_p.S434S|ARSA_uc021wsf.1_Silent_p.S434S|ARSA_uc003bmz.4_Silent_p.S432S	NM_001085428	NP_001078897	P15289	ARSA_HUMAN	Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.	432						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CAGGGTCCTTGGACAGGTCAT	0.637000														98			38		0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184533	72184533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:72184533C>T	uc002fcc.4	-	4	782	c.610G>A	c.(610-612)Ggg>Agg	p.G204R	PMFBP1_uc002fcd.3_Missense_Mutation_p.G204R|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.G59R	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	204										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCGAGTTCCCCCTGCAACATC	0.527000														13			66		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537455	55537455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:55537455G>A	uc003xsd.1	+	3	1161	c.1013G>A	c.(1012-1014)cGa>cAa	p.R338Q	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	338					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)			ATGAAAGTTCGATTCAGAATA	0.323000														29			8		0	0	1	0	0
ZSWIM1	90204	broad.mit.edu	37	20	44511960	44511961	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:44511960_44511961CC>TT	uc021wem.1	+	0	729_730	c.729_730CC>TT	c.(727-732)caccgc>caTTgc	p.R244C	ZSWIM1_uc010ghi.3_Missense_Mutation_p.R244C	NM_080603	NP_542170	Q9BR11	ZSWM1_HUMAN	Homo sapiens zinc finger, SWIM-type containing 1 (ZSWIM1), mRNA.	244							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				GGCTGGCTCACCGCTGGAGAAG	0.569000														39			16		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17464811	17464811	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:17464811A>T	uc001mnc.3	-	8	1507	c.1381T>A	c.(1381-1383)Tta>Ata	p.L461I	ABCC8_uc010rcy.1_Missense_Mutation_p.L460I	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	461	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GCTCCAATTAAGGCACTGACT	0.547000														165			134		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149493597	149493597	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:149493597G>A	uc010lpk.3	+	43	6664	c.6664G>A	c.(6664-6666)Gag>Aag	p.E2222K		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2225	F5/8 type C.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTGGGCTGCGAGCCAGGTAC	0.667000														92			25		0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147114146	147114146	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:147114146C>T	uc011bno.2	-	2	517	c.331G>A	c.(331-333)Gga>Aga	p.G111R	ZIC4_uc003ewc.2_5'UTR|ZIC4_uc021xff.1_Missense_Mutation_p.G99R|ZIC4_uc003ewd.2_Missense_Mutation_p.G61R|ZIC4_uc021xfg.1_Intron	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	61						nucleus	DNA binding|zinc ion binding	p.H111Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGCAGGAGTCCATTCAAAGGA	0.736000														27			4		0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5568198	5568198	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:5568198G>A	uc003sot.4	-	3	600	c.516C>T	c.(514-516)ccC>ccT	p.P172P	ACTB_uc003sor.4_Silent_p.P50P|ACTB_uc003soq.4_Silent_p.P50P	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	172					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGATGGCATGGGGGAGGGCAT	0.637000														144			64		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94048616	94048616	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:94048616G>A	uc001ybv.1	+	16	2281	c.2198G>A	c.(2197-2199)gGg>gAg	p.G733E	UNC79_uc001ybs.1_Missense_Mutation_p.G733E	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	910						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGCCCTGAAGGGGAGGAGGAG	0.567000														39			14		0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66430726	66430726	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:66430726C>T	uc003dmx.3	-	18	3257	c.3243G>A	c.(3241-3243)ggG>ggA	p.G1081G	SLC25A26_uc011bft.2_Non-coding_Transcript|LRIG1_uc011bfu.2_Silent_p.G701G|LRIG1_uc003dmw.3_Silent_p.G747G|LRIG1_uc010hnz.3_Silent_p.G797G|LRIG1_uc010hoa.3_Silent_p.G1058G	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	1081						integral to membrane		p.P1080P(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CCCTCTGTTTCCCGGGGAGCT	0.557000														9			43		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140812012	140812012	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140812012C>T	uc003lkt.2	+	0	1855	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Silent_p.I562I	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	564	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I562I(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCGAGATCCTGTACCCCG	0.662000														44			99		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140174612	140174612	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140174612C>T	uc003lhd.2	+	0	169	c.63C>T	c.(61-63)ctC>ctT	p.L21L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.L21L|PCDHAC2_uc011czy.2_Silent_p.L21L	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	34					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGCTCCTCGCAGCCTGGG	0.622000														21			54		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691166	18691166	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:18691166C>T	uc001rdt.3	+	23	3393	c.3277C>T	c.(3277-3279)Caa>Taa	p.Q1093*	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Nonsense_Mutation_p.Q1134*|PIK3C2G_uc010sic.2_Nonsense_Mutation_p.Q912*	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1093	PI3K/PI4K.				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)				ACAGCATTTTCAAGATTTTGT	0.398000														60			18		0	0	1	0	0
MPP4	58538	broad.mit.edu	37	2	202557634	202557634	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:202557634T>C	uc002uyk.4	-	2	406	c.198A>G	c.(196-198)ctA>ctG	p.L66L	MPP4_uc010ftj.3_Silent_p.L66L|MPP4_uc010zhq.2_Silent_p.L66L|MPP4_uc010zht.2_Silent_p.L66L|MPP4_uc010zhr.2_Silent_p.L66L|MPP4_uc010zhs.2_Silent_p.L66L|MPP4_uc002uyj.4_Silent_p.L66L|MPP4_uc002uyl.4_Non-coding_Transcript|MPP4_uc010ftk.3_Silent_p.L66L|MPP4_uc002uym.1_Silent_p.L79L|MPP4_uc002uyn.3_Silent_p.L66L	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA.	66	L27 1.					cytoplasm	protein binding			kidney(1)|lung(11)	12						CACTCACCTTTAGCAGAGCCT	0.522000														5			5		0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012249	29012249	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29012249C>T	uc003nlw.2	-	0	704	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q234Q(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CATTGCTTTTCGCTGGCTTGC	0.408000														97			21		0	0	1	0	0
TMEM211	255349	broad.mit.edu	37	22	25334156	25334156	+	Silent	SNP	C	T	T	rs138723870		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:25334156C>T	uc003abk.1	-	1	112	c.87G>A	c.(85-87)agG>agA	p.R29R		NM_001001663	NP_001001663	Q6ICI0	TM211_HUMAN	Homo sapiens transmembrane protein 211 (TMEM211), mRNA.	100						integral to membrane				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CACTGCTTCTCCTTGGGCACA	0.527000														50			19		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41551491	41551491	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:41551491G>A	uc003xok.3	-	28	3541	c.3457C>T	c.(3457-3459)Cct>Tct	p.P1153S	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.P469S|ANK1_uc003xoi.3_Missense_Mutation_p.P1153S|ANK1_uc003xoj.3_Missense_Mutation_p.P1153S|ANK1_uc003xol.3_Missense_Mutation_p.P1153S|ANK1_uc003xom.3_Missense_Mutation_p.P1194S	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1153					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTCCAGGAAGGAGGTAGTGGG	0.657000														17			22		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18849183	18849183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:18849183G>A	uc021qvx.1	-	10	1383	c.1192C>T	c.(1192-1194)Cac>Tac	p.H398Y	PLCZ1_uc001rdv.4_Missense_Mutation_p.H294Y|PLCZ1_uc001rdw.4_Missense_Mutation_p.H139Y|PLCZ1_uc001rdu.1_Missense_Mutation_p.H180Y|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	398	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTCCTGGTGTGAAAAATAAAC	0.269000														8			8		0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36597316	36597316	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:36597316A>G	uc021qgb.1	+	0	2462	c.2462A>G	c.(2461-2463)aAt>aGt	p.N821S	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.N821S	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	821					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GTGTATAAGAATCCCAATGCT	0.468000									Familial Hemophagocytic Lymphohistiocytosis					42			34		0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38302620	38302620	+	Silent	SNP	G	A	A	rs138442090		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:38302620G>A	uc010gnb.3	-	5	2524	c.1110C>T	c.(1108-1110)acC>acT	p.T370T	HLCS_uc021wjb.1_Silent_p.T370T|HLCS_uc002yvs.3_Silent_p.T370T|HLCS_uc010gnc.2_Silent_p.T517T	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	370					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TGAGGCCAAGGGTTGTCAGAA	0.483000														27			20		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72211932	72211932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:72211932C>T	uc003xyu.3	-	7	1220	c.580G>A	c.(580-582)Gga>Aga	p.G194R	EYA1_uc003xyt.4_Missense_Mutation_p.G161R|EYA1_uc003xyr.4_Missense_Mutation_p.G189R|EYA1_uc010lzf.3_Missense_Mutation_p.G121R|EYA1_uc003xys.4_Missense_Mutation_p.G194R|EYA1_uc011lfe.2_Missense_Mutation_p.G188R|EYA1_uc003xyv.3_Missense_Mutation_p.G72R	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	194					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.G194R(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GTATATATTCCTGATGATGTT	0.303000														69			17		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32630579	32630579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:32630579C>T	uc003zrg.1	-	0	5089	c.4999G>A	c.(4999-5001)Gat>Aat	p.D1667N	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1667					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCATACATATCAGGAGGCTGA	0.463000														49			39		0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39091502	39091502	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:39091502C>T	uc003xmt.4	+	15	1964	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	ADAM32_uc011lch.2_Silent_p.F474F|ADAM32_uc003xmu.4_Silent_p.F467F|ADAM32_uc003xmv.3_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	573					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TTTATGCTTTCGTACGAGATT	0.393000														13			4		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230373	21230373	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:21230373G>A	uc002red.3	-	25	9495	c.9367C>T	c.(9367-9369)Ctg>Ttg	p.L3123L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3123					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAGAAATCCAGATTTGCTTCT	0.368000														199			626		0	0	1	0	0
FAM48B1	100130302	broad.mit.edu	37	X	24383471	24383471	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:24383471C>T	uc011mjx.2	+	0	2594	c.2594C>T	c.(2593-2595)cCa>cTa	p.P865L		NM_001136234	NP_001129706			Homo sapiens family with sequence similarity 48, member B1 (FAM48B1), mRNA.											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(1)|skin(1)	26						CAGCCACATCCAGGTGTGCAA	0.542000														32			19		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31135100	31135100	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:31135100C>T	uc002rns.3	-	14	2144	c.1504G>A	c.(1504-1506)Gat>Aat	p.D502N	GALNT14_uc002rnq.3_Missense_Mutation_p.D477N|GALNT14_uc010ymr.2_Missense_Mutation_p.D462N|GALNT14_uc002rnr.3_Missense_Mutation_p.D497N	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	497	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGTCGGTCATCTCCATTCTTG	0.542000														163			21		0	0	1	0	0
FAM214B	80256	broad.mit.edu	37	9	35105349	35105349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:35105349G>A	uc003zwl.3	-	8	1811	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	STOML2_uc003zwi.3_5'Flank|STOML2_uc011lou.2_5'Flank|FAM214B_uc003zwm.3_Missense_Mutation_p.R496C|FAM214B_uc003zwn.3_Missense_Mutation_p.R191C|FAM214B_uc003zwo.3_Missense_Mutation_p.R496C	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	Homo sapiens family with sequence similarity 214, member B (FAM214B), mRNA.	496						nucleus											AGGCTTAAGCGGCCTGAGCGG	0.597000														3			21		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382615	22382615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:22382615C>T	uc001yuc.1	+	6	1124	c.143C>T	c.(142-144)aCc>aTc	p.T48I	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Missense_Mutation_p.T48I	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T48T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATTATTTTCACCATAAGGTCA	0.458000														197			7		0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247040	56247040	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:56247040G>A	uc010wnp.2	+	0	24	c.24G>A	c.(22-24)tgG>tgA	p.W8*		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						ACCTCACGTGGGTATCAGACT	0.473000														102			31		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3216769	3216769	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:3216769G>A	uc022aqr.1	-	20	3599	c.3209C>T	c.(3208-3210)tCc>tTc	p.S1070F	CSMD1_uc011kwj.2_Missense_Mutation_p.S463F|CSMD1_uc003wqe.3_Missense_Mutation_p.S227F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1071	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGGAAGCAGGAAAACGTCAG	0.557000														84			26		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	15967721	15967721	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:15967721C>T	uc010lsu.3	-	9	1347	c.1283G>A	c.(1282-1284)gGt>gAt	p.G428D	MSR1_uc003wwz.3_Missense_Mutation_p.G410D|MSR1_uc003wxa.3_Missense_Mutation_p.G347D	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	410	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCATATTGGACCAGTACCTGC	0.373000														69			18		0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004517	75004517	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:75004517G>A	uc004ecj.2	-	0	563	c.370C>T	c.(370-372)Cag>Tag	p.Q124*		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	124	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCAGGGAACTGATCTGAGTAC	0.493000														5			6		0	0	1	0	0
IL1RAP	3556	broad.mit.edu	37	3	190347254	190347254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:190347254G>A	uc010hzg.2	+	9	1439	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	IL1RAP_uc003fsk.3_Missense_Mutation_p.E340K|IL1RAP_uc003fsl.3_Missense_Mutation_p.E340K|IL1RAP_uc003fsm.2_Missense_Mutation_p.E340K|IL1RAP_uc003fso.2_Missense_Mutation_p.E340K|IL1RAP_uc003fsn.2_Intron|IL1RAP_uc003fsp.2_Intron|IL1RAP_uc003fsq.3_Missense_Mutation_p.E340K	NM_001167928	NP_002173	Q9NPH3	IL1AP_HUMAN	Homo sapiens interleukin 1 receptor accessory protein (IL1RAP), transcript variant 3, mRNA.	340	Ig-like C2-type 3.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TGCCAAAGGCGAAGTTGCCAA	0.428000														18			6		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135027620	135027620	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:135027620C>T	uc001llz.1	+	25	4672	c.4671C>T	c.(4669-4671)acC>acT	p.T1557T		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1557	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCAGCCACACCTCCAAGGTGG	0.597000														29			10		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21107308	21107308	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:21107308G>A	uc002zsz.4	-	24	2957	c.2696C>T	c.(2695-2697)aCc>aTc	p.T899I		NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	899					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GTTCTCCTTGGTCTTGGCCTA	0.532000														254			23		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2597926	2597926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:2597926C>T	uc002wgf.1	+	15	2164	c.2149C>T	c.(2149-2151)Ctc>Ttc	p.L717F	TMC2_uc002wgg.1_Missense_Mutation_p.L701F	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	717						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CATCATGTCCCTCCCACCCTC	0.637000														39			10		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21260958	21260958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:21260958C>T	uc002red.3	-	4	537	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	137	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGCTTCCCTTCTGGAATGGCC	0.512000														321			260		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54735196	54735196	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:54735196G>A	uc003pck.3	+	1	268	c.152G>A	c.(151-153)cGa>cAa	p.R51Q		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	51								p.R51*(1)|p.R51R(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GTCCAGGAACGAGTTTCAGAC	0.383000														86			21		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937874	21937874	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:21937874G>A	uc010tzj.1	-	0		c.2866C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		AAGCCAACATGGATGGTGTGT	0.408000														346			59		0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78082402	78082402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:78082402C>T	uc002jxp.3	+	6	1557	c.1190C>T	c.(1189-1191)cCc>cTc	p.P397L	GAA_uc002jxo.3_Missense_Mutation_p.P397L|GAA_uc002jxq.3_Missense_Mutation_p.P397L	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	397					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GCCCACTTCCCCCTGGTGAGT	0.692000														36			13		0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33331204	33331204	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:33331204G>A	uc002yph.3	+	4	1156	c.796G>A	c.(796-798)Gag>Aag	p.E266K		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	266	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TTTCACGGTGGAGCCTTTCAG	0.537000														83			30		0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79375868	79375868	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:79375868C>T	uc021yaw.1	+	19	2843	c.2652C>T	c.(2650-2652)ttC>ttT	p.F884F	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	884	TSP C-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACCGCTGGTTCCTACAGCACA	0.587000														11			4		0	0	1	0	0
TMCO7	79613	broad.mit.edu	37	16	68934380	68934380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:68934380C>T	uc002ewi.4	+	7	1433	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	474						integral to membrane	binding			endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		TTGATGGATTCCCTGCTTCCA	0.428000														16			60		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640749	57640749	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:57640749C>T	uc002qny.3	+	3	1062	c.706C>T	c.(706-708)Cct>Tct	p.P236S	USP29_uc021vci.1_Missense_Mutation_p.P236S	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	236					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAATGGAAATCCTAACCTAGA	0.413000														37			36		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468694	56468694	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:56468694G>A	uc021wzo.1	-	0	482	c.342C>T	c.(340-342)gtC>gtT	p.V114V	ERC2_uc003dhr.1_Silent_p.V114V	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	114						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGTATGAAAGGACATCTGTGT	0.522000														107			33		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70956757	70956757	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:70956757C>T	uc001swb.4	-	13	3411	c.3381G>A	c.(3379-3381)caG>caA	p.Q1127Q	PTPRB_uc010sto.2_Silent_p.Q1037Q|PTPRB_uc010stp.2_Silent_p.Q1037Q|PTPRB_uc001swc.4_Silent_p.Q1345Q|PTPRB_uc001swa.4_Silent_p.Q1257Q|PTPRB_uc001swd.4_Silent_p.Q1344Q|PTPRB_uc009zrr.2_Silent_p.Q1224Q	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1127	Fibronectin type-III 13.				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)			GAGCTCTCTCCTGGAGATTCC	0.522000														54			13		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11833315	11833315	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:11833315C>T	uc002gne.3	+	62	12078	c.12010C>T	c.(12010-12012)Ccc>Tcc	p.P4004S	DNAH9_uc010coo.3_Intron|DNAH9_uc002gnf.3_Missense_Mutation_p.P316S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4004	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCACATCATCCCCCAGGGCAT	0.587000														30			5		0	0	1	0	0
FNIP2	57600	broad.mit.edu	37	4	159812771	159812771	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:159812771C>T	uc003iqe.4	+	14	3306	c.3123C>T	c.(3121-3123)ctC>ctT	p.L1041L		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	1041					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TTTTACAGCTCTATAAGCTTC	0.383000														19			12		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19970322	19970322	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:19970322C>T	uc010rdm.2	+	10	2771	c.2410C>T	c.(2410-2412)Ctg>Ttg	p.L804L	NAV2_uc001mpp.3_Silent_p.L717L|NAV2_uc001mpr.4_Silent_p.L781L|NAV2_uc021qew.1_Silent_p.L781L	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	804						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						GCCCACACCTCTGTCCTGGAG	0.577000														17			15		0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101044921	101044921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:101044921G>A	uc003dut.3	-	23	3130	c.3019C>T	c.(3019-3021)Cct>Tct	p.P1007S	SENP7_uc003duu.3_Missense_Mutation_p.P942S|SENP7_uc003duv.3_Missense_Mutation_p.P974S|SENP7_uc003duw.3_Missense_Mutation_p.P941S|SENP7_uc003dux.3_Missense_Mutation_p.P843S|SENP7_uc003dus.3_Missense_Mutation_p.P195S	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	1007	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTAACAATAGGATCCTAATGA	0.308000														5			12		0	0	1	0	0
C16orf92	146378	broad.mit.edu	37	16	30035385	30035385	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:30035385C>T	uc002dvr.2	+	2	296	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F	BOLA2_uc010bzb.1_Intron|C16orf92_uc002dvs.2_Missense_Mutation_p.L119F	NM_001109659	NP_001103129	Q96LL3	CP092_HUMAN	Homo sapiens chromosome 16 open reading frame 92 (C16orf92), transcript variant 1, mRNA.	119						integral to membrane				breast(3)|lung(3)	6						CTTCTTTCTCCTTTTCCAGTT	0.587000														50			28		0	0	1	0	0
WNT16	51384	broad.mit.edu	37	7	120979129	120979129	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:120979129A>T	uc003vjw.3	+	3	1085	c.828A>T	c.(826-828)aaA>aaT	p.K276N	WNT16_uc003vjv.3_Missense_Mutation_p.K266N|WNT16_uc010lkl.3_Missense_Mutation_p.K60N	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 1, mRNA.	276					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					ATCAGAGGAAAATACCAATCC	0.378000														13			7		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158261127	158261127	+	Missense_Mutation	SNP	C	T	T	rs145638725		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:158261127C>T	uc001fru.3	+	1	557	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	89					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.R89C(2)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GTTGTTATTTCGTTTCTACCT	0.398000														103			22		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113208295	113208295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:113208295C>T	uc010mtz.3	-	25	4622	c.4285G>A	c.(4285-4287)Gat>Aat	p.D1429N	SVEP1_uc010mua.1_Missense_Mutation_p.D1429N	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1429					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACTTCAAAATCCAGGTTAAAG	0.433000														2			18		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57865753	57865753	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:57865753C>T	uc001snx.3	+	11	3324	c.3230C>T	c.(3229-3231)cCc>cTc	p.P1077L	GLI1_uc021qzi.1_Missense_Mutation_p.P1036L|GLI1_uc009zpq.3_Missense_Mutation_p.P949L	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	1077					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			ACCCCACCTCCCTCTGGGCCC	0.562000														121			19		0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510223	5510223	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5510223C>T	uc010qzg.2	+	0	309	c.287C>T	c.(286-288)tCc>tTc	p.S96F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGAGATTTCCTTTGGTGGA	0.498000														46			33		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80729862	80729862	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:80729862C>T	uc001szd.3	+	37	4521	c.4515C>T	c.(4513-4515)ttC>ttT	p.F1505F		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ACTGTGGTTTCCGAGGAAGGC	0.408000														22			27		0	0	1	0	0
ETV3L	440695	broad.mit.edu	37	1	157068665	157068665	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:157068665G>A	uc001fqq.2	-	2	604	c.319C>T	c.(319-321)Ctg>Ttg	p.L107L		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	Homo sapiens ets variant 3-like (ETV3L), mRNA.	107						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GTCTTATGCAGGATCCTCTTA	0.478000														97			49		0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190925138	190925138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:190925138C>T	uc002urp.3	-	1	530	c.397G>A	c.(397-399)Gga>Aga	p.G133R		NM_005259	NP_005250	O14793	GDF8_HUMAN	Homo sapiens myostatin (MSTN), mRNA.	133					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TTGGGTTTTCCATCCACTTGC	0.328000														23			6		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181687256	181687256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:181687256G>A	uc009wxt.3	+	11	1786	c.1591G>A	c.(1591-1593)Ggg>Agg	p.G531R	CACNA1E_uc001gow.3_Missense_Mutation_p.G531R|CACNA1E_uc009wxs.3_Missense_Mutation_p.G531R	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	531					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GTATGGCATGGGGCCTCGCCT	0.463000														32			16		0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71346721	71346721	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:71346721C>T	uc011cat.2	+	3	548	c.260C>T	c.(259-261)cCt>cTt	p.P87L	MUC7_uc011cau.2_Missense_Mutation_p.P87L|MUC7_uc003hfj.3_Missense_Mutation_p.P87L	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	87						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TTCCCAAATCCTCACCAGCCA	0.463000														34			54		0	0	1	0	0
FOLR4	390243	broad.mit.edu	37	11	94040632	94040632	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:94040632C>T	uc021qou.1	+	3	527	c.527C>T	c.(526-528)tCc>tTc	p.S176F		NM_001199206	NP_001186135	A6ND01	FOLR4_HUMAN	Homo sapiens folate receptor 4 (delta) homolog (mouse) (FOLR4), mRNA.	176						extracellular region	folic acid binding|receptor activity	p.S170C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CTCCCTTTCTCCCATTACTTC	0.587000														16			18		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196673456	196673456	+	Nonsense_Mutation	SNP	T	A	A	rs138256384	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:196673456T>A	uc002utj.4	-	52	10134	c.10033A>T	c.(10033-10035)Aga>Tga	p.R3345*		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3345					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						ATAAACTCTCTACGAATGGTT	0.368000														25			32		0	0	1	0	0
AP2A1	160	broad.mit.edu	37	19	50309455	50309455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:50309455C>T	uc002ppn.3	+	22	3012	c.2801C>T	c.(2800-2802)aCt>aTt	p.T934I	AP2A1_uc002ppo.3_Missense_Mutation_p.T912I|AP2A1_uc010enk.3_Missense_Mutation_p.T65I	NM_014203	NP_055018	O95782	AP2A1_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 1 subunit (AP2A1), transcript variant 1, mRNA.	934				ENFVGAGIIQTKALQVGCLLRLEPNAQAQMYRLTLRTSKEP VSRHLCELLAQQF -> GDREDTRVWGMPGTFLRPFVFLFL FICCCLHSGGLGGVPLPPFPPQAQRGEGPGKWMSPPLPPHP VVAPPTPSPSRGCVLL (in Ref. 4; AAH14214).	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)		ATCATCCAGACTAAAGCCCTG	0.667000														5			6		0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40936447	40936447	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:40936447G>A	uc002ibj.3	+	3	1088	c.1020G>A	c.(1018-1020)ccG>ccA	p.P340P	WNK4_uc010wgx.2_Missense_Mutation_p.R34Q|WNK4_uc002ibk.1_Silent_p.P112P|WNK4_uc010wgy.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	340	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.P340P(1)|p.E329K(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGGGACCCCGGAATTCATGG	0.612000														18			15		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123970430	123970430	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:123970430C>T	uc001lfv.3	+	8	6850	c.6490C>T	c.(6490-6492)Ccc>Tcc	p.P2164S	TACC2_uc001lfw.3_Missense_Mutation_p.P310S|TACC2_uc009xzx.3_Missense_Mutation_p.P2119S|TACC2_uc010qtv.2_Missense_Mutation_p.P2168S|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Missense_Mutation_p.P242S|TACC2_uc001lga.3_Missense_Mutation_p.P242S|TACC2_uc009xzy.3_Missense_Mutation_p.P242S|TACC2_uc001lgb.3_Missense_Mutation_p.P199S|TACC2_uc010qtw.1_Missense_Mutation_p.P259S	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2164						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.P2164H(1)		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)				GAGCCTTGTCCCCAGTGGGGA	0.557000														87			35		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3085292	3085292	+	Silent	SNP	C	T	T	rs144260163	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:3085292C>T	uc003bpc.3	+	22	3054	c.2715C>T	c.(2713-2715)ccC>ccT	p.P905P	CNTN4_uc021wsg.1_Silent_p.P905P|CNTN4_uc003bpe.3_Silent_p.P577P|CNTN4_uc003bpf.3_Silent_p.P576P|CNTN4_uc003bpg.3_Silent_p.P161P	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	905	Fibronectin type-III 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTCAACCCCCCGGAAACATCA	0.373000														22			5		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62284634	62284634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:62284634G>A	uc001ntl.3	-	4	17555	c.17255C>T	c.(17254-17256)tCt>tTt	p.S5752F	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5752					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCTTCCAGAGAGCCCAGGCT	0.483000														40			49		0	0	1	0	0
RASSF1	11186	broad.mit.edu	37	3	50369288	50369288	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:50369288C>T	uc003dad.1	-	4	606	c.475_splice	c.e4-1	p.N159_splice	RASSF1_uc003daa.1_Splice_Site_p.N4_splice|RASSF1_uc003dab.1_Splice_Site_p.N85_splice|RASSF1_uc003dac.2_Splice_Site_p.N4_splice|RASSF1_uc003dae.1_Splice_Site_p.N155_splice|RASSF1_uc003daf.1_Splice_Site_p.N4_splice|RASSF1_uc010hlk.1_Splice_Site	NM_170714	NP_733830	Q9NS23	RASF1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 1 (RASSF1), transcript variant D, mRNA.	159					Ras protein signal transduction|cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein N-terminus binding|protein binding|zinc ion binding			lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CGTCCTTGTTCTAAAGAAATA	0.507000														28			14		0	0	1	0	0
GFM2	84340	broad.mit.edu	37	5	74046460	74046460	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:74046460A>G	uc010izj.1	-	7	885	c.559T>C	c.(559-561)Tgc>Cgc	p.C187R	GFM2_uc003kdh.1_Missense_Mutation_p.C155R|GFM2_uc003kdi.1_Missense_Mutation_p.C155R|GFM2_uc010izk.1_Non-coding_Transcript|GFM2_uc003kdj.1_Missense_Mutation_p.C155R|GFM2_uc010izl.1_Missense_Mutation_p.C113R	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	155					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		ACTCTTAGGCACCGCTCAACC	0.403000														19			10		0	0	1	0	0
ITPKC	80271	broad.mit.edu	37	19	41243613	41243613	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:41243613T>A	uc002oot.3	+	5	1820	c.1787T>A	c.(1786-1788)gTg>gAg	p.V596E		NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA.	596						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CAAAAGTACGTGGCATGCCTA	0.562000														59			45		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196438156	196438156	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:196438156C>T	uc001gtd.1	-	5	487	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	KCNT2_uc009wyt.1_5'Flank|KCNT2_uc001gte.1_Missense_Mutation_p.E143K|KCNT2_uc001gtf.1_Missense_Mutation_p.E143K|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.E143K|KCNT2_uc009wyv.1_Intron	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	143						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						TTAATTATTTCCAAGATGAAG	0.313000														26			5		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42492157	42492157	+	Silent	SNP	G	A	A	rs142806181	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:42492157G>A	uc002osh.3	-	3	442	c.288C>T	c.(286-288)atC>atT	p.I96I	ATP1A3_uc010xwf.2_Silent_p.I107I|ATP1A3_uc010xwg.2_Silent_p.I66I|ATP1A3_uc002osg.3_Silent_p.I96I|ATP1A3_uc010xwh.2_Silent_p.I109I			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	96					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGATAGCCCCGATCCACAGCA	0.652000														91			29		0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26672703	26672703	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:26672703C>T	uc001bmd.4	-	1	596	c.446G>A	c.(445-447)gGg>gAg	p.G149E		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0	Beta/gamma crystallin 'Greek key' 3.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-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;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CTCTCGGGGCCCAGGCAGGGG	0.637000														16			13		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411518	126411518	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:126411518C>T	uc003ifj.4	+	16	13541	c.13541C>T	c.(13540-13542)aCc>aTc	p.T4514I	FAT4_uc011cgp.2_Missense_Mutation_p.T2755I|FAT4_uc003ifi.1_Missense_Mutation_p.T1991I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4514					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCTGCGCAACCGTCTTGGCC	0.572000														42			49		0	0	1	0	0
SEC14L1	6397	broad.mit.edu	37	17	75210084	75210084	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:75210084C>T	uc010dhc.3	+	16	2447	c.2127C>T	c.(2125-2127)tcC>tcT	p.S709S	SEC14L1_uc021udw.1_Silent_p.S709S|SEC14L1_uc021udx.1_Silent_p.S709S|SEC14L1_uc002jto.3_Silent_p.S709S|SEC14L1_uc010wth.2_Silent_p.S709S|SEC14L1_uc002jtm.3_Silent_p.S709S|SEC14L1_uc010wti.2_Silent_p.S675S|SEC14L1_uc010wtj.1_3'UTR|SEC14L1_uc002jtr.2_3'UTR	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	709					transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AGTCCCACTCCAGCTCCATGA	0.672000														58			34		0	0	1	0	0
ZNF177	7730	broad.mit.edu	37	19	9490783	9490783	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9490783C>T	uc021uon.1	+	4	465	c.304C>T	c.(304-306)Cct>Tct	p.P102S	ZNF177_uc002mli.3_Missense_Mutation_p.P102S|ZNF177_uc002mlj.3_Missense_Mutation_p.P102S|ZNF177_uc002mlk.3_Missense_Mutation_p.P102S	NM_001172651	NP_001166122	Q13360	ZN177_HUMAN	Homo sapiens zinc finger protein 177 (ZNF177), transcript variant 1, mRNA.	102					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						GCAGAACATTCCTGGGGGAAA	0.373000														13			15		0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409093	56409093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:56409093C>T	uc001njb.1	-	0	823	c.823G>A	c.(823-825)Gag>Aag	p.E275K	OR8U8_uc001nit.2_Intron	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TTGTCTTGCTCCATTGAGTAG	0.408000														43			27		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382666	22382666	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:22382666A>G	uc001yuc.1	+	6	1175	c.194A>G	c.(193-195)aAc>aGc	p.N65S	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Missense_Mutation_p.N65S	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTTCTGGGCAACTTGGCCTTC	0.463000														207			15		0	0	1	0	0
CHFR	55743	broad.mit.edu	37	12	133434031	133434031	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:133434031G>A	uc001ulf.2	-	8	1146	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	CHFR_uc001ulc.1_Non-coding_Transcript|CHFR_uc001uld.2_Silent_p.I313I|CHFR_uc001ule.2_Silent_p.I342I|CHFR_uc010tbs.1_Silent_p.I354I|CHFR_uc010tbt.1_Silent_p.I262I	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	Homo sapiens checkpoint with forkhead and ring finger domains (CHFR), transcript variant 1, mRNA.	354					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GGTTGTTGAGGATGTGGTTTT	0.622000														34			30		0	0	1	0	0
FAM84A	151354	broad.mit.edu	37	2	14774290	14774290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:14774290C>T	uc021ved.1	+	0	187	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	FAM84A_uc002rbz.2_Missense_Mutation_p.P63S|AX747684_uc002rca.1_5'Flank	NM_145175	NP_660158	Q96KN4	FA84A_HUMAN	Homo sapiens family with sequence similarity 84, member A (FAM84A), mRNA.	63								p.T62P(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			GGGTTGCACCCCCTGCCCGGA	0.647000														28			6		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51413195	51413195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:51413195G>A	uc011bds.2	+	50	5452	c.5429G>A	c.(5428-5430)cGa>cAa	p.R1810Q		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1810						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity	p.R1810Q(2)|p.R1799Q(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AATTTCCAGCGAGCCCTGTTC	0.527000														75			26		0	0	1	0	0
SCFD2	152579	broad.mit.edu	37	4	54139995	54139995	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:54139995G>A	uc003gzu.3	-	3	1443	c.1309C>T	c.(1309-1311)Cag>Tag	p.Q437*	SCFD2_uc010igm.3_Nonsense_Mutation_p.Q437*	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	Homo sapiens sec1 family domain containing 2 (SCFD2), mRNA.	437					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CAACATACCTGAAGAAGGAGC	0.423000														1			38		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141459360	141459360	+	Silent	SNP	C	T	T	rs139951414	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:141459360C>T	uc002tvj.1	-	39	7329	c.6357G>A	c.(6355-6357)acG>acA	p.T2119T		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2119					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)		TCATGGTTATCGTTTCTGTGG	0.413000										TSP Lung(27;0.18)				33			15		0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515755	51515755	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:51515755C>T	uc010ric.2	+	0	474	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q157R(1)|p.Q157H(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CCATACAGATCCTCTTCATCT	0.468000														69			45		0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51749974	51749974	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:51749974T>C	uc010hlv.3	+	3	2424	c.2185T>C	c.(2185-2187)Ttg>Ctg	p.L729L	GRM2_uc003dbo.4_Silent_p.L111L|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	729					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TGCAAGTATGTTGGGCTCGCT	0.612000														48			15		0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18651287	18651287	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:18651287C>T	uc002gul.3	+	1	771	c.539C>T	c.(538-540)tCc>tTc	p.S180F	FBXW10_uc002guj.3_Missense_Mutation_p.S180F|FBXW10_uc002guk.3_Missense_Mutation_p.S180F|FBXW10_uc010cqh.2_Missense_Mutation_p.S180F	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	180										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GTGTGTTTTTCCCCTGAGAAA	0.478000														14			38		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153149864	153149864	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:153149864C>T	uc011dcy.2	+	12	2216	c.2189C>T	c.(2188-2190)tCc>tTc	p.S730F	GRIA1_uc003lva.4_Missense_Mutation_p.S720F|GRIA1_uc003luy.4_Missense_Mutation_p.S720F|GRIA1_uc003luz.4_Missense_Mutation_p.S625F|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.S640F|GRIA1_uc011dcx.2_Missense_Mutation_p.S651F|GRIA1_uc011dcz.2_Missense_Mutation_p.S730F	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	720					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R729W(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTCCTGGAGTCCACCATGAAT	0.502000														42			15		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270844	1270844	+	Silent	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:1270844A>G	uc002cks.3	+	34	7160	c.6912A>G	c.(6910-6912)gaA>gaG	p.E2304E	CACNA1H_uc002ckt.3_Silent_p.E2298E|CACNA1H_uc002cku.3_Silent_p.E999E|CACNA1H_uc010brj.3_Silent_p.E1015E|CACNA1H_uc002ckv.3_Silent_p.E993E	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2304					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGCCCCTGGAACCCCCAGAAT	0.627000														56			22		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034461	52034461	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52034461C>T	uc002pwy.3	-	1	588	c.380G>A	c.(379-381)tGg>tAg	p.W127*	SIGLEC6_uc002pwz.3_Nonsense_Mutation_p.W127*|SIGLEC6_uc010ydb.2_Nonsense_Mutation_p.W91*|SIGLEC6_uc010ydc.2_Nonsense_Mutation_p.W127*|SIGLEC6_uc002pxa.3_Nonsense_Mutation_p.W127*|SIGLEC6_uc010eoz.2_Nonsense_Mutation_p.W127*|SIGLEC6_uc010epa.2_Nonsense_Mutation_p.W116*|SIGLEC6_uc010epb.2_Nonsense_Mutation_p.W80*	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	127					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		p.W116*(1)|p.W127*(1)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GTATTTCATCCATTTGGACTT	0.537000														69			47		0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100261799	100261799	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:100261799G>A	uc021xqi.1	-	6		c.982C>T				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	AGAGGTTCTGGGAATCAGGAG	0.443000														148			89		0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4945021	4945021	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:4945021G>A	uc010qyr.2	-	0	549	c.549C>T	c.(547-549)caC>caT	p.H183H		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	183					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)		TGATCTCCAGGTGAAGACAAT	0.527000														46			9		0	0	1	0	0
FAM131C	348487	broad.mit.edu	37	1	16388684	16388684	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:16388684A>C	uc001axz.4	-	3	368	c.178T>G	c.(178-180)Tgc>Ggc	p.C60G		NM_182623	NP_872429	Q96AQ9	F131C_HUMAN	Homo sapiens family with sequence similarity 131, member C (FAM131C), mRNA.	60										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)		GTCTGGAAGCACCTCTGGAGG	0.662000														8			25		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45394076	45394076	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:45394076C>T	uc001zun.3	-	20	2969	c.2766G>A	c.(2764-2766)gaG>gaA	p.E922E	DUOX2_uc010bea.3_Silent_p.E922E	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	922	EF-hand 3.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity	p.W921C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGTGAAAATCCTCCCATGTCA	0.572000														48			24		0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129861438	129861438	+	Silent	SNP	G	A	A	rs148187282		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:129861438G>A	uc009yat.3	+	10	1167	c.750G>A	c.(748-750)agG>agA	p.R250R	PTPRE_uc001lkb.3_Silent_p.R239R|PTPRE_uc010qup.1_Non-coding_Transcript|PTPRE_uc009yau.2_Silent_p.R239R|PTPRE_uc001lkd.3_Silent_p.R181R|PTPRE_uc010quq.1_Silent_p.R140R	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	239	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TGAAAGAAAGGAAAGAGGTGA	0.502000														23			12		0	0	1	0	0
C16orf7	9605	broad.mit.edu	37	16	89785453	89785453	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:89785453C>T	uc002fom.1	-	1	282	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	C16orf7_uc002fol.1_5'UTR|ZNF276_uc010ciq.3_5'Flank|ZNF276_uc002foq.4_5'Flank|ZNF276_uc010cir.3_5'Flank|ZNF276_uc002for.4_5'Flank|ZNF276_uc010cis.3_5'Flank|ZNF276_uc002fos.4_5'Flank|ZNF276_uc002fot.4_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	53					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GTTTCCACTTCTTCTAGTAAC	0.577000														5			56		0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140301675	140301675	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:140301675C>T	uc010lnk.3	-	2	1043	c.523G>A	c.(523-525)Gca>Aca	p.A175T	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.A175T|DENND2A_uc003vvw.3_Missense_Mutation_p.A175T|DENND2A_uc003vvx.3_Missense_Mutation_p.A175T	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	175										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCCAGCCCTGCCGACCCATCC	0.597000														31			25		0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87763712	87763712	+	Silent	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:87763712A>G	uc003ujn.3	+	12	1361	c.1146A>G	c.(1144-1146)tcA>tcG	p.S382S	ADAM22_uc003ujk.2_Silent_p.S382S|ADAM22_uc003ujl.2_Silent_p.S382S|ADAM22_uc003ujm.3_Silent_p.S382S|ADAM22_uc003ujo.3_Silent_p.S382S|ADAM22_uc003ujp.1_Silent_p.S434S	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	382	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GTATTATCTCAGACAAAAGAA	0.284000														38			16		0	0	1	0	0
ZFP41	286128	broad.mit.edu	37	8	144332511	144332511	+	Silent	SNP	C	T	T	rs139798965	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:144332511C>T	uc003yxw.3	+	1	856	c.498C>T	c.(496-498)acC>acT	p.T166T	ZFP41_uc003yxv.3_Non-coding_Transcript|ZFP41_uc022bcg.1_Silent_p.T166T	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	Homo sapiens zinc finger protein 41 homolog (mouse) (ZFP41), mRNA.	166					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H165H(1)		breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AGACGCACACCGGGGAGAAGC	0.572000														64			40		0	0	1	0	0
PLD3	23646	broad.mit.edu	37	19	40877667	40877667	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:40877667C>T	uc002onm.4	+	8	1164	c.766C>T	c.(766-768)Cag>Tag	p.Q256*	PLD3_uc002onj.4_Nonsense_Mutation_p.Q256*|PLD3_uc002onn.3_Nonsense_Mutation_p.Q256*	NM_001031696	NP_036400	Q8IV08	PLD3_HUMAN	Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 1, mRNA.	256					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding	p.L255L(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GTTCCTGGGCCAGGCAGGCAG	0.577000														31			22		0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62687973	62687973	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:62687973G>A	uc003peg.2	-	3	728	c.481C>T	c.(481-483)Cct>Tct	p.P161S		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		ACACTTACAGGAACCAGGAAT	0.338000														26			14		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295029	29295029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:29295029C>T	uc002rmt.2	-	0	2099	c.2099G>A	c.(2098-2100)gGg>gAg	p.G700E		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	700					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGGAAGCTTCCCAGCTTTGCC	0.517000														134			14		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72020948	72020948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:72020948G>A	uc002atb.1	+	7	1497	c.1418G>A	c.(1417-1419)gGa>gAa	p.G473E	THSD4_uc002atd.1_Missense_Mutation_p.G147E|THSD4_uc010ukg.1_Missense_Mutation_p.G113E|THSD4_uc002ate.2_Missense_Mutation_p.G113E	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	473						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GATCGACCAGGAAAATACGAG	0.522000														93			78		0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79226133	79226133	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:79226133G>A	uc002jzz.1	-	12	2182	c.1807C>T	c.(1807-1809)Ctg>Ttg	p.L603L	SLC38A10_uc002jzy.1_Silent_p.L521L|SLC38A10_uc002kab.3_Silent_p.L603L	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	603					amino acid transport|sodium ion transport	integral to membrane		p.G602D(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGAGGATGCAGGCCCCTGTCT	0.662000														22			22		0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57354437	57354437	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:57354437C>T	uc003xsz.2	-	1	279	c.198G>A	c.(196-198)aaG>aaA	p.K66K	PENK_uc003xta.3_Silent_p.K66K	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	66					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GCAGGAGCTCCTTGCAGGTTT	0.448000														88			65		0	0	1	0	0
FAM210A	125228	broad.mit.edu	37	18	13681863	13681863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:13681863C>T	uc010dlh.3	-	2	646	c.214G>A	c.(214-216)Gat>Aat	p.D72N	FAM210A_uc010dlg.3_Missense_Mutation_p.D72N|FAM210A_uc010dli.3_Missense_Mutation_p.D72N|FAM210A_uc002ksj.4_Missense_Mutation_p.D72N|FAM210A_uc010dlj.3_Intron	NM_001098801	NP_689565	Q96ND0	CR019_HUMAN	Homo sapiens family with sequence similarity 210, member A (FAM210A), transcript variant 1, mRNA.	72						integral to membrane											GGATGAGCATCCAATGGCCTC	0.478000														9			65		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32025965	32025965	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:32025965C>T	uc003nzl.2	-	21	7897	c.7695G>A	c.(7693-7695)gcG>gcA	p.A2565A		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2625					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAACACGCACCGCCTGGGGCC	0.677000														277			143		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13769101	13769101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:13769101G>A	uc003jfd.2	-	57	9907	c.9865C>T	c.(9865-9867)Cca>Tca	p.P3289S	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3289	Stalk (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)					TCTAAAGCTGGTTTTGCTGCT	0.458000									Kartagener syndrome					49			117		0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	648658	648658	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:648658G>A	uc003gap.3	+	5	1026	c.973G>A	c.(973-975)Gag>Aag	p.E325K	PDE6B_uc003gao.4_Missense_Mutation_p.E325K|PDE6B_uc011buy.2_Missense_Mutation_p.E46K|BC020343_uc003gaq.1_Intron	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	325	GAF 2.				GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CCACGGCAAGGAGGAGATCAA	0.612000														9			37		0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123848249	123848249	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:123848249G>A	uc001pzm.1	-	0	150	c.150C>T	c.(148-150)atC>atT	p.I50I		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CAGCCACAGTGATGCTGTAGA	0.537000														12			7		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904101	5904101	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:5904101G>A	uc002wmg.3	+	3	1617	c.1311G>A	c.(1309-1311)gaG>gaA	p.E437E	CHGB_uc010zqz.2_Silent_p.E120E	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	437						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCAGAGAAGAGAAAAGGTTCT	0.542000														101			19		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115769380	115769380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:115769380C>T	uc003ibu.3	-	8	2610	c.1931G>A	c.(1930-1932)gGa>gAa	p.G644E	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	644	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCAGTCTATTCCTTTGTGATA	0.333000														56			16		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189874904	189874904	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:189874904G>A	uc002uqj.1	+	49	3941	c.3824_splice	c.e49-1	p.G1275_splice		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1275	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GACTATTCAGGAGAATACTGG	0.358000														25			11		0	0	1	0	0
SLC25A47	283600	broad.mit.edu	37	14	100793623	100793623	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:100793623C>T	uc001yhc.3	+	3	316	c.243C>T	c.(241-243)atC>atT	p.I81I	SLC25A47_uc001yhd.3_5'UTR	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	Homo sapiens solute carrier family 25, member 47 (SLC25A47), nuclear gene encoding mitochondrial protein, mRNA.	81					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						TGGCGCACATCTGCCGGCTCC	0.677000														44			42		0	0	1	0	0
PHC1	1911	broad.mit.edu	37	12	9074316	9074316	+	Silent	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:9074316C>A	uc001qvd.3	+	4	582	c.426C>A	c.(424-426)ctC>ctA	p.L142L	PHC1_uc001qvc.1_Silent_p.L105L|PHC1_uc010sgn.1_Silent_p.L142L|PHC1_uc001qve.3_Silent_p.L142L	NM_004426	NP_004417	P78364	PHC1_HUMAN	Homo sapiens polyhomeotic homolog 1 (Drosophila) (PHC1), mRNA.	142					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CCCCACCCCTCAACCAGTCTC	0.577000														40			23		2.14196e-07	2.15079e-07	1	1	0
NOS2	4843	broad.mit.edu	37	17	26089931	26089931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:26089931G>A	uc002gzu.3	-	21	2957	c.2693C>T	c.(2692-2694)tCc>tTc	p.S898F		NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	898	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GGGGAGCTGGGAAAGCAGGAA	0.597000														16			7		0	0	1	0	0
RAB6B	51560	broad.mit.edu	37	3	133557034	133557034	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:133557034C>T	uc003epy.3	-	5	852	c.471G>A	c.(469-471)gcG>gcA	p.A157A	RAB6B_uc011blu.1_Silent_p.A144A	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN	Homo sapiens RAB6B, member RAS oncogene family (RAB6B), mRNA.	157					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	Golgi membrane|cytoplasmic membrane-bounded vesicle	GTP binding|GTPase activity|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						AGCCAGTCTTCGCACTGGTCT	0.617000														122			32		0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245850988	245850988	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:245850988C>G	uc001ibf.1	+	11	5143	c.4703C>G	c.(4702-4704)tCg>tGg	p.S1568W	KIF26B_uc001ibg.1_Missense_Mutation_p.S1186W|KIF26B_uc001ibh.1_Missense_Mutation_p.S810W	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1568					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GGTGCAGCCTCGGGCACCCCG	0.672000														15			5		0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61026612	61026612	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:61026612G>A	uc001nra.3	-	19	2682	c.2403C>T	c.(2401-2403)ctC>ctT	p.L801L	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	801						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTCTTAAAAGGAGCTGGAGGA	0.572000														42			9		0	0	1	0	0
KDM4E	390245	broad.mit.edu	37	11	94759406	94759407	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:94759406_94759407CC>TT	uc010ruf.1	+	0	985_986	c.685_686CC>TT	c.(685-687)cca>TTa	p.P229L		NM_001161630	NP_001155102	B2RXH2	KD4DL_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D-like (KDM4DL), mRNA.	229	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						GGAGCTCTTCCCAGACATTTCT	0.550000														12			5		0	0	1	0	0
SPSB1	80176	broad.mit.edu	37	1	9416028	9416028	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:9416028C>T	uc010oae.2	+	1	417	c.78C>T	c.(76-78)ctC>ctT	p.L26L	SPSB1_uc001apv.3_Silent_p.L26L	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 1 (SPSB1), mRNA.	26					intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		AGCAGGAGCTCCAGGGTCTGG	0.577000														52			31		0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18234137	18234137	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:18234137C>T	uc001rdq.3	-	5	800	c.606G>A	c.(604-606)agG>agA	p.R202R		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	202	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						AAACAGATTTCCTTCTCTTTC	0.333000														22			8		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121994834	121994834	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:121994834G>A	uc003eew.4	+	4	1991	c.1553G>A	c.(1552-1554)gGa>gAa	p.G518E	CASR_uc003eev.4_Missense_Mutation_p.G518E	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	518					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCCAAGAAGGGAGAAAGACTC	0.517000														41			67		0	0	1	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834834	27834834	+	Silent	SNP	C	T	T	rs143393068	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:27834834C>T	uc003njx.3	-	0	526	c.474G>A	c.(472-474)aaG>aaA	p.K158K		NM_005322	NP_005313	P16401	H15_HUMAN	Homo sapiens histone cluster 1, H1b (HIST1H1B), mRNA.	158					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCTTCTTCGCCTTCTTCGGAG	0.607000														101			125		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584480	138584480	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:138584480G>A	uc003qhu.3	+	11	2031	c.1860G>A	c.(1858-1860)aaG>aaA	p.K620K		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	620	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAGCAGAAAAGGACTCGGGCA	0.522000														65			39		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948548	119948548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:119948548G>A	uc010inb.3	+	2	1220	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	SYNPO2_uc010ina.3_Missense_Mutation_p.E342K|SYNPO2_uc003icm.4_Missense_Mutation_p.E342K|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.E270K	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	342						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCACGCTCGGAAAAAGATCA	0.562000														21			27		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142572875	142572875	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142572875C>T	uc003wbx.2	-	8	1394	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	TRPV6_uc003wbw.1_Missense_Mutation_p.E175K|TRPV6_uc010lou.1_Missense_Mutation_p.E260K	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	389					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTCACCAGCTCCCCGACCAGC	0.562000														57			35		0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	618056	618056	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:618056G>A	uc001lql.3	-	13	2283	c.2016C>T	c.(2014-2016)ggC>ggT	p.G672G	IRF7_uc009ycb.3_5'Flank|IRF7_uc010qwf.2_5'Flank|IRF7_uc001lqf.3_5'Flank|IRF7_uc010qwg.2_5'Flank|IRF7_uc001lqg.3_5'Flank|IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Silent_p.G672G|CDHR5_uc009ycd.3_Silent_p.G666G|CDHR5_uc001lqk.3_Silent_p.G478G|CDHR5_uc009ycc.3_Silent_p.G506G	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	672					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CCAGCACCCCGCCCAGGGCCG	0.652000														37			7		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023665	76023665	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:76023665T>C	uc010kbe.3	-	5	2422	c.1892A>G	c.(1891-1893)aAg>aGg	p.K631R	FILIP1_uc003phy.1_Missense_Mutation_p.K628R|FILIP1_uc003phz.3_Missense_Mutation_p.K529R|FILIP1_uc003pia.3_Missense_Mutation_p.K628R|FILIP1_uc003pib.1_Missense_Mutation_p.K380R	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	628								p.E631K(1)|p.K630T(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCCTTAATCTTATTATCTTC	0.403000														51			47		0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10446595	10446595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:10446595G>A	uc003gmn.3	-	2	1845	c.1358C>T	c.(1357-1359)tCc>tTc	p.S453F	ZNF518B_uc021xme.1_Missense_Mutation_p.S453F	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ATTAATGAAGGATTTTCCATT	0.323000														5			19		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101756703	101756703	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:101756703G>A	uc001vox.1	-	24	3021	c.2832C>T	c.(2830-2832)ttC>ttT	p.F944F		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	944						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)					CAGTTGGAGTGAAAAATAAGC	0.368000														42			14		0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86374086	86374086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:86374086G>A	uc010sum.2	-	5	649	c.490C>T	c.(490-492)Cac>Tac	p.H164Y	MGAT4C_uc001tal.4_Missense_Mutation_p.H140Y|MGAT4C_uc001taj.4_Missense_Mutation_p.H140Y|MGAT4C_uc001tak.4_Missense_Mutation_p.H140Y|MGAT4C_uc001tai.4_Missense_Mutation_p.H140Y|MGAT4C_uc001tah.4_Missense_Mutation_p.H140Y	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	140					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.H162_H163>QN(1)|p.H163N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCTGCTAGGTGAACCACCACT	0.373000														34			27		0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207110999	207110999	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:207110999C>T	uc001hez.3	-	3	670	c.486G>A	c.(484-486)agG>agA	p.R162R	PIGR_uc009xbz.3_Silent_p.R162R	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	162	Ig-like V-type 2.					extracellular region|integral to plasma membrane	protein binding	p.K161R(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACAAGGACTTCCTCTTTTGAG	0.478000														21			18		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64492907	64492907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:64492907G>A	uc003jtp.3	-	20	3461	c.2647C>T	c.(2647-2649)Cct>Tct	p.P883S	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	883	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TTACTGTCAGGATCACAGTAA	0.433000														19			18		0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119288073	119288073	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:119288073G>A	uc003pyj.3	-	14	3308	c.2960C>T	c.(2959-2961)cCa>cTa	p.P987L	FAM184A_uc003pyk.4_Missense_Mutation_p.P818L|FAM184A_uc003pyl.4_Missense_Mutation_p.P818L|FAM184A_uc003pyi.3_Non-coding_Transcript	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	987										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TATATCTTCTGGTTTTGATTC	0.299000														11			8		0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18377373	18377373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:18377373G>A	uc010ebn.2	-	2	1193	c.977C>T	c.(976-978)cCc>cTc	p.P326L	KIAA1683_uc002nin.2_Missense_Mutation_p.P326L|KIAA1683_uc010xqe.1_Missense_Mutation_p.P280L	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	326						mitochondrion		p.P326L(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TATCTGGAAGGGGGCTTTGGG	0.567000														47			34		0	0	1	0	0
CATSPER2	117155	broad.mit.edu	37	15	43939270	43939270	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:43939270C>T	uc001zsh.3	-	3	581	c.366G>A	c.(364-366)acG>acA	p.T122T	CATSPER2_uc010bdm.3_Non-coding_Transcript|CATSPER2_uc001zsi.3_Silent_p.T122T|CATSPER2_uc001zsj.3_Silent_p.T122T|CATSPER2_uc001zsk.3_Silent_p.T122T	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	Homo sapiens cation channel, sperm associated 2 (CATSPER2), transcript variant 2, mRNA.	122					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TCAATATGATCGTATTCAAAA	0.438000														41			36		0	0	1	0	0
MYL10	93408	broad.mit.edu	37	7	101267529	101267529	+	Missense_Mutation	SNP	G	C	C	rs146674429	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:101267529G>C	uc003uyr.3	-	1	272	c.94C>G	c.(94-96)Cgg>Ggg	p.R32G		NM_138403	NP_612412	Q9BUA6	MYL10_HUMAN	Homo sapiens myosin, light chain 10, regulatory (MYL10), mRNA.	32						mitochondrion	calcium ion binding	p.R32Q(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						GCTCTTTTCCGAGCTCTTCTC	0.617000														56			24		0	0	1	0	0
THBD	7056	broad.mit.edu	37	20	23029960	23029960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:23029960G>A	uc002wss.3	-	0	342	c.182C>T	c.(181-183)aCa>aTa	p.T61I	THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Missense_Mutation_p.T2I	NM_000361	NP_000352	P07204	TRBM_HUMAN	Homo sapiens thrombomodulin (THBD), mRNA.	61	C-type lectin.				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	GGAGCGCACTGTCATTAGGTG	0.672000														11			4		0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51630492	51630492	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51630492C>T	uc010yct.2	+	3	1049	c.954C>T	c.(952-954)ttC>ttT	p.F318F	SIGLEC9_uc002pvu.3_Silent_p.F318F	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	318	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CAGCTGAATTCACCTGCAGAG	0.627000														25			6		0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4713310	4713310	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:4713310C>T	uc002fzc.3	+	8	972	c.846C>T	c.(844-846)atC>atT	p.I282I	PLD2_uc010vsj.2_Silent_p.I139I|PLD2_uc002fzd.3_Silent_p.I282I	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	282	PH.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GCGTGCGGATCGATACCTCCC	0.607000														35			13		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42224740	42224740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:42224740G>A	uc003ose.2	-	10	3060	c.2497C>T	c.(2497-2499)Ccc>Tcc	p.P833S	TRERF1_uc011duq.1_Missense_Mutation_p.P730S|TRERF1_uc003osb.2_Missense_Mutation_p.P569S|TRERF1_uc003osc.2_Missense_Mutation_p.P569S|TRERF1_uc003osd.2_Missense_Mutation_p.P813S	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	813	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.C833R(1)|p.C833C(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCTGGCCAGGGCTTCCATACC	0.512000														79			9		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49435259	49435259	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49435259G>A	uc001rta.4	-	30	6294	c.6294C>T	c.(6292-6294)gaC>gaT	p.D2098D		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2098					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						GGGCCGGTCGGTCAGTCTTAC	0.652000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				61			23		0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12844398	12844398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:12844398G>A	uc002gnr.4	+	7	935	c.608G>A	c.(607-609)aGt>aAt	p.S203N	ARHGAP44_uc010vvk.2_Missense_Mutation_p.S203N|ARHGAP44_uc010vvl.2_Missense_Mutation_p.S203N|ARHGAP44_uc002gns.4_Missense_Mutation_p.S3N|ARHGAP44_uc010vvm.2_Missense_Mutation_p.S203N|ARHGAP44_uc010vvn.2_Non-coding_Transcript	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	203	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GATATGTACAGTTTTGTGGCC	0.413000														44			13		0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116426373	116426373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:116426373G>A	uc003yny.3	-	6	4341	c.3763C>T	c.(3763-3765)Cct>Tct	p.P1255S	TRPS1_uc011lhy.2_Missense_Mutation_p.P1246S|TRPS1_uc003ynz.3_Missense_Mutation_p.P1242S|TRPS1_uc010mcy.3_Missense_Mutation_p.P1242S	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	1242	Transcriptional repressor domain (By similarity).				NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CACTGGAAAGGTCCACTGTCA	0.438000									Langer-Giedion syndrome					57			25		0	0	1	0	0
RDH16	8608	broad.mit.edu	37	12	57348785	57348785	+	Silent	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:57348785C>A	uc001smi.4	-	1	649	c.477G>T	c.(475-477)gtG>gtT	p.V159V	RDH16_uc009zpa.3_Intron	NM_003708	NP_003699	O75452	RDH16_HUMAN	Homo sapiens retinol dehydrogenase 16 (all-trans) (RDH16), mRNA.	159					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						AGACGTTGACCACACGGCCCC	0.567000														53			13		9.31168e-06	9.33435e-06	1	1	0
ABLIM2	84448	broad.mit.edu	37	4	8021970	8021971	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:8021970_8021971GG>AA	uc003gko.3	-	11	1371_1372	c.1228_1229CC>TT	c.(1228-1230)ccc>TTc	p.P410F	ABLIM2_uc003gkk.3_Missense_Mutation_p.P73F|ABLIM2_uc003gkl.3_Intron|ABLIM2_uc003gkm.4_Intron|ABLIM2_uc003gkp.3_Intron|ABLIM2_uc003gkq.3_Missense_Mutation_p.P410F|ABLIM2_uc003gkr.3_Intron|ABLIM2_uc003gkj.4_Missense_Mutation_p.P443F|ABLIM2_uc003gks.3_Intron	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	410					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GTAGGTGGAGGGGGGCGGCTTG	0.629000														9			10		0	0	1	0	0
BCO2	83875	broad.mit.edu	37	11	112070428	112070428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:112070428C>T	uc001pnf.3	+	5	860	c.743C>T	c.(742-744)tCc>tTc	p.S248F	BCO2_uc001pne.1_Missense_Mutation_p.S75F|BCO2_uc001png.3_Missense_Mutation_p.S175F|BCO2_uc001pnh.3_Missense_Mutation_p.S214F|BCO2_uc010rwt.2_Missense_Mutation_p.S143F|BCO2_uc009yyn.3_Missense_Mutation_p.S214F|BCO2_uc001pni.3_Missense_Mutation_p.S214F	NM_031938	NP_001032367	Q9BYV7	BCDO2_HUMAN	Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA.	248					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						TCAGGTTTCTCCTATAAGGTT	0.398000														29			17		0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113763639	113763640	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:113763639_113763640CC>TT	uc010yxr.2	+	1	99_100	c.99_100CC>TT	c.(97-102)gtcccg>gtTTcg	p.P34S		NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN	Homo sapiens interleukin 36, alpha (IL36A), mRNA.	34					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						TCATAGCAGTCCCGAGGAAGGA	0.510000														22			11		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106757824	106757824	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106757824G>A	uc021ser.1	-	749		c.19554C>T								Parts of antibodies, mostly variable regions.																		CCTTCCCTGGGGGCTGACGGA	0.547000														61			10		0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39491250	39491250	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:39491250C>T	uc003thb.2	+	8	1495	c.1352C>T	c.(1351-1353)tCc>tTc	p.S451F	POU6F2_uc022acb.1_Missense_Mutation_p.S451F	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	451	Ser-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						tcctcttcttcctcctcatcc	0.547000														22			8		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233190031	233190031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:233190031C>T	uc001hvl.2	-	24	4569	c.4334G>A	c.(4333-4335)cGa>cAa	p.R1445Q	PCNXL2_uc001hvk.1_Missense_Mutation_p.R97Q|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1445						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TTCCAGTCCTCGAAGTTGAAA	0.388000														21			14		0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54687108	54687108	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:54687108C>T	uc009znk.3	-	1	682	c.172G>A	c.(172-174)Gga>Aga	p.G58R	NFE2_uc001sfq.3_Missense_Mutation_p.G58R|NFE2_uc001sfr.4_Missense_Mutation_p.G58R|NFE2_uc009znl.3_Missense_Mutation_p.G58R	NM_006163	NP_006154	Q16621	NFE2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA.	58	Required for interaction with MAPK8 (By similarity).|Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	PML body|actin cytoskeleton|cytoplasm	WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GGTGGAGGTCCAAGGTATGGA	0.532000														51			50		0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58966911	58966911	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58966911G>A	uc002qsv.1	+	3	707	c.600G>A	c.(598-600)caG>caA	p.Q200Q	ZNF324B_uc002qsu.1_Silent_p.Q190Q|ZNF324B_uc010euq.1_Silent_p.Q200Q	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	Homo sapiens zinc finger protein 324B (ZNF324B), mRNA.	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CATGTGCACAGGAGGTCCCTG	0.662000														31			28		0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	129055604	129055604	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:129055604C>T	uc010qun.2	+	28	3019	c.2955C>T	c.(2953-2955)ttC>ttT	p.F985F	DOCK1_uc001ljt.3_Silent_p.F964F	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	964					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTCAGGATTTCCTAATGGAAA	0.353000														9			3		0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118866229	118866229	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:118866229G>A	uc003ecb.1	+	0	1233	c.1193G>A	c.(1192-1194)aGc>aAc	p.S398N	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.S398N	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	398										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TTTGAGGATAGCCAAGTAGAC	0.463000														43			18		0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687190	68687190	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:68687190C>T	uc001jmz.1	+	1	1066	c.516C>T	c.(514-516)atC>atT	p.I172I	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Silent_p.I172I	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	172						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGAGAACCATCCCTGTGCGAA	0.483000														27			51		0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117280369	117280369	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:117280369C>T	uc001prc.3	+	29	3931	c.3784C>T	c.(3784-3786)Cac>Tac	p.H1262Y	CEP164_uc001prb.3_Missense_Mutation_p.H1257Y|CEP164_uc001prf.3_Intron|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Missense_Mutation_p.H687Y	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	1262					DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CCGCAAGATCCACGGGCTTAG	0.617000														43			32		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322804	55322804	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55322804C>T	uc010rig.2	+	0	1022	c.1022C>T	c.(1021-1023)aCt>aTt	p.T341I		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTGATTTACACTTTCAGGAAT	0.338000										HNSCC(20;0.049)				47			23		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93979289	93979289	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:93979289G>A	uc003poe.3	-	6	1780	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	EPHA7_uc003pof.3_Silent_p.F513F|EPHA7_uc011eac.2_Silent_p.F513F	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	513	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCCGAATCTGGAAAACATACA	0.398000														28			20		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13737596	13737596	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:13737596C>T	uc003jfd.2	-	65	11262	c.11220G>A	c.(11218-11220)gaG>gaA	p.E3740E	DNAH5_uc003jfc.2_Intron	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3740	AAA 5 (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)					TTCTTTCTTTCTCCAATTCCT	0.368000									Kartagener syndrome					17			30		0	0	1	0	0
SLC24A1	9187	broad.mit.edu	37	15	65931988	65931988	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:65931988T>G	uc010ujf.2	+	3	2287	c.2000T>G	c.(1999-2001)aTc>aGc	p.I667S	SLC24A1_uc010ujd.1_Missense_Mutation_p.I649S|SLC24A1_uc010uje.1_Missense_Mutation_p.I649S|SLC24A1_uc010ujg.2_Missense_Mutation_p.I667S|SLC24A1_uc010ujh.2_Missense_Mutation_p.I649S	NM_004727	NP_004718	O60721	NCKX1_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.	667					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						AACAGCACCATCCGCAGCACC	0.622000														10			5		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43763273	43763273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:43763273G>A	uc002owd.4	-	3	823	c.724C>T	c.(724-726)Ccc>Tcc	p.P242S	PSG9_uc002owe.4_Intron|PSG9_uc010xwm.2_Missense_Mutation_p.P149S|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.	242	Ig-like C2-type 2.				female pregnancy	extracellular region		p.P242T(2)		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)				GTGATGTAGGGGATGGGCAGC	0.478000														203			57		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8421934	8421934	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:8421934C>T	uc001ape.3	-	17	2715	c.1905G>A	c.(1903-1905)aaG>aaA	p.K635K	RERE_uc001apf.3_Silent_p.K635K|RERE_uc010nzx.1_Silent_p.K367K|RERE_uc001apd.3_Silent_p.K81K	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	635					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CCTCCTTCACCTTCTGCAGGG	0.552000														28			10		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129905442	129905442	+	Silent	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:129905442A>G	uc001lke.3	-	12	4857	c.4662T>C	c.(4660-4662)ttT>ttC	p.F1554F	MKI67_uc001lkf.3_Silent_p.F1194F|MKI67_uc009yav.1_Silent_p.F1129F|MKI67_uc009yaw.1_Silent_p.F704F	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1554	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GAGTTCCCATAAATGCGTAGA	0.483000														68			139		0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64394657	64394657	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:64394657C>T	uc003pep.1	+	2	1059	c.1034C>T	c.(1033-1035)tCt>tTt	p.S345F	PHF3_uc010kaf.1_Missense_Mutation_p.S345F|PHF3_uc003pem.2_Missense_Mutation_p.S298F|PHF3_uc010kag.1_Missense_Mutation_p.S257F|PHF3_uc010kah.1_Missense_Mutation_p.S159F|PHF3_uc003pen.2_Missense_Mutation_p.S257F|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Missense_Mutation_p.S345F	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	345					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TCTGATATTTCTAGTGATGCT	0.363000														27			9		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72680510	72680510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:72680510C>T	uc001sxa.3	+	1	859	c.829C>T	c.(829-831)Cct>Tct	p.P277S		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	277					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AAAGGCATTTCCTTGTTTTGA	0.363000														77			22		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14746951	14746951	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:14746951G>A	uc003zlm.3	-	34	6924	c.6108C>T	c.(6106-6108)atC>atT	p.I2036I	FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Silent_p.I572I	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	2036					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.I2037I(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTTTCCAGGCGATCCCATTGC	0.488000														12			6		0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160677690	160677690	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:160677690T>C	uc003qtf.3	-	1	648	c.474A>G	c.(472-474)gtA>gtG	p.V158V	SLC22A2_uc003qth.2_Silent_p.V158V	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	158					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TAAAGAATCCTACATTCACTG	0.453000														45			27		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140263768	140263768	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140263768G>A	uc003lif.2	+	0	1915	c.1915G>A	c.(1915-1917)Gag>Aag	p.E639K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.E639K|PCDHAC2_uc003lid.3_Missense_Mutation_p.E639K	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	650	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCTGGACGAGGTGGACGC	0.682000														59			18		0	0	1	0	0
GPR174	84636	broad.mit.edu	37	X	78427144	78427144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:78427144G>A	uc004edg.1	+	0	676	c.640G>A	c.(640-642)Gat>Aat	p.D214N		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	214						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.D214N(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						ATCACTGCAAGATAAATATCC	0.428000										HNSCC(63;0.18)				21			20		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8175897	8175897	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:8175897G>A	uc003wsh.4	-	4	3988	c.3988C>T	c.(3988-3990)Cgc>Tgc	p.R1330C		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	1330							ATP binding|non-membrane spanning protein tyrosine kinase activity										ACCAGCTCGCGCCGAGGCCCC	0.662000														65			31		0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43533451	43533451	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:43533451G>A	uc003ovp.3	-	7	1068	c.857C>T	c.(856-858)cCc>cTc	p.P286L		NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	Homo sapiens exportin 5 (XPO5), mRNA.	286					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GACCATCAAGGGCTTCCGGTC	0.373000														13			5		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476800	120476800	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:120476800G>A	uc004bjz.3	+	2	2685	c.2394G>A	c.(2392-2394)gaG>gaA	p.E798E	TLR4_uc004bkb.3_Silent_p.E598E|TLR4_uc004bka.3_Silent_p.E758E	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	798	TIR.				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.E798*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGGAGTGGGAGGACAGTGTCC	0.542000														46			22		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179733900	179733900	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179733900G>A	uc002une.2	-	14	2456	c.2338C>T	c.(2338-2340)Cag>Tag	p.Q780*	CCDC141_uc002unf.1_Nonsense_Mutation_p.Q259*	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	205							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCGTAATCCTGGATTCTCTCT	0.418000														38			13		0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27456587	27456587	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:27456587C>T	uc002dor.2	+	7	1389	c.841C>T	c.(841-843)Cca>Tca	p.P281S	IL21R_uc002doq.2_Missense_Mutation_p.P259S|IL21R_uc002dos.2_Missense_Mutation_p.P259S	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	259					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GAAGACCCATCCATTGTGGAG	0.552000			T	BCL6	NHL									19			9		0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80638562	80638562	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:80638562C>T	uc003khl.4	-	10	1112	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	RNU5E-1_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	353	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		ACATTGCTGTCACTCAGGGAT	0.403000														32			31		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250388	140250388	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140250388C>T	uc003lia.2	+	0	2558	c.1700C>T	c.(1699-1701)aCt>aTt	p.T567I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.T567I	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	582	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTGGCGACTCAGGCTGGC	0.687000														40			101		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55263828	55263828	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55263828G>A	uc002qgx.3	+	7	920	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	KIR3DL2_uc010yfj.2_5'Flank|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron	NM_015868	NP_056952	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 (KIR2DL3), mRNA.	294					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GGACTCTGATGAACAAGACCC	0.527000														61			62		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73458247	73458247	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:73458247C>T	uc003tzw.3	+	8	557	c.466C>T	c.(466-468)Cca>Tca	p.P156S	ELN_uc003tzm.1_Intron|ELN_uc003tzn.3_Missense_Mutation_p.P156S|ELN_uc003tzy.3_Missense_Mutation_p.P151S|ELN_uc003tzz.3_Missense_Mutation_p.P144S|ELN_uc003tzo.3_Missense_Mutation_p.P156S|ELN_uc003tzp.3_Missense_Mutation_p.P146S|ELN_uc003tzq.3_Intron|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Missense_Mutation_p.P156S|ELN_uc003tzt.3_Missense_Mutation_p.P161S|ELN_uc003tzu.3_Missense_Mutation_p.P161S|ELN_uc003tzv.3_Missense_Mutation_p.P146S|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.P146S|ELN_uc011kff.2_Missense_Mutation_p.P156S	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	156					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGGCGTGCTCCCAGGTGAGAG	0.572000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							24			18		0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32562880	32562880	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:32562880C>A	uc001wrl.3	+	1	3244	c.3005C>A	c.(3004-3006)cCa>cAa	p.P1002Q	ARHGAP5_uc001wrm.3_Missense_Mutation_p.P1002Q|ARHGAP5_uc001wrn.3_Missense_Mutation_p.P1002Q|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	1002					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CAGTTGCTTCCAACACCTAGT	0.418000														53			50		1.17673e-23	1.19164e-23	1	1	0
MUC2	4583	broad.mit.edu	37	11	1101122	1101122	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:1101122C>T	uc001lsx.1	+	42	7536	c.7509C>T	c.(7507-7509)ctC>ctT	p.L2503L		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4869						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCACCTACCTCGCCACGGAGG	0.617000														67			15		0	0	1	0	0
NLN	57486	broad.mit.edu	37	5	65081739	65081739	+	Splice_Site	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:65081739T>C	uc003juf.3	+	7	1136	c.958_splice	c.e7+2	p.D320_splice	NLN_uc003jue.3_Splice_Site_p.D320_splice|NLN_uc010iww.3_Splice_Site_p.D15_splice	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	Homo sapiens neurolysin (metallopeptidase M3 family) (NLN), nuclear gene encoding mitochondrial protein, mRNA.	320					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		CCTTTCTAGGTTAGTTCTTTT	0.423000														17			10		0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239176773	239176773	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:239176773C>T	uc002vyc.3	-	7	1128	c.891G>A	c.(889-891)aaG>aaA	p.K297K	PER2_uc010znv.1_Silent_p.K297K|PER2_uc010znw.1_Silent_p.K297K|PER2_uc010fyx.1_Silent_p.K297K	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	297					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)		GGTCCCGCACCTTGACCAGGT	0.572000														25			11		0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115580660	115580660	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:115580660G>A	uc003vhj.2	-	7	1242	c.989C>T	c.(988-990)tCc>tTc	p.S330F	TFEC_uc003vhm.2_Missense_Mutation_p.S263F|TFEC_uc003vhk.2_Missense_Mutation_p.S301F|TFEC_uc003vhl.4_3'UTR|TFEC_uc011kmw.2_3'UTR	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	330	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GCTTTCTTTGGAAACTGCAGG	0.408000														33			46		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80735793	80735793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:80735793G>A	uc001szd.3	+	42	5095	c.5089G>A	c.(5089-5091)Gaa>Aaa	p.E1697K		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TACAAATATGGAAGACATAGG	0.338000														17			6		0	0	1	0	0
GDAP2	54834	broad.mit.edu	37	1	118424453	118424453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:118424453G>A	uc001ehf.3	-	11	1593	c.1294C>T	c.(1294-1296)Cgt>Tgt	p.R432C	GDAP2_uc001ehg.3_Missense_Mutation_p.R432C	NM_017686	NP_060156	Q9NXN4	GDAP2_HUMAN	Homo sapiens ganglioside induced differentiation associated protein 2 (GDAP2), transcript variant 1, mRNA.	432	CRAL-TRIO.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		ACCTTTGAACGAAATGTGGGA	0.328000														77			16		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120906827	120906827	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:120906827C>T	uc003vjq.4	+	19	3045	c.2598C>T	c.(2596-2598)tcC>tcT	p.S866S		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	866						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					GGCTTAATTCCAATCACCTGC	0.368000														53			17		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21484001	21484001	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:21484001G>A	uc002kuq.3	+	49	6509	c.6423G>A	c.(6421-6423)gaG>gaA	p.E2141E	LAMA3_uc002kur.3_Silent_p.E2085E|LAMA3_uc002kus.4_Silent_p.E532E|LAMA3_uc002kut.4_Silent_p.E476E	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2141	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)	TTGTGGAGGAGGCAGAAAAGC	0.498000														38			12		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480770	57480770	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:57480770C>T	uc009vzx.1	-	11	1550	c.1230G>A	c.(1228-1230)atG>atA	p.M410I	DAB1_uc001cyt.1_Missense_Mutation_p.M408I|DAB1_uc001cyq.1_Missense_Mutation_p.M408I|DAB1_uc001cyr.1_Missense_Mutation_p.M324I|DAB1_uc009vzw.1_Missense_Mutation_p.M392I|DAB1_uc001cys.1_Missense_Mutation_p.M410I	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	443					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						TTTCTTTGCCCATTTTCTGCC	0.612000														3			35		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26709787	26709787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:26709787C>T	uc003acb.3	+	8	2130	c.1934C>T	c.(1933-1935)cCc>cTc	p.P645L	SEZ6L_uc003acd.3_Missense_Mutation_p.P645L|SEZ6L_uc011akd.2_Missense_Mutation_p.P645L|SEZ6L_uc003ace.3_Missense_Mutation_p.P645L|SEZ6L_uc011akc.2_Missense_Mutation_p.P645L|SEZ6L_uc003acc.3_Missense_Mutation_p.P645L|SEZ6L_uc003acf.1_Missense_Mutation_p.P418L|SEZ6L_uc010gvc.1_Missense_Mutation_p.P418L	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	645	CUB 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCAAACTGGCCCGAGCCCTAC	0.483000														71			21		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48391906	48391906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:48391906C>T	uc003toq.2	+	30	10534	c.10510C>T	c.(10510-10512)Cct>Tct	p.P3504S	ABCA13_uc010kys.1_Missense_Mutation_p.P578S|ABCA13_uc003tos.1_Missense_Mutation_p.P330S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3504					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						GGTAAAAAACCCTTCTTGGAA	0.448000														54			40		0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5757749	5757749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5757749G>A	uc001mbt.2	+	0	72	c.3G>A	c.(1-3)atG>atA	p.M1I	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|OR56B1_uc001mbs.1_Missense_Mutation_p.M1I|OR56B1_uc009yev.1_Missense_Mutation_p.M1I	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GTTGAATCATGAATCATATGT	0.388000														61			16		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140788367	140788367	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140788367C>T	uc003lkj.2	+	0	598	c.598C>T	c.(598-600)Cta>Tta	p.L200L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Silent_p.L200L	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	200	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAAACTCCTAGACCGGGA	0.403000														15			5		0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7120680	7120680	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:7120680C>T	uc002mgd.1	-	19	3719	c.3610G>A	c.(3610-3612)Gca>Aca	p.A1204T	INSR_uc002mge.1_Missense_Mutation_p.A1192T	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	1204	Protein kinase.				G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GACTCCGGTGCCATCCACCGT	0.527000														178			70		0	0	1	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276950	71276950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:71276950C>T	uc001oqt.1	+	0	342	c.317C>T	c.(316-318)tCt>tTt	p.S106F		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	106	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGCTGTGGTTCTTGTGGGGGC	0.677000														68			54		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065944	9065945	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9065944_9065945CC>TT	uc002mkp.3	-	2	21705_21706	c.21501_21502GG>AA	c.(21499-21504)aaggac>aaAAac	p.D7168N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7170	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.K7167N(3)|p.K2800N(1)		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						TTTGTGGTGTCCTTGCCAGTGG	0.510000														50			41		0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5462260	5462260	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5462260G>A	uc010qze.2	-	0	524	c.485C>T	c.(484-486)cCt>cTt	p.P162L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P162L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCACAAAAGGGAAAGGGAA	0.463000														39			31		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129618920	129618920	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:129618920G>A	uc021zfb.1	+	20	3052	c.2947G>A	c.(2947-2949)Gga>Aga	p.G983R	LAMA2_uc003qbn.3_Missense_Mutation_p.G983R|LAMA2_uc003qbo.3_Missense_Mutation_p.G983R	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	983	Laminin EGF-like 10.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGAAGAGAGTGGACAATGTTG	0.512000														13			13		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175116091	175116091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:175116091G>A	uc001gkl.1	+	18	3897	c.3784G>A	c.(3784-3786)Gga>Aga	p.G1262R		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1262	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCTTGGAAAGGACATGAATT	0.507000											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			30		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34008484	34008484	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:34008484C>T	uc001bxm.1	-	57	9290	c.9113G>A	c.(9112-9114)gGg>gAg	p.G3038E	CSMD2_uc001bxn.1_Missense_Mutation_p.G2894E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3013	Sushi 23.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCCAGGGTTCCCACAAGAGAT	0.493000														2			9		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45833925	45833925	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:45833925C>T	uc010gpt.1	+	19	3214	c.3114C>T	c.(3112-3114)atC>atT	p.I1038I	TRPM2_uc002zet.1_Silent_p.I1038I|TRPM2_uc002zeu.1_Silent_p.I1038I|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.I1038I|TRPM2_uc002zex.1_Silent_p.I824I|TRPM2_uc002zey.1_Silent_p.I551I	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1038						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCACCAACATCCTGCTGCTCA	0.657000														162			122		0	0	1	0	0
METTL7B	196410	broad.mit.edu	37	12	56075839	56075839	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:56075839C>T	uc010spr.2	+	0	510	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S		NM_152637	NP_689850	Q6UX53	MET7B_HUMAN	Homo sapiens methyltransferase like 7B (METTL7B), mRNA.	101							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						AGACCCAAATCCCCACTTTGA	0.582000														47			14		0	0	1	0	0
CXCR7	57007	broad.mit.edu	37	2	237489334	237489334	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:237489334G>A	uc021vys.1	+	0	226	c.226G>A	c.(226-228)Ggc>Agc	p.G76S	CXCR7_uc010fyq.3_Missense_Mutation_p.G76S|CXCR7_uc002vwd.3_Missense_Mutation_p.G76S	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	76					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		CAAGACCACAGGCTATGACAC	0.537000														15			14		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69703791	69703791	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:69703791C>T	uc010kak.3	+	9	2142	c.1866C>T	c.(1864-1866)atC>atT	p.I622I	BAI3_uc003pev.4_Silent_p.I622I	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	622					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E621D(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTGTGGAGATCCTGAGAAATG	0.458000														74			29		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179404579	179404579	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179404579C>T	uc021vsy.1	-	300	90734	c.90509G>A	c.(90508-90510)tGg>tAg	p.W30170*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W23865*|TTN_uc021vta.1_Nonsense_Mutation_p.W23798*|TTN_uc021vtb.1_Nonsense_Mutation_p.W23673*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31097	Fibronectin type-III 120.						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)			TTCCTTGGTCCATTTACATAT	0.433000														21			36		0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117053534	117053534	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:117053534G>A	uc011mtp.2	-	4	662	c.529C>T	c.(529-531)Cta>Tta	p.L177L	KLHL13_uc004eqk.3_Silent_p.L123L|KLHL13_uc004eql.3_Silent_p.L174L|KLHL13_uc011mtn.2_Silent_p.L14L|KLHL13_uc011mto.2_Silent_p.L168L|KLHL13_uc011mtq.2_Silent_p.L158L|KLHL13_uc004eqm.3_Silent_p.L132L|KLHL13_uc022cde.1_Silent_p.L158L	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	174					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGAATCTGTAGGAAACTGGCA	0.388000														2			54		0	0	1	0	0
TMEM187	8269	broad.mit.edu	37	X	153248286	153248286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:153248286G>A	uc022cic.1	+	0	773	c.773G>A	c.(772-774)gGg>gAg	p.G258E	TMEM187_uc004fjq.2_Missense_Mutation_p.G258E|MIR3202-2_uc022cib.1_5'Flank	NM_003492	NP_003483	Q14656	TM187_HUMAN	Homo sapiens transmembrane protein 187 (TMEM187), mRNA.	258						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCTCTGGCGGGAAGACGCGT	0.537000														29			13		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19067875	19067875	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:19067875C>T	uc002dfp.2	+	13	2013	c.1883C>T	c.(1882-1884)tCg>tTg	p.S628L	TMC7_uc002dfq.3_Missense_Mutation_p.S628L|TMC7_uc010vap.2_Missense_Mutation_p.S518L	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	628						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ATCCCTTCCTCGAAAGCCTGT	0.577000														31			22		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	72175	72175	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrGL000209.1:72175C>T	uc002qui.2	+	2	336	c.325C>T	c.(325-327)Ccc>Tcc	p.P109S	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc010yic.2_Missense_Mutation_p.P106S|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.	23					regulation of immune response	integral to membrane|plasma membrane	receptor activity										GTGGTCGGCACCCAGCAACCC	0.592000														6			52		0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74729448	74729448	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:74729448C>T	uc002fdb.2	-	1	649	c.208G>A	c.(208-210)Gag>Aag	p.E70K	MLKL_uc002fdc.2_Missense_Mutation_p.E70K	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	70							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TTAGCCTCCTCCAGGGCAGCC	0.507000														15			18		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1279403	1279403	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:1279403G>A	uc001lta.3	+	41	16584	c.16525G>A	c.(16525-16527)Gag>Aag	p.E5509K		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	5509					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)		CACCCAGGAGGAGGGCGACTG	0.697000														12			4		0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121354633	121354633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:121354633C>T	uc003eeh.4	-	8	765	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	HCLS1_uc011bjj.2_Missense_Mutation_p.E177K|HCLS1_uc011bjk.1_Non-coding_Transcript	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	214					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	p.E214D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		GCCTCCATTTCATTGAAGCCG	0.567000														61			27		0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32491824	32491824	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:32491824C>T	uc001rku.3	+	7	2756	c.2675C>T	c.(2674-2676)tCa>tTa	p.S892L	BICD1_uc001rkv.3_Intron|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	892					RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TCCACAGAATCATTTCTTCTG	0.493000														84			52		0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21445169	21445169	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:21445169G>A	uc001rer.3	-	10	1790	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	SLCO1A2_uc010siq.2_Silent_p.F381F|SLCO1A2_uc001res.3_Silent_p.F513F|SLCO1A2_uc010sio.2_Silent_p.F381F|SLCO1A2_uc010sip.2_Silent_p.F381F|SLCO1A2_uc001ret.3_Silent_p.F511F	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	513					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						ACAAGATTAGGAAGTACTGGA	0.383000														17			3		0	0	1	0	0
PRKAR1B	5575	broad.mit.edu	37	7	750996	750996	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:750996G>A	uc003siu.2	-	1	280	c.147C>T	c.(145-147)ttC>ttT	p.F49F	PRKAR1B_uc021zyi.1_Silent_p.F49F|PRKAR1B_uc003siv.3_Silent_p.F49F|PRKAR1B_uc021zyj.1_Silent_p.F49F|PRKAR1B_uc021zyk.1_Silent_p.F49F|PRKAR1B_uc003siw.2_Silent_p.F49F	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	49	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GCTCCCGGAGGAACTTCATGG	0.647000														124			16		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1214132	1214132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:1214132C>T	uc003jbw.4	+	5	895	c.839C>T	c.(838-840)tCc>tTc	p.S280F		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	280					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTCTCCTTCTCCCTGGCCTTC	0.642000														34			59		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31320165	31320165	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:31320165C>T	uc010dmg.1	+	10	2852	c.2797C>T	c.(2797-2799)Cgg>Tgg	p.R933W	ASXL3_uc002kxq.2_Missense_Mutation_p.R640W	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	933					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TACACAGAGTCGGTTAGAAAC	0.393000														22			24		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135432445	135432445	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:135432445C>T	uc004ezu.1	+	5	6871	c.6580C>T	c.(6580-6582)Cca>Tca	p.P2194S	GPR112_uc010nsb.1_Missense_Mutation_p.P1989S|GPR112_uc010nsc.1_Missense_Mutation_p.P1961S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2194					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGCCTCATTTCCACTCATATC	0.428000														5			68		0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841990	8841990	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:8841990C>T	uc010xkg.2	+	0	600	c.600C>T	c.(598-600)tcC>tcT	p.S200S		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S200C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGGCGCTGTCCACCTCAGGGG	0.577000											OREG0007662	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR2Z1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		63			16		0	0	1	0	0
SLC6A8	6535	broad.mit.edu	37	X	152959618	152959618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:152959618C>T	uc004fib.3	+	8	1566	c.1288C>T	c.(1288-1290)Ctc>Ttc	p.L430F	SLC6A8_uc004fic.3_Missense_Mutation_p.L420F|SLC6A8_uc011myx.1_Missense_Mutation_p.L315F|SLC6A8_uc010nuj.2_Non-coding_Transcript	NM_005629	NP_001136278	P48029	SC6A8_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8), transcript variant 1, mRNA.	430					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CACCGGCCTCCTCGACCTCCT	0.622000														2			53		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140741318	140741318	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140741318C>T	uc003ljs.2	+	0	1616	c.1616C>T	c.(1615-1617)tCg>tTg	p.S539L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.S539L|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	541	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCAGGGCTCGCCCGCGCTC	0.697000														18			37		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18301668	18301668	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:18301668G>A	uc002zng.4	-	25	4112	c.3759C>T	c.(3757-3759)ccC>ccT	p.P1253P	MICAL3_uc011agl.2_Silent_p.P1169P	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1253	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGCTGGGTGGGGGCGTGGAGG	0.692000														72			19		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142564675	142564675	+	Silent	SNP	C	T	T	rs151016022	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142564675C>T	uc011kst.2	+	10	2386	c.1599C>T	c.(1597-1599)tcC>tcT	p.S533S	EPHB6_uc011ksu.2_Silent_p.S533S|EPHB6_uc003wbs.3_Silent_p.S241S|EPHB6_uc003wbt.3_Intron|EPHB6_uc003wbu.3_Silent_p.S241S|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	533	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					AAGACGAATCCCACTCCTTCA	0.652000														42			22		0	0	1	0	0
CCL15	6359	broad.mit.edu	37	17	34325917	34325917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:34325917G>A	uc010wcu.2	-	1	674	c.121C>T	c.(121-123)Cca>Tca	p.P41S	CCL15_uc010wcs.2_Non-coding_Transcript|CCL15_uc010wct.2_Non-coding_Transcript	NM_032965	NP_116741	Q16663	CCL15_HUMAN	Homo sapiens chemokine (C-C motif) ligand 15 (CCL15), mRNA.	41					cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity	p.P41S(2)		large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGAACTACTGGATTTTCCAGT	0.438000														36			8		0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58489985	58489985	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58489985G>A	uc002qqw.3	-	6	2681	c.2063C>T	c.(2062-2064)tCc>tTc	p.S688F	ZNF606_uc010yhp.2_Missense_Mutation_p.S598F	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	688					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		ACAGTTAAAGGATCTTTCACA	0.403000														47			9		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37744537	37744537	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:37744537G>A	uc004aag.1	+	15	2552	c.2508G>A	c.(2506-2508)agG>agA	p.R836R	FRMPD1_uc004aah.1_Silent_p.R836R	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	836						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)		AGACCCTGAGGAAAAGAAGGT	0.552000														3			73		0	0	1	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42132776	42132776	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:42132776G>A	uc001zoo.4	+	7	870	c.830G>A	c.(829-831)aGg>aAg	p.R277K	JMJD7-PLA2G4B_uc010bcn.3_Missense_Mutation_p.R277K|JMJD7-PLA2G4B_uc001zoq.4_5'UTR|JMJD7-PLA2G4B_uc010bco.3_Missense_Mutation_p.R46K|JMJD7-PLA2G4B_uc001zor.1_5'Flank	NM_005090	NP_005081	P0C869	PA24B_HUMAN	Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA.	46	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						TGCAGCCACAGGCTCCAGACA	0.617000														48			37		0	0	1	0	0
NAIP	4671	broad.mit.edu	37	5	70307129	70307129	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:70307129C>T	uc003kar.1	-	4	1359	c.641G>A	c.(640-642)tGg>tAg	p.W214*	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Nonsense_Mutation_p.W214*|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.	214					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		ATGTTCCTTCCAAGGATCATC	0.383000														10			10		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137852460	137852460	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:137852460C>T	uc002tva.1	+	2	875	c.875C>T	c.(874-876)tCc>tTc	p.S292F	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.S182F	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTTCAAGATTCCTTCCCATTG	0.448000														78			25		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55450285	55450285	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55450285C>T	uc002qih.4	-	3	1978	c.1902G>A	c.(1900-1902)atG>atA	p.M634I	NLRP7_uc010esk.3_Missense_Mutation_p.M634I|NLRP7_uc002qig.4_Missense_Mutation_p.M634I|NLRP7_uc002qii.4_Missense_Mutation_p.M634I|NLRP7_uc010esl.3_Missense_Mutation_p.M662I	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	634							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTTCAAAATCCATGTAATTCT	0.473000														41			43		0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35128791	35128791	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:35128791C>T	uc002xff.3	+	9	2715	c.2280C>T	c.(2278-2280)tcC>tcT	p.S760S	DLGAP4_uc010zvp.2_Silent_p.S760S|DLGAP4_uc002xfg.3_Silent_p.S56S|DLGAP4_uc002xfh.3_Silent_p.S224S|DLGAP4_uc002xfi.3_Silent_p.S69S|DLGAP4_uc002xfj.3_Silent_p.S56S	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	763					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCAACCTCTCCTATGGAGACA	0.667000														29			24		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64473769	64473769	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:64473769C>T	uc001xgl.3	+	30	4636	c.4406C>T	c.(4405-4407)tCa>tTa	p.S1469L	SYNE2_uc001xgm.3_Missense_Mutation_p.S1469L|SYNE2_uc021ruh.1_Missense_Mutation_p.S1469L	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	1469					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGGAAAAAATCATTAATCAGA	0.343000														80			19		0	0	1	0	0
SNCG	6623	broad.mit.edu	37	10	88722411	88722411	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:88722411G>A	uc001keb.2	+	3	509	c.342G>A	c.(340-342)gaG>gaA	p.E114E		NM_003087	NP_003078	O76070	SYUG_HUMAN	Homo sapiens synuclein, gamma (breast cancer-specific protein 1) (SNCG), mRNA.	114						microtubule organizing center|perinuclear region of cytoplasm|spindle	protein binding			endometrium(1)|skin(1)	2						CATCCAAAGAGAAAGAGGAAG	0.607000														17			5		0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917409	48917409	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:48917409G>A	uc002isv.4	+	1	1454	c.760G>A	c.(760-762)Gtc>Atc	p.V254I	WFIKKN2_uc010dbu.3_Missense_Mutation_p.V161I	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	254	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GGAGAATGTGGTCATGCGGCC	0.597000														50			19		0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32275641	32275641	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:32275641C>T	uc011alu.2	+	37	4138	c.3936C>T	c.(3934-3936)ctC>ctT	p.L1312L	DEPDC5_uc011als.2_Silent_p.L1212L|DEPDC5_uc003als.3_Silent_p.L1281L|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Silent_p.L1303L|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Silent_p.L730L|DEPDC5_uc003alw.3_Silent_p.L579L|DEPDC5_uc011alx.2_Silent_p.L129L|DEPDC5_uc010gwk.3_Silent_p.L307L|DEPDC5_uc011aly.2_Silent_p.L129L	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	1281					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTGCCTTTCTCCTGCCCTGGC	0.582000														42			17		0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74944723	74944723	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:74944723C>T	uc002jti.3	+	16	2311	c.2208_splice	c.e16-1	p.K736_splice	MGAT5B_uc002jth.3_Splice_Site_p.K725_splice|MGAT5B_uc002jtj.3_Splice_Site_p.K132_splice	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	727						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCTGCCAGGCTGCAGGTGCC	0.667000														21			7		0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150720253	150720253	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:150720253G>A	uc011kvc.2	-	3	776	c.700C>T	c.(700-702)Cga>Tga	p.R234*	ATG9B_uc003wig.4_Non-coding_Transcript	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	234					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		p.R234*(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCACGCATCGAAGGAGGAAG	0.537000														148			59		0	0	1	0	0
DKFZp686O16217	0	broad.mit.edu	37	14	106054209	106054209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106054209G>A	uc001yrt.3	-	2	359	c.328C>T	c.(328-330)Ccc>Tcc	p.P110S	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript					SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment;																		GGAGGTGGGGGAACTGGAGTG	0.682000														11			8		0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45015214	45015214	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45015214C>T	uc010ejn.1	-	12	1628	c.1612_splice	c.e12-1	p.T538_splice	CEACAM20_uc010ejo.1_Splice_Site_p.T526_splice|CEACAM20_uc010ejp.1_Splice_Site_p.T445_splice|CEACAM20_uc010ejq.1_Splice_Site_p.T433_splice	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	538						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GCAGCTTCGTCTGCAAGTAAG	0.532000														232			81		0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67688816	67688816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:67688816C>T	uc001stn.2	+	3	808	c.371C>T	c.(370-372)tCt>tTt	p.S124F		NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	124					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CATGCAGGCTCTGCATTAGCT	0.363000														32			21		0	0	1	0	0
MBL2	4153	broad.mit.edu	37	10	54530530	54530530	+	Silent	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:54530530G>T	uc001jjt.3	-	1	269	c.204C>A	c.(202-204)ggC>ggA	p.G68G		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	68	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GGCCCTGTAAGCCTCTGAGCC	0.522000														96			38		1.62957e-23	1.64991e-23	1	1	0
FSHR	2492	broad.mit.edu	37	2	49381436	49381436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:49381436G>A	uc002rww.3	-	0	231	c.121C>T	c.(121-123)Cct>Tct	p.P41S	FSHR_uc010fbn.3_Missense_Mutation_p.P41S|FSHR_uc002rwx.3_Missense_Mutation_p.P41S|FSHR_uc010fbo.2_Non-coding_Transcript	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	41	LRRNT.				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AGGTCAGAAGGAATCTCTGTC	0.478000									Gonadal Dysgenesis, 46 XX					13			38		0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20666202	20666202	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20666202C>T	uc010tlb.2	+	0	708	c.708C>T	c.(706-708)gtC>gtT	p.V236V		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TAGAGCTTGTCTTTTCTGTCT	0.468000														95			65		0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887330	12887330	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:12887330C>T	uc001auk.2	-	2	723	c.527G>A	c.(526-528)tGg>tAg	p.W176*		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	176										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGGCAGTATCCACTTGCAATT	0.478000														225			106		0	0	1	0	0
TSSK3	81629	broad.mit.edu	37	1	32828411	32828411	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:32828411G>A	uc001bvf.3	+	0	550	c.109G>A	c.(109-111)Gca>Aca	p.A37T	LOC100128071_uc021oku.1_5'Flank	NM_052841	NP_443073	Q96PN8	TSSK3_HUMAN	Homo sapiens testis-specific serine kinase 3 (TSSK3), mRNA.	37	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				AAGAAAAGTGGCAATTAAAGT	0.522000														68			45		0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112339	248112339	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248112339C>T	uc001idt.1	+	0	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCATGTATTTCCTACTGAGTC	0.413000														367			61		0	0	1	0	0
NPIPL2	440348	broad.mit.edu	37	16	74425463	74425463	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:74425463C>T	uc010vmt.1	+	5	635	c.634C>T	c.(634-636)Ccc>Tcc	p.P212S				C9J9U8	C9J9U8_HUMAN	RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;	273								p.H211R(2)		endometrium(5)|kidney(3)|lung(1)|prostate(8)	17						TCTCCTTCATCCCCTTCCACC	0.498000														55			24		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76751661	76751661	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:76751661C>T	uc003pik.1	-	1	380	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	84					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTCATGGATTCCTGTGGACAG	0.383000														24			14		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79028721	79028721	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:79028721C>T	uc003kgc.3	+	1	4205	c.4133C>T	c.(4132-4134)tCt>tTt	p.S1378F		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1378						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACAGATTCATCTCTTATCACT	0.393000														12			5		0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40251394	40251394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:40251394C>T	uc003cka.3	+	10	1850	c.1715C>T	c.(1714-1716)cCc>cTc	p.P572L	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.P572L|MYRIP_uc010hhw.3_Missense_Mutation_p.P483L|MYRIP_uc011ayz.2_Missense_Mutation_p.P385L|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	572	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding	p.P572S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GCTCGGGATCCCCAGACTCTC	0.483000														27			61		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33954667	33954667	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:33954667G>A	uc001zhi.3	+	34	5006	c.4936G>A	c.(4936-4938)Gag>Aag	p.E1646K	RYR3_uc010bar.3_Missense_Mutation_p.E1646K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1646	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTTCCCGGACGAGTCCAAGAG	0.567000														46			8		0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42795507	42795507	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:42795507C>T	uc002otf.1	+	9	2627	c.2587C>T	c.(2587-2589)Cgt>Tgt	p.R863C		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	863	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CACCAGCATCCGTTTCACCCT	0.692000			"""Mis, F, S"""		oligodendroglioma									12			27		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121725944	121725944	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:121725944G>A	uc003ees.3	-	1	326	c.123C>T	c.(121-123)atC>atT	p.I41I	ILDR1_uc003eeq.3_Silent_p.I53I|ILDR1_uc003eer.3_Silent_p.I41I|ILDR1_uc010hrg.3_Silent_p.I41I	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	41	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		ATTTGAGGATGATAGAGGCAA	0.522000														51			16		0	0	1	0	0
LOC100507246	100507246	broad.mit.edu	37	17	74554899	74554899	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:74554899C>T	uc010dgx.1	+	0		c.26C>T			LOC100507246_uc002jsa.2_Intron|LOC100507246_uc021udi.1_Intron|LOC100507246_uc002jsb.2_Intron|LOC100507246_uc021udj.1_Intron|LOC100507246_uc002jsd.2_Non-coding_Transcript|SNORD1B_uc010dgy.1_5'Flank|SNORD1A_uc002jse.2_5'Flank					Homo sapiens small nucleolar RNA, C/D box 1C (SNORD1C), small nucleolar RNA.																		TTAAAGTTATCCCTGTCTGAA	0.403000														40			37		0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184622904	184622904	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:184622904C>T	uc003ivx.3	+	25	3108	c.2906C>T	c.(2905-2907)tCt>tTt	p.S969F	TRAPPC11_uc003ivw.3_Missense_Mutation_p.S969F|TRAPPC11_uc010isc.3_Missense_Mutation_p.S313F|TRAPPC11_uc003ivy.3_Missense_Mutation_p.S575F	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	Homo sapiens trafficking protein particle complex 11 (TRAPPC11), transcript variant 1, mRNA.	969																	CAATGCCCATCTCTTGGAAAT	0.373000														27			29		0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11038592	11038592	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:11038592G>A	uc021tcy.1	+	0	248	c.18G>A	c.(16-18)cgG>cgA	p.R6R	CLEC16A_uc002dan.4_Silent_p.R6R|CLEC16A_uc002dao.3_Silent_p.R6R|DEXI_uc002dal.3_5'Flank|DEXI_uc021tcx.1_5'Flank	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	6										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCCGCTCGCGGAGCTGGGTGG	0.701000														9			9		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181767826	181767826	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:181767826C>T	uc009wxt.3	+	47	6993	c.6798C>T	c.(6796-6798)atC>atT	p.I2266I	CACNA1E_uc001gow.3_Silent_p.I2223I|CACNA1E_uc009wxs.3_Silent_p.I2204I	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2266					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCAACACCATCGGCTCAGCCC	0.672000														13			14		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12666805	12666805	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:12666805G>A	uc002gno.2	+	13	3104	c.2805G>A	c.(2803-2805)tgG>tgA	p.W935*	MYOCD_uc002gnn.2_Nonsense_Mutation_p.W887*|MYOCD_uc002gnq.2_Nonsense_Mutation_p.W611*	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	887					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AATCTCCCTGGGAAACCATGG	0.547000														45			12		0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150484099	150484099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:150484099C>T	uc001euv.3	+	6	1155	c.956C>T	c.(955-957)tCc>tTc	p.S319F	ECM1_uc010pcf.2_3'UTR|ECM1_uc010pce.2_3'UTR|ECM1_uc001eus.3_Missense_Mutation_p.S292F|ECM1_uc001eut.3_Intron|ECM1_uc009wlu.3_Missense_Mutation_p.S52F	NM_001202858	NP_001189787	Q16610	ECM1_HUMAN	Homo sapiens extracellular matrix protein 1 (ECM1), transcript variant 3, mRNA.	292	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCTGATATTTCCTCGGGTCTT	0.622000														43			45		0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55614901	55614901	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:55614901C>T	uc010spf.2	+	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TTATTTTTTTCCTGGCCATTT	0.378000														101			78		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141750635	141750635	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141750635C>T	uc003vwy.3	+	23	2830	c.2776C>T	c.(2776-2778)Cct>Tct	p.P926S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	926					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCAGACTTCTCCTACAGTCAC	0.398000														64			30		0	0	1	0	0
REXO1L1	254958	broad.mit.edu	37	8	86567377	86567377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:86567377C>T	uc003ydl.1	-	0	529	c.442G>A	c.(442-444)Gac>Aac	p.D148N		NM_172239	NP_758439	Q8IX06	GOR_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA.	505						cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						ATCTCACAGTCCAAGGCGTAG	0.602000														98			8		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10387101	10387101	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:10387101C>T	uc003bvt.3	-	17	3109	c.2670G>A	c.(2668-2670)gtG>gtA	p.V890V	ATP2B2_uc003bvv.3_Silent_p.V845V|ATP2B2_uc003bvw.3_Silent_p.V845V|ATP2B2_uc010hdo.3_Silent_p.V595V	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	890					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						AGGCCACAATCACGGCCACCA	0.617000														23			25		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71029486	71029486	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:71029486C>T	uc001swc.4	-	1	461	c.416G>A	c.(415-417)gGa>gAa	p.G139E	PTPRB_uc001swa.4_Missense_Mutation_p.G139E|PTPRB_uc001swd.4_Missense_Mutation_p.G138E|PTPRB_uc009zrr.2_Intron|PTPRB_uc001swe.3_Missense_Mutation_p.G139E	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA.	0	Fibronectin type-III 2.				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)			GACCAGTTTTCCCTCCTTGTT	0.413000														38			24		0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750298	142750298	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142750298C>T	uc011ksv.2	+	0	861	c.861C>T	c.(859-861)atC>atT	p.I287I		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					ATCCCTTTATCCTTACCTTCT	0.522000														26			20		0	0	1	0	0
CHRNE	1145	broad.mit.edu	37	17	4804298	4804298	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:4804298G>A	uc002fzk.1	-	6	800	c.789C>T	c.(787-789)ttC>ttT	p.F263F	C17orf107_uc002fzl.3_3'UTR	NM_000080	NP_000071	Q04844	ACHE_HUMAN	Homo sapiens cholinergic receptor, nicotinic, epsilon (CHRNE), mRNA.	263					muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.F263F(2)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						GCGCCGGCAGGAAGTAGGCGA	0.657000														59			22		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144815953	144815953	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:144815953A>G	uc009wig.1	+	10	1512	c.1318A>G	c.(1318-1320)Aat>Gat	p.N440D	NBPF10_uc010oxo.1_Missense_Mutation_p.N442D|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Missense_Mutation_p.N171D|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.N102D	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	442								p.N184D(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CAACGATGACAATGAAGATGT	0.423000														174			47		0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62762117	62762117	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:62762117G>A	uc009yon.3	-	7	1234	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc009yom.3_Silent_p.F248F|SLC22A8_uc001nwo.3_Silent_p.F371F|SLC22A8_uc010rmm.2_Silent_p.F280F|SLC22A8_uc001nwp.2_Silent_p.F371F	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	371					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GGATGGTGATGAACTTGGCTG	0.547000														35			4		0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77474085	77474085	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:77474085G>A	uc021sqy.1	-	4	760	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	PEAK1_uc002bcn.2_Missense_Mutation_p.R62W|PEAK1_uc021sqz.1_5'Flank	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	62					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										ACAGGAGGCCGGAAATTGCCC	0.502000														81			81		0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75263823	75263823	+	Silent	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:75263823T>G	uc002fdv.3	-	6	2345	c.2199A>C	c.(2197-2199)acA>acC	p.T733T	BCAR1_uc002fdt.3_Silent_p.T186T|BCAR1_uc002fdu.3_Silent_p.T523T|BCAR1_uc010vna.2_Silent_p.T731T|BCAR1_uc010cgu.3_Silent_p.T751T|BCAR1_uc010vnb.2_Silent_p.T779T|BCAR1_uc002fdw.3_Silent_p.T733T|BCAR1_uc010vnc.2_Silent_p.T585T|BCAR1_uc010vnd.2_Silent_p.T751T|BCAR1_uc002fdx.3_Silent_p.T751T	NM_014567	NP_055382	P56945	BCAR1_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA.	733					B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth	cytosol|focal adhesion|membrane fraction|ruffle	SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCAGGCCGCCTGTTCGCCCCG	0.642000														2			45		0	0	1	0	0
TMEM119	338773	broad.mit.edu	37	12	108985661	108985661	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:108985661C>T	uc001tng.3	-	1	662	c.499G>A	c.(499-501)Gat>Aat	p.D167N	TMEM119_uc021rdl.1_Missense_Mutation_p.D167N	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	167						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CGGGAGGAATCCAGGGCTTCC	0.692000														60			12		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34851465	34851465	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:34851465C>T	uc003teh.1	+	3	596	c.468C>T	c.(466-468)ttC>ttT	p.F156F	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.F156F|NPSR1_uc010kwt.1_Silent_p.F3F|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Silent_p.F156F|NPSR1_uc010kww.1_Silent_p.F145F|NPSR1_uc011kar.1_Intron|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	156						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CCATGAAGTTCCTTCAAGGAG	0.443000														139			53		0	0	1	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499593	59499593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:59499593G>A	uc002agb.3	+	0	552	c.454G>A	c.(454-456)Gga>Aga	p.G152R	MYO1E_uc002aga.3_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	Homo sapiens lactate dehydrogenase A-like 6B (LDHAL6B), mRNA.	152					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	CCAAGAAAAGGGAGAAACGCG	0.423000														107			37		0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127186075	127186075	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:127186075G>A	uc004eum.3	-	0	308	c.111C>T	c.(109-111)tcC>tcT	p.S37S		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	37						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GTCCCAAGACGGAGCTGATGA	0.468000														22			12		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94879554	94879554	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:94879554G>A	uc003unp.3	+	8	2599	c.2317G>A	c.(2317-2319)Gat>Aat	p.D773N	PPP1R9A_uc010lfj.3_Missense_Mutation_p.D795N|PPP1R9A_uc011kif.2_Missense_Mutation_p.D773N|PPP1R9A_uc003unq.3_Missense_Mutation_p.D773N|PPP1R9A_uc011kig.2_Missense_Mutation_p.D773N	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	773	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GTTGATCAAGGATTTTCAACA	0.348000										HNSCC(28;0.073)				22			27		0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31483546	31483546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:31483546G>A	uc002rnu.3	+	3	1281	c.673G>A	c.(673-675)Gag>Aag	p.E225K	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	225					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TGACCAGATCGAGACGCAGCA	0.552000														64			27		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7059797	7059797	+	Splice_Site	SNP	A	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:7059797A>C	uc001mfb.1	+	2	303	c.-20_splice	c.e2-1			NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.						cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CCCCCCACAGAGGCCTGAATA	0.338000														44			45		0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113860197	113860197	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:113860197C>T	uc010rxb.2	+	7	1496	c.1263C>T	c.(1261-1263)aaC>aaT	p.N421N	HTR3A_uc010rxa.2_Silent_p.N389N|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.N368N	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	383	HA-stretch.				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.N415K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CCATGGGAAACCACTGCAGCC	0.592000														44			24		0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3979426	3979426	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:3979426G>A	uc002lze.3	-	10	1697	c.1614C>T	c.(1612-1614)atC>atT	p.I538I		NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	538						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGACTCCTCGATGATGCACT	0.642000														45			35		0	0	1	0	0
RPS2	6187	broad.mit.edu	37	16	2012119	2012119	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:2012119G>A	uc002cnn.2	-	5	1050	c.862C>T	c.(862-864)Cca>Tca	p.P288S	TCRBV20S1_uc021tak.1_Intron|RPS2_uc002cnm.2_Non-coding_Transcript|RPS2_uc002cno.2_Missense_Mutation_p.P288S|SNHG9_uc002cnr.3_5'Flank	NM_002952	NP_002943	P15880	RS2_HUMAN	Homo sapiens ribosomal protein S2 (RPS2), mRNA.	288					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	RNA binding|fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GCCACAGCTGGAGCCTGAGTC	0.478000														8			23		0	0	1	0	0
SHF	90525	broad.mit.edu	37	15	45464451	45464451	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:45464451G>A	uc001zuy.3	-	5	1354	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	SHF_uc010uen.2_Missense_Mutation_p.P103S|SHF_uc010ueo.2_Missense_Mutation_p.P103S|SHF_uc010ues.1_Missense_Mutation_p.P150S|SHF_uc010uet.1_Missense_Mutation_p.P103S|SHF_uc010ueu.2_Missense_Mutation_p.P150S	NM_138356	NP_612365	B3KTY1	B3KTY1_HUMAN	Homo sapiens Src homology 2 domain containing F (SHF), mRNA.	287										endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		GAGAGTCGGGGAGGTAGCCGC	0.602000														46			27		0	0	1	0	0
KLF12	11278	broad.mit.edu	37	13	74387374	74387374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:74387374C>T	uc001vjf.3	-	4	943	c.721G>A	c.(721-723)Gat>Aat	p.D241N	KLF12_uc010aeq.3_Missense_Mutation_p.D241N|KLF12_uc001vjg.3_Missense_Mutation_p.D241N	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN	Homo sapiens Kruppel-like factor 12 (KLF12), mRNA.	241					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		TCATCATCATCACTGTCACTT	0.428000														43			13		0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936556	4936556	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:4936556G>A	uc001lzr.1	-	0	338	c.338C>T	c.(337-339)tCc>tTc	p.S113F		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCGAGGAAGGAGAAGCAGTG	0.493000														18			9		0	0	1	0	0
RAB27A	5873	broad.mit.edu	37	15	55497788	55497788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:55497788G>A	uc002aco.3	-	6	814	c.583C>T	c.(583-585)Cct>Tct	p.P195S	RAB27A_uc002acr.3_Missense_Mutation_p.P195S|RAB27A_uc002acp.3_Missense_Mutation_p.P195S|RAB27A_uc002acq.3_Missense_Mutation_p.P195S	NM_183234	NP_899059	P51159	RB27A_HUMAN	Homo sapiens RAB27A, member RAS oncogene family (RAB27A), transcript variant 2, mRNA.	195					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		ACTCCTTCAGGAATCCAGGAC	0.473000														145			22		0	0	1	0	0
UBQLN1	29979	broad.mit.edu	37	9	86279949	86279949	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:86279949G>A	uc004amv.3	-	8	2018	c.1444C>T	c.(1444-1446)Cca>Tca	p.P482S	UBQLN1_uc004amw.3_Missense_Mutation_p.P454S	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	Homo sapiens ubiquilin 1 (UBQLN1), transcript variant 1, mRNA.	482					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GCCTACCCTGGGATGAGGCCC	0.408000														13			11		0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	109002725	109002725	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:109002725C>T	uc002tea.1	+	5	1066	c.693C>T	c.(691-693)gtC>gtT	p.V231V	SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Silent_p.V156V	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	231					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						ATAAAATTGTCCATTACACTT	0.358000														20			8		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48138177	48138177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:48138177G>A	uc002efc.1	-	19	3122	c.2776C>T	c.(2776-2778)Cac>Tac	p.H926Y	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Intron|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	926	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTCTCTGCGTGAAACGGCAGC	0.488000														38			17		0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5245826	5245826	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:5245826G>A	uc002mbv.3	-	9	1183	c.949C>T	c.(949-951)Ctg>Ttg	p.L317L	PTPRS_uc002mbu.1_Silent_p.L304L|PTPRS_uc010xin.2_Silent_p.L304L|PTPRS_uc002mbw.3_Silent_p.L304L|PTPRS_uc002mbx.3_Silent_p.L308L|PTPRS_uc002mby.3_Silent_p.L304L	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	317	Ig-like C2-type 3.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		ATGACGCCCAGGCTGGACATG	0.622000														14			13		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229859	21229859	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:21229859G>A	uc002red.3	-	25	10009	c.9881C>T	c.(9880-9882)tCa>tTa	p.S3294L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3294			S -> P (in dbSNP:rs12720855).		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TAATGTGTATGAAGGCACACG	0.458000														645			123		0	0	1	0	0
FANCE	2178	broad.mit.edu	37	6	35425696	35425696	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:35425696T>C	uc003oko.1	+	3	1089	c.904T>C	c.(904-906)Tta>Cta	p.L302L	FANCE_uc010jvw.1_Silent_p.L302L	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Homo sapiens Fanconi anemia, complementation group E (FANCE), mRNA.	302	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						TCCCCAGGGGTTAGAGGGATT	0.562000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					100			18		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087347	9087347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9087347G>A	uc002mkp.3	-	0	4672	c.4468C>T	c.(4468-4470)Cca>Tca	p.P1490S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1490	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACATAGGTGGAAAAATAGCA	0.423000														113			65		0	0	1	0	0
LCE3E	353145	broad.mit.edu	37	1	152538541	152538541	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152538541G>A	uc021oyz.1	-	0	144	c.144C>T	c.(142-144)tcC>tcT	p.S48S	LCE3E_uc001faa.3_Silent_p.S48S	NM_178435	NP_848522	Q5T5B0	LCE3E_HUMAN	Homo sapiens late cornified envelope 3E (LCE3E), mRNA.	48					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		AGCCGCCCTCGGAGCTAGGGC	0.662000														79			19		0	0	1	0	0
KLRK1	22914	broad.mit.edu	37	12	10531209	10531209	+	Missense_Mutation	SNP	C	T	T	rs147568901		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:10531209C>T	uc009zhj.3	-	5	550	c.373G>A	c.(373-375)Gct>Act	p.A125T	AK096314_uc001qya.1_Intron|KLRK1_uc001qyb.3_Non-coding_Transcript|KLRK1_uc001qyc.3_Missense_Mutation_p.A125T|KLRK1_uc009zhk.3_Missense_Mutation_p.A125T|KLRK1_uc001qyd.3_Missense_Mutation_p.A125T	NM_007360	NP_001186734	P26718	NKG2D_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily K, member 1 (KLRK1), mRNA.	125	C-type lectin.				T cell costimulation|natural killer cell activation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						ATACAAGAAGCCTGGCTCTCA	0.368000														22			26		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179397749	179397749	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179397749C>T	uc021vsy.1	-	306	96114	c.95889G>A	c.(95887-95889)aaG>aaA	p.K31963K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.K25658K|TTN_uc021vta.1_Silent_p.K25591K|TTN_uc021vtb.1_Silent_p.K25466K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32890	Ig-like 142.						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)			TTCTCTCCTCCTTCTTTTCTT	0.458000														144			48		0	0	1	0	0
USO1	8615	broad.mit.edu	37	4	76730164	76730164	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:76730164A>T	uc003hiu.3	+	19	2457	c.2282A>T	c.(2281-2283)cAg>cTg	p.Q761L	USO1_uc003hiv.3_Missense_Mutation_p.Q654L|USO1_uc003hiw.3_Missense_Mutation_p.Q647L	NM_003715	NP_003706	O60763	USO1_HUMAN	Homo sapiens USO1 vesicle docking protein homolog (yeast) (USO1), mRNA.	812					intracellular protein transport|vesicle fusion with Golgi apparatus	Golgi membrane|cytosol	protein binding|protein transporter activity	p.G761V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACCAAACTACAGACAGAAAAG	0.333000														9			10		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167653194	167653194	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:167653194A>G	uc010jjd.3	+	23	5183	c.5183A>G	c.(5182-5184)aAc>aGc	p.N1728S	ODZ2_uc003lzr.4_Missense_Mutation_p.N1498S|ODZ2_uc003lzt.4_Missense_Mutation_p.N1101S|ODZ2_uc010jje.3_Missense_Mutation_p.N992S	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GACATTGAGAACTCCAACCGT	0.537000														7			14		0	0	1	0	0
TXNDC9	10190	broad.mit.edu	37	2	99936182	99936182	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:99936182C>T	uc002szz.3	-	4	835	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	MRPL30_uc002szl.1_Intron|TXNDC9_uc010yvp.1_Intron	NM_005783	NP_005774	O14530	TXND9_HUMAN	Homo sapiens thioredoxin domain containing 9 (TXNDC9), mRNA.	215					cell redox homeostasis		protein binding			lung(1)	1						TTTCTTTCCTCGGATAGTTTT	0.289000														38			11		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103230146	103230146	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:103230146C>T	uc022ajr.1	-	27	4202	c.4042G>A	c.(4042-4044)Gaa>Aaa	p.E1348K	RELN_uc022ajq.1_Missense_Mutation_p.E1348K|RELN_uc010liz.3_Missense_Mutation_p.E1348K	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1348					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	p.C1347C(1)		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)		GAGTTTCCTTCGCATCCTTTG	0.473000														97			24		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9074426	9074426	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:9074426G>A	uc003brf.1	-	11	2123	c.1447C>T	c.(1447-1449)Ctt>Ttt	p.L483F	SRGAP3_uc003brg.1_Intron|SRGAP3_uc003bri.1_Non-coding_Transcript	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	483	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TTAGGGGGAAGACAGGGGGGC	0.443000			T	RAF1	pilocytic astrocytoma									20			42		0	0	1	0	0
STC2	8614	broad.mit.edu	37	5	172745119	172745119	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:172745119C>T	uc003mco.1	-	3	1950	c.640G>A	c.(640-642)Gcc>Acc	p.A214T	STC2_uc003mcn.1_Missense_Mutation_p.A129T	NM_003714	NP_003705	O76061	STC2_HUMAN	Homo sapiens stanniocalcin 2 (STC2), mRNA.	214					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTCTGGATGGCCGAGGTGCAG	0.652000														22			40		0	0	1	0	0
SLC41A1	254428	broad.mit.edu	37	1	205768148	205768148	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:205768148G>A	uc001hdh.1	-	4	1506	c.634C>T	c.(634-636)Ccg>Tcg	p.P212S	AX748016_uc001hdi.1_5'Flank	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	Homo sapiens solute carrier family 41, member 1 (SLC41A1), mRNA.	212						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AAGGCGTGCGGAATACTGAAG	0.607000														48			9		0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127765408	127765408	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:127765408G>A	uc011ebs.2	-	5	2267	c.1931C>T	c.(1930-1932)gCc>gTc	p.A644V	KIAA0408_uc003qbc.3_Missense_Mutation_p.A644V|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_Missense_Mutation_p.A55V|KIAA0408_uc003qbb.3_Missense_Mutation_p.A527V	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	644							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCCATGTGAGGCGTTCACTGA	0.488000														26			20		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177247848	177247848	+	Missense_Mutation	SNP	C	T	T	rs138472115		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:177247848C>T	uc001glf.3	+	6	1474	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	FAM5B_uc010pna.1_Missense_Mutation_p.R138W|FAM5B_uc001glg.3_Missense_Mutation_p.R283W	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	388						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						AAAGACCCATCGGATCCTACG	0.612000														61			68		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133254194	133254194	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:133254194G>A	uc001uks.1	-	6	734	c.690C>T	c.(688-690)atC>atT	p.I230I	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.I203I	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	230					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGGAGAGGCGGATGTGGTAGG	0.517000								DNA polymerases (catalytic subunits)						19			25		0	0	1	0	0
FAM9A	171482	broad.mit.edu	37	X	8766516	8766516	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:8766516C>T	uc022bsk.1	-	3	361	c.225G>A	c.(223-225)aaG>aaA	p.K75K	FAM9A_uc004csg.3_Silent_p.K75K	NM_001171186	NP_777611	Q8IZU1	FAM9A_HUMAN	Homo sapiens family with sequence similarity 9, member A (FAM9A), transcript variant 1, mRNA.	75						nucleolus		p.K75N(2)		endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				GGACTGGATCCTTTCCTGCAT	0.383000														4			56		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30701143	30701143	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:30701143C>T	uc003xil.3	-	0	5391	c.5391G>A	c.(5389-5391)atG>atA	p.M1797I		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1797										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AACAATGCTCCATTATGGCTT	0.323000														25			21		0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245655	59245655	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:59245655C>T	uc001nnz.1	+	0	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F249L(1)|p.P251T(1)|p.V250V(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCTGCATTTCGTGCCCTGCA	0.547000														128			47		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15308372	15308372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:15308372C>T	uc002nan.3	-	1	212	c.136G>A	c.(136-138)Gga>Aga	p.G46R	NOTCH3_uc002nao.1_Missense_Mutation_p.G46R	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	46	EGF-like 1.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CACGGGCTTCCGTCCAGGCAA	0.672000														29			8		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147381033	147381033	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:147381033A>T	uc021ovm.1	+	0	951	c.951A>T	c.(949-951)caA>caT	p.Q317H	GJA8_uc001epu.2_Missense_Mutation_p.Q317H	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	317					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	p.Q317E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGGGCTACCAAGAGACACTGC	0.627000														18			15		0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117559820	117559820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:117559820G>A	uc010oxb.1	+	4	1395	c.1337G>A	c.(1336-1338)aGc>aAc	p.S446N	CD101_uc009whd.3_Missense_Mutation_p.S446N|CD101_uc010oxc.1_Missense_Mutation_p.S446N|CD101_uc010oxd.1_Missense_Mutation_p.S384N	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	446	Ig-like C2-type 4.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGTCTGTGAGCTGGTGGCAC	0.577000														30			52		0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91681763	91681763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:91681763G>A	uc001xyw.2	+	12	1931	c.1579G>A	c.(1579-1581)Gga>Aga	p.G527R	C14orf159_uc001xyz.2_Missense_Mutation_p.G398R|C14orf159_uc001xzb.2_Missense_Mutation_p.G522R|C14orf159_uc001xyx.2_Missense_Mutation_p.G470R|C14orf159_uc001xzc.2_Missense_Mutation_p.G522R|C14orf159_uc001xza.2_Missense_Mutation_p.G527R|C14orf159_uc001xyv.2_Missense_Mutation_p.G487R|C14orf159_uc001xze.2_Missense_Mutation_p.G522R	NM_001102368	NP_001095838	Q7Z3D6	CN159_HUMAN	Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA.	522						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TTCTAACTGGGGAGGCTATGC	0.522000														57			43		0	0	1	0	0
PRSS37	136242	broad.mit.edu	37	7	141537046	141537046	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141537046G>A	uc003vws.2	-	3	805	c.433C>T	c.(433-435)Cga>Tga	p.R145*	PRSS37_uc011krl.2_Nonsense_Mutation_p.R144*|PRSS37_uc011krk.2_Nonsense_Mutation_p.R132*|PRSS37_uc003vwt.2_Nonsense_Mutation_p.R132*	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA.	145	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						TCAGGGTGTCGGCCTGAGGGA	0.468000														38			34		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45267196	45267196	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:45267196C>T	uc003jok.3	-	6	1803	c.1778G>A	c.(1777-1779)cGa>cAa	p.R593Q		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	593						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R593Q(2)|p.D592G(1)|p.R593*(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGTACCTATTCGATCTAGTCG	0.413000														47			8		0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17538995	17538995	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:17538995C>G	uc001mnf.3	-	14	1346	c.1237G>C	c.(1237-1239)Gag>Cag	p.E413Q	USH1C_uc001mne.3_Intron|USH1C_uc009yhb.3_Missense_Mutation_p.E394Q|USH1C_uc001mng.3_Intron|USH1C_uc001mnd.3_Missense_Mutation_p.E377Q	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	413					G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TCTGCGGGCTCGAGCTCAGGT	0.617000														6			3		0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69967820	69967820	+	Silent	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:69967820A>G	uc001suy.3	+	9	1122	c.612A>G	c.(610-612)gaA>gaG	p.E204E	FRS2_uc001suz.3_Silent_p.E204E|FRS2_uc009zrj.3_Silent_p.E204E|FRS2_uc009zrk.3_Silent_p.E204E	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 2 (FRS2), transcript variant 1, mRNA.	204					G-protein coupled receptor protein signaling pathway|activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GTGTGCAAGAAGAGCGGAAAA	0.393000														43			27		0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43339046	43339046	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:43339046C>T	uc002yzw.3	-	3	758	c.516G>A	c.(514-516)aaG>aaA	p.K172K	C2CD2_uc002yzu.3_Silent_p.K4K|C2CD2_uc002yzv.3_Silent_p.K17K|C2CD2_uc002yzx.1_Silent_p.K17K	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	172						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GGTCCTCTCTCTTCTCCTTCA	0.473000														51			19		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98060710	98060710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:98060710G>A	uc001drv.3	-	8	1000	c.863C>T	c.(862-864)cCc>cTc	p.P288L		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	288					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ATCTTTATTGGGTTCTGGCAA	0.368000														17			15		0	0	1	0	0
MYL7	58498	broad.mit.edu	37	7	44179950	44179950	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:44179950G>A	uc003tkg.3	-	3	282	c.270C>T	c.(268-270)ttC>ttT	p.F90F		NM_021223	NP_067046	Q01449	MLRA_HUMAN	Homo sapiens myosin, light chain 7, regulatory (MYL7), mRNA.	90					actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity	p.F90L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						AGAGCGTGAGGAAGACGGTGA	0.637000														190			14		0	0	1	0	0
HCRT	3060	broad.mit.edu	37	17	40336477	40336478	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:40336477_40336478CC>TT	uc002hzc.1	-	1	177_178	c.90_91GG>AA	c.(88-93)ggggcg>ggAAcg	p.A31T		NM_001524	NP_001515	O43612	OREX_HUMAN	Homo sapiens hypocretin (orexin) neuropeptide precursor (HCRT), mRNA.	31					neuropeptide signaling pathway	cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle				breast(1)|central_nervous_system(1)	2		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TGTGCAGCCGCCCCGGACGACA	0.698000														12			5		0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99126654	99126654	+	Silent	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:99126654C>A	uc001knf.3	-	26	3199	c.3060G>T	c.(3058-3060)gtG>gtT	p.V1020V	RRP12_uc001kne.3_Silent_p.V35V|RRP12_uc009xvl.3_Silent_p.V137V|RRP12_uc009xvm.3_Silent_p.V738V|RRP12_uc010qou.2_Silent_p.V959V|RRP12_uc009xvn.3_Silent_p.V920V	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	1020						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)		ACAGCCTTTTCACCAGCTCAA	0.612000														112			47		1.61863e-15	1.63358e-15	1	1	0
FAM111A	63901	broad.mit.edu	37	11	58920891	58920891	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:58920891G>A	uc010rkp.2	+	4	1977	c.1750G>A	c.(1750-1752)Gat>Aat	p.D584N	FAM111A_uc010rkq.2_Missense_Mutation_p.D584N|FAM111A_uc010rkr.2_Missense_Mutation_p.D584N|FAM111A_uc001nno.3_Missense_Mutation_p.D584N|FAM111A_uc001nnp.3_Missense_Mutation_p.D584N|FAM111A_uc001nnq.3_Missense_Mutation_p.D584N	NM_001142521	NP_942144	Q96PZ2	F111A_HUMAN	Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.	584					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CATCCTCCTTGATATTAAGCA	0.393000														95			28		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802161	185802161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:185802161G>A	uc002uph.3	+	3	2632	c.2038G>A	c.(2038-2040)Gaa>Aaa	p.E680K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	680						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATGGAATACTGAATACAACAC	0.313000														44			11		0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44223413	44223413	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:44223413G>A	uc002oxh.3	+	1	850	c.703G>A	c.(703-705)Gac>Aac	p.D235N	IRGC_uc021uvh.1_Missense_Mutation_p.D235N	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	235						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CTGGGAGCACGACCTGCCCTC	0.667000														16			12		0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247328	56247328	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:56247328C>T	uc010wnp.2	+	0	312	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TCTTCTTCTTCCACTTTTTGG	0.517000														63			68		0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30888114	30888114	+	Silent	SNP	G	A	A	rs145343277	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:30888114G>A	uc003aid.2	-	8	793	c.693C>T	c.(691-693)ttC>ttT	p.F231F	SEC14L4_uc011akz.1_Silent_p.F231F|SEC14L4_uc003aie.2_Silent_p.F216F|SEC14L4_uc003aif.2_Silent_p.F177F	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	231	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CGGGGCTGATGAATTTTGTCA	0.592000														27			13		0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190511	49190511	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:49190511G>A	uc002rww.3	-	9	1559	c.1449C>T	c.(1447-1449)ctC>ctT	p.L483L	FSHR_uc010fbn.3_Silent_p.L457L|FSHR_uc002rwx.3_Silent_p.L421L	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	483					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CAGCATGGCGGAGCTGCACCT	0.522000									Gonadal Dysgenesis, 46 XX					11			31		0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55418422	55418422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55418422C>T	uc001nhs.1	+	0	43	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTTCTGGGGTCTTTCTCAGAG	0.343000														48			30		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136032	40136032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:40136032G>A	uc021qgf.1	-	0	1811	c.1811C>T	c.(1810-1812)cCc>cTc	p.P604L	LRRC4C_uc001mxc.1_Missense_Mutation_p.P600L|LRRC4C_uc001mxd.1_Missense_Mutation_p.P600L|LRRC4C_uc001mxa.1_Missense_Mutation_p.P604L|LRRC4C_uc001mxb.1_Missense_Mutation_p.P600L	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	604					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGGTTGAAGGGAGATTTGTA	0.423000														112			19		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21878090	21878090	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:21878090C>T	uc001war.2	-	9	2349	c.2284G>A	c.(2284-2286)Gag>Aag	p.E762K	CHD8_uc001was.2_Missense_Mutation_p.E483K|CHD8_uc001wav.1_5'UTR	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	762	Chromo 2.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TCTTTTAGCTCCCATGTGCTA	0.423000														43			37		0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68421820	68421820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:68421820G>A	uc003xxq.4	-	4	722	c.466C>T	c.(466-468)Cac>Tac	p.H156Y	CPA6_uc003xxr.4_Missense_Mutation_p.H8Y|CPA6_uc003xxs.2_Missense_Mutation_p.H156Y	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	156					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AGGCCTGAGTGAGTTTTATTC	0.303000														25			36		0	0	1	0	0
CLDN9	9080	broad.mit.edu	37	16	3063628	3063628	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:3063628C>T	uc010uwo.1	+	0	1172	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L		NM_020982	NP_066192	O95484	CLD9_HUMAN	Homo sapiens claudin 9 (CLDN9), mRNA.	89					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						CATTGCCCTCCTGCTGGCCCT	0.657000														51			19		0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42361005	42361005	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:42361005G>A	uc001wvm.3	+	3	3136	c.1938G>A	c.(1936-1938)aaG>aaA	p.K646K	LRFN5_uc010ana.3_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	646						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGAAAAGAAAGACTGGCACAA	0.458000										HNSCC(30;0.082)				21			9		0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47428008	47428008	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:47428008C>T	uc003gxh.3	+	8	1772	c.1398C>T	c.(1396-1398)gtC>gtT	p.V466V	GABRB1_uc011bze.2_Silent_p.V396V	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	466					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTTTTAATGTCGTCTATTGGC	0.418000														45			12		0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29816468	29816468	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:29816468G>A	uc002dts.3	+	12	1946	c.1923G>A	c.(1921-1923)acG>acA	p.T641T	BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Silent_p.T573T|KIF22_uc010vdw.1_Silent_p.T573T|KIF22_uc002frc.1_Non-coding_Transcript|MAZ_uc010vdx.2_5'Flank|MAZ_uc002dtx.3_5'Flank|MAZ_uc002dty.3_5'Flank|MAZ_uc002dtz.1_5'Flank	NM_007317	NP_015556	Q14807	KIF22_HUMAN	Homo sapiens kinesin family member 22 (KIF22), transcript variant 1, mRNA.	641					DNA repair|blood coagulation|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGGGCATAACGGGGAAACAGA	0.682000														55			22		0	0	1	0	0
SLC1A5	6510	broad.mit.edu	37	19	47280488	47280488	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:47280488G>A	uc002pfs.3	-	5	1853	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	SLC1A5_uc010xyh.2_Silent_p.F209F|SLC1A5_uc002pfq.3_Silent_p.F235F|SLC1A5_uc002pfr.3_Silent_p.F183F	NM_005628	NP_001138616	Q15758	AAAT_HUMAN	Homo sapiens solute carrier family 1 (neutral amino acid transporter), member 5 (SLC1A5), transcript variant 1, mRNA.	411					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	TGATCTTTACGAAGTCCAAGG	0.612000														28			7		0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42763247	42763247	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:42763247C>T	uc001uyl.2	+	14	1781	c.1714C>T	c.(1714-1716)Cct>Tct	p.P572S	DGKH_uc010tfh.2_Missense_Mutation_p.P572S|DGKH_uc001uym.2_Missense_Mutation_p.P572S|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Missense_Mutation_p.P327S|DGKH_uc001uyo.2_Missense_Mutation_p.P436S|DGKH_uc010tfj.2_Missense_Mutation_p.P436S|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	572					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GCCTGTTCTCCCTGGCCTCAG	0.512000														17			40		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96707551	96707551	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:96707551C>T	uc001kka.4	+	3	522	c.497C>T	c.(496-498)cCc>cTc	p.P166L	CYP2C9_uc009xut.3_Missense_Mutation_p.P166L	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	166					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CCCTGTGATCCCACTTTCATC	0.308000														66			15		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124409699	124409699	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:124409699G>A	uc001uft.4	+	66	11540	c.11515G>A	c.(11515-11517)Gat>Aat	p.D3839N	DNAH10_uc001ufu.4_5'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3839					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTTCCGTGTGGATCGGGTCTA	0.488000														29			28		0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76332480	76332480	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:76332480G>A	uc003ket.3	+	3	998	c.616G>A	c.(616-618)Gga>Aga	p.G206R	AGGF1_uc003keu.1_Non-coding_Transcript	NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.	206					RNA processing|angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ATCACAGACTGGATTTAGTTA	0.398000														323			10		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229536	140229536	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140229536G>T	uc003lhu.2	+	0	2180	c.1456G>T	c.(1456-1458)Gag>Tag	p.E486*	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Nonsense_Mutation_p.E486*	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	500	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACGCGCAGGAGAACGCCCT	0.662000														1			26		3.73988e-18	3.77942e-18	1	1	0
ZDHHC2	51201	broad.mit.edu	37	8	17063272	17063272	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:17063272C>T	uc003wxe.3	+	6	982	c.585C>T	c.(583-585)atC>atT	p.I195I		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA.	195						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		AGTATTTTATCAAATTTTGGA	0.308000														81			30		0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74283258	74283258	+	Missense_Mutation	SNP	C	T	T	rs78575701		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:74283258C>T	uc003hgs.4	+	10	1373	c.1300C>T	c.(1300-1302)Cgt>Tgt	p.R434C	ALB_uc011cbe.2_Missense_Mutation_p.R113C|ALB_uc003hgw.4_Missense_Mutation_p.R242C|ALB_uc011cbf.2_Missense_Mutation_p.R324C	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	434	Albumin 3.		R -> C (in Liprizzi).		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GCTATTAGTTCGTTACACCAA	0.403000														41			56		0	0	1	0	0
RPF2	84154	broad.mit.edu	37	6	111345392	111345392	+	Silent	SNP	G	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:111345392G>C	uc003pun.3	+	8	622	c.603G>C	c.(601-603)ctG>ctC	p.L201L	RPF2_uc003puo.3_Silent_p.L138L	NM_032194	NP_115570	Q9H7B2	RPF2_HUMAN	Homo sapiens ribosome production factor 2 homolog (S. cerevisiae) (RPF2), mRNA.	201	Brix.					nucleolus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						AAAGGTTGCTGTTGAAGAAAT	0.413000														21			6		0	0	1	0	0
ATG9A	79065	broad.mit.edu	37	2	220089208	220089208	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:220089208G>A	uc002vke.1	-	7	1071	c.885C>T	c.(883-885)atC>atT	p.I295I	ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Silent_p.I295I	NM_001077198	NP_076990	Q7Z3C6	ATG9A_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA.	295					autophagic vacuole assembly|protein transport	Golgi apparatus|autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAAGTTAGCGATGCCAATCC	0.587000														14			4		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134898711	134898711	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:134898711G>A	uc003eqt.3	+	9	2144	c.1769G>A	c.(1768-1770)gGg>gAg	p.G590E	EPHB1_uc003equ.3_Missense_Mutation_p.G151E	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	590						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.P589P(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCTCCCCAGGGATGAAGATC	0.483000														118			52		0	0	1	0	0
PAQR5	54852	broad.mit.edu	37	15	69672237	69672237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:69672237G>A	uc002arz.2	+	3	445	c.67G>A	c.(67-69)Ggc>Agc	p.G23S	PAQR5_uc002asa.2_Missense_Mutation_p.G23S	NM_017705	NP_060175	Q9NXK6	MPRG_HUMAN	Homo sapiens progestin and adipoQ receptor family member V (PAQR5), transcript variant 2, mRNA.	23					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						CCATGAGCAAGGCATCCTGTT	0.532000														135			103		0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133072583	133072583	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:133072583G>A	uc003qdt.3	-	4	912	c.901C>T	c.(901-903)Ctt>Ttt	p.L301F	VNN2_uc003qds.3_Missense_Mutation_p.L10F|VNN2_uc010kgb.3_Intron|VNN2_uc003qdv.3_Missense_Mutation_p.L248F	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	301	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	p.L300I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		ACCTCTGAAAGGAGAAGTTTT	0.433000														32			24		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68984743	68984743	+	Missense_Mutation	SNP	C	T	T	rs150518974		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:68984743C>T	uc003xxv.1	+	13	1534	c.1507C>T	c.(1507-1509)Cat>Tat	p.H503Y	PREX2_uc003xxu.1_Missense_Mutation_p.H503Y|PREX2_uc011lez.1_Missense_Mutation_p.H438Y	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	503	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TAAAGATTACCATTTAAGGAC	0.313000														24			40		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43813932	43813932	+	Silent	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:43813932C>A	uc001zrt.3	+	3	728	c.261C>A	c.(259-261)ctC>ctA	p.L87L		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	87						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)	CGGTGCTACTCACACACATTG	0.542000														61			44		9.84934e-19	9.95723e-19	1	1	0
TNFSF9	8744	broad.mit.edu	37	19	6535057	6535057	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:6535057C>T	uc002mfh.2	+	2	783	c.745C>T	c.(745-747)Cct>Tct	p.P249S		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	249					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						AGCCGGACTCCCTTCACCGAG	0.632000														16			7		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415805	86415805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:86415805G>A	uc003uid.3	+	2	1796	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	GRM3_uc010lef.3_Missense_Mutation_p.E231K|GRM3_uc010leg.3_Missense_Mutation_p.E105K|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	233					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CTTCGAGCAGGAAGCCCGCCT	0.592000														58			20		0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42223919	42223919	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:42223919C>T	uc002orl.3	+	6	1684	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	CEACAM5_uc002orj.1_Silent_p.F520F	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	521	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CTGTGGCCTTCACCTGTGAAC	0.562000														116			36		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3786113	3786113	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:3786113T>C	uc002cvv.3	-	27	4856	c.4652A>G	c.(4651-4653)gAg>gGg	p.E1551G	CREBBP_uc002cvw.3_Missense_Mutation_p.E1513G	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1551	Interaction with TRERF1.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTTAATGCTCTCTTCTAACAC	0.468000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							54			13		0	0	1	0	0
GPX6	257202	broad.mit.edu	37	6	28472261	28472261	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:28472261C>T	uc021yrx.1	-	4	524	c.474G>A	c.(472-474)ccG>ccA	p.P158P	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	158					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GATCAGAGGTCGGAGGGCAGG	0.443000														54			12		0	0	1	0	0
BC071797	0	broad.mit.edu	37	21	9769013	9769013	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:9769013C>T	uc011abu.2	+	9		c.988C>T								Homo sapiens, clone IMAGE:4720764, mRNA.																		CAAACGCTGCCCTTGAAAAGT	0.333000														41			7		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8661077	8661077	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:8661077C>T	uc002mkj.1	-	10	1491	c.1217G>A	c.(1216-1218)gGa>gAa	p.G406E	ADAMTS10_uc002mkk.1_Missense_Mutation_p.G38E	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	406	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.V405L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACAGCTGTTTCCCACGCCGTC	0.637000														41			42		0	0	1	0	0
TUBG1	7283	broad.mit.edu	37	17	40766974	40766974	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:40766974C>T	uc002ian.3	+	10	1669	c.1271C>T	c.(1270-1272)tCc>tTc	p.S424F		NM_001070	NP_001061	P23258	TBG1_HUMAN	Homo sapiens tubulin, gamma 1 (TUBG1), mRNA.	424					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		ATGGACACATCCAGGGAGATT	0.577000														133			42		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52575934	52575934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:52575934C>T	uc001jjj.3	-	8	1161	c.973G>A	c.(973-975)Gga>Aga	p.G325R	A1CF_uc010qho.2_Missense_Mutation_p.G333R|A1CF_uc010qhn.2_Missense_Mutation_p.G333R|A1CF_uc009xov.3_Missense_Mutation_p.G325R|A1CF_uc001jji.3_Missense_Mutation_p.G325R|A1CF_uc001jjh.3_Missense_Mutation_p.G333R	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	325					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GTATACTCTCCTTGCAGCATG	0.522000														40			13		0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220312371	220312371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:220312371C>T	uc001hmc.3	+	17	2301	c.2197C>T	c.(2197-2199)Ctt>Ttt	p.L733F		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	733					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	ACTTCGCTTTCTTTTGGGAAA	0.343000														69			18		0	0	1	0	0
ZBTB32	27033	broad.mit.edu	37	19	36205574	36205574	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:36205574C>T	uc002oay.3	+	1	256	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	ZBTB32_uc002oaz.3_Non-coding_Transcript	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	Homo sapiens zinc finger and BTB domain containing 32 (ZBTB32), mRNA.	16					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGCTCTGATCGGCTGGTACA	0.602000														118			82		0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77296150	77296150	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:77296150C>T	uc004ecx.4	+	18	3880	c.3720C>T	c.(3718-3720)atC>atT	p.I1240I		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	1240					ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AACTGGCTATCCATATTCTGA	0.408000														29			32		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71391522	71391522	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:71391522C>T	uc010dfm.3	-	24	3364	c.3364G>A	c.(3364-3366)Gag>Aag	p.E1122K	SDK2_uc002jjt.4_Missense_Mutation_p.E281K|SDK2_uc010dfn.2_Missense_Mutation_p.E801K	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1122	Fibronectin type-III 6.				cell adhesion	integral to membrane		p.P1121L(1)		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						TATTCCATCTCCGGGAGAGGC	0.637000														50			7		0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15537625	15537625	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:15537625G>A	uc002yjm.3	-	5	893	c.883C>T	c.(883-885)Cct>Tct	p.P295S	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.P244S|LIPI_uc021whh.1_Missense_Mutation_p.P274S|LIPI_uc021whi.1_Missense_Mutation_p.P109S|LIPI_uc021whj.1_Missense_Mutation_p.P274S|LIPI_uc021whe.1_Intron|LIPI_uc021whf.1_Missense_Mutation_p.P274S	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	274					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GAACGACAAGGAAATGAAATA	0.353000														31			7		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635751	33635751	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:33635751G>A	uc001uus.3	+	3	2543	c.2535G>A	c.(2533-2535)gtG>gtA	p.V845V	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	845	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCAGTCAGGTGGCGGTAGTGC	0.483000														44			19		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36223190	36223190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:36223190C>T	uc021usv.1	+	27	5740	c.5740C>T	c.(5740-5742)Cgt>Tgt	p.R1914C	MLL2_uc021usu.1_Missense_Mutation_p.R728C	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	526					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						CAGACGTTCCCGTCGTCCCAG	0.642000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				7			3		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	31010144	31010144	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:31010144G>A	uc021vfn.1	-	0	80	c.48C>T	c.(46-48)ttC>ttT	p.F16F	CAPN13_uc021vfm.1_Silent_p.F16F|CAPN13_uc002rnp.1_Silent_p.F16F	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	16					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CCTGGTCTTTGAACTTGATGA	0.507000														13			25		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40050714	40050714	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:40050714G>A	uc002xka.1	-	30	4739	c.4561C>T	c.(4561-4563)Cca>Tca	p.P1521S		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1521					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTGGTATCTGGGGGACCTGGA	0.517000														61			18		0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58601541	58601541	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58601541C>T	uc010yht.1	-	1	292	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	ZSCAN18_uc002qrj.3_Missense_Mutation_p.E32K|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.E32K|ZSCAN18_uc002qri.2_Missense_Mutation_p.E32K|ZSCAN18_uc002qrk.1_Missense_Mutation_p.E32K|ZSCAN18_uc002qrl.2_Missense_Mutation_p.E32K	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	32	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TCGGGTTCTTCCTGCTGGACT	0.652000														60			20		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55570420	55570420	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:55570420C>T	uc021pqw.1	-	34	4803	c.4408G>A	c.(4408-4410)Gaa>Aaa	p.E1470K	PCDH15_uc010qhq.2_Missense_Mutation_p.E1463K|PCDH15_uc010qhr.2_Missense_Mutation_p.E1458K|PCDH15_uc021pqv.1_Missense_Mutation_p.M1483I|PCDH15_uc010qht.2_Missense_Mutation_p.E1465K|PCDH15_uc021pqx.1_Missense_Mutation_p.M1481I	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					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)				TGAGGCATTTCATACCTGTAA	0.418000										HNSCC(58;0.16)				70			28		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150698983	150698983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:150698983C>T	uc003wif.3	+	12	1873	c.1577C>T	c.(1576-1578)tCc>tTc	p.S526F	NOS3_uc011kuy.2_Missense_Mutation_p.S320F|NOS3_uc011kva.2_Missense_Mutation_p.S526F|NOS3_uc011kuz.2_Missense_Mutation_p.S526F|NOS3_uc011kvb.2_Missense_Mutation_p.S526F	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	526	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CTGTATGGCTCCGAGACCGGC	0.652000														27			14		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140740892	140740892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140740892C>T	uc003ljs.2	+	0	1190	c.1190C>T	c.(1189-1191)tCc>tTc	p.S397F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc011dar.2_Missense_Mutation_p.S397F	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	400	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGAAATCTTCCTCAAAGAAC	0.473000														81			22		0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555113	44555113	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:44555113C>T	uc010xdb.2	-	0	1337	c.1101G>A	c.(1099-1101)ctG>ctA	p.L367L	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	367	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TCCACCCTTCCAGAACGGGTT	0.602000														412			33		0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113303604	113303604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:113303604C>T	uc021xcn.1	+	7	1546	c.895C>T	c.(895-897)Cct>Tct	p.P299S	SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Missense_Mutation_p.P299S|SIDT1_uc011big.2_Missense_Mutation_p.P52S	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	299						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GACCATTGTCCCTTCCATTAA	0.358000														49			13		0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780319	37780319	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:37780319G>A	uc003tfm.1	+	0	324	c.324G>A	c.(322-324)gtG>gtA	p.V108V	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	108						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTATGTGGTGATCCTGGTCA	0.483000														62			121		0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151716746	151716746	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:151716746C>T	uc003wkp.3	+	8	1462	c.1192C>T	c.(1192-1194)Cga>Tga	p.R398*	GALNTL5_uc010lqf.3_Nonsense_Mutation_p.R287*|GALNTL5_uc003wkq.3_Nonsense_Mutation_p.R149*|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	398						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GTTTTTTCTTCGAAAGCCTGG	0.378000														31			18		0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962281	165962281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:165962281G>A	uc003iqy.1	+	2	1227	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	TRIM60_uc010iqx.1_Missense_Mutation_p.E353K|TRIM60_uc021xty.1_Missense_Mutation_p.E353K	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	353	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		ACATTACTGGGAAGTAGAAGT	0.443000														83			18		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63417186	63417186	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:63417186C>T	uc001xfx.3	-	6	1085	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	KCNH5_uc001xfy.3_Missense_Mutation_p.G345E|KCNH5_uc001xfz.1_Missense_Mutation_p.G287E|KCNH5_uc001xga.3_Missense_Mutation_p.G287E	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	345					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GACTGCTGCTCCATATTCTAG	0.507000														61			16		0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7948224	7948224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:7948224C>T	uc002gju.3	+	5	870	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	ALOX15B_uc002gjv.3_Missense_Mutation_p.R252C|ALOX15B_uc002gjw.3_Missense_Mutation_p.R252C|ALOX15B_uc010vun.2_Missense_Mutation_p.R252C|ALOX15B_uc010cnp.3_Missense_Mutation_p.R58C	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	252	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TGTCCTGATCCGCCGCTGTCA	0.612000														29			22		0	0	1	0	0
STMN4	81551	broad.mit.edu	37	8	27098618	27098618	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:27098618G>A	uc011lak.2	-	4	466	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L	STMN4_uc003xfj.3_Silent_p.L118L|STMN4_uc011lai.2_Silent_p.L118L|STMN4_uc011laj.2_Silent_p.L82L|STMN4_uc003xfk.3_Silent_p.L91L|STMN4_uc010luo.3_Silent_p.L91L	NM_030795	NP_110422	Q9H169	STMN4_HUMAN	Homo sapiens stathmin-like 4 (STMN4), mRNA.	91					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		ATCTCTTCCAGGGATGGGTCT	0.562000														43			35		0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3700795	3700795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:3700795G>A	uc001lyh.3	-	30	5483	c.5062C>T	c.(5062-5064)Cat>Tat	p.H1688Y	NUP98_uc001lyi.3_Missense_Mutation_p.H1614Y|NUP98_uc001lyg.3_Missense_Mutation_p.H653Y	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	1705					DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TGCTGTATATGGCGGAGCATT	0.468000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									37			9		0	0	1	0	0
PLK2	10769	broad.mit.edu	37	5	57752864	57752864	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:57752864T>A	uc003jrn.3	-	7	1244	c.1064A>T	c.(1063-1065)cAc>cTc	p.H355L	PLK2_uc021xyx.1_Missense_Mutation_p.H341L	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.	355					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GCTTGATAAGTGGAAATCTGG	0.403000														19			23		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84526400	84526400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:84526400C>T	uc004eeq.3	+	9	2876	c.1990C>T	c.(1990-1992)Cct>Tct	p.P664S	ZNF711_uc004eep.3_Missense_Mutation_p.P618S|ZNF711_uc004eeo.3_Missense_Mutation_p.P618S|ZNF711_uc011mqy.1_Missense_Mutation_p.P217S	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	618					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TAAGGATTTTCCTCACAAATG	0.423000														6			9		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085622	9085622	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9085622G>A	uc002mkp.3	-	0	6397	c.6193C>T	c.(6193-6195)Cca>Tca	p.P2065S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2065	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTAGTACTTGGCCAAGTTGTA	0.478000														78			57		0	0	1	0	0
CLECL1	160365	broad.mit.edu	37	12	9885592	9885592	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:9885592G>T	uc001qwi.3	-	0	304	c.269C>A	c.(268-270)aCt>aAt	p.T90N	CLECL1_uc001qwj.3_Missense_Mutation_p.T90N	NM_001253750	NP_001240679	Q8IZS7	CLCL1_HUMAN	Homo sapiens C-type lectin-like 1 (CLECL1), transcript variant 3, mRNA.	90						integral to membrane|plasma membrane	sugar binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						AGTCCGAACAGTTTTGATGTC	0.428000														63			21		1.50039e-11	1.51169e-11	1	1	0
LRIG1	26018	broad.mit.edu	37	3	66431055	66431055	+	Missense_Mutation	SNP	C	T	T	rs146580942	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:66431055C>T	uc003dmx.3	-	17	3015	c.3001G>A	c.(3001-3003)Gat>Aat	p.D1001N	SLC25A26_uc011bft.2_Non-coding_Transcript|LRIG1_uc011bfu.2_Missense_Mutation_p.D621N|LRIG1_uc003dmw.3_Missense_Mutation_p.D667N|LRIG1_uc010hnz.3_Missense_Mutation_p.D717N|LRIG1_uc010hoa.3_Missense_Mutation_p.D978N	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	1001						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AGCATTCTATCGTGGTTACTG	0.537000														148			51		0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7411738	7411738	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:7411738C>T	uc002ghf.4	+	19	3795	c.3409C>T	c.(3409-3411)Cct>Tct	p.P1137S		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	1137					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GCCAAAGACTCCTTCGCTTAC	0.522000														11			4		0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132207172	132207172	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:132207172G>A	uc003eor.3	+	29	3363	c.3298G>A	c.(3298-3300)Gag>Aag	p.E1100K		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	1100							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TATCCTTGTTGAGAAGGTTGC	0.348000														37			16		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43815199	43815199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:43815199G>A	uc001zrt.3	+	3	1995	c.1528G>A	c.(1528-1530)Gga>Aga	p.G510R		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	510	9 X 3 AA repeats of K-K-[DE].					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)	AGCCCAGAAGGGAACTGTACC	0.567000														85			17		0	0	1	0	0
CD2AP	23607	broad.mit.edu	37	6	47547151	47547151	+	Missense_Mutation	SNP	G	A	A	rs147188917	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:47547151G>A	uc003oyw.3	+	8	1390	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Homo sapiens CD2-associated protein (CD2AP), mRNA.	312	SH3 3.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			GTGGAGGGGCGAACTTAATGG	0.338000														55			8		0	0	1	0	0
FGF14	2259	broad.mit.edu	37	13	102375206	102375206	+	Missense_Mutation	SNP	G	A	A	rs146611222		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:102375206G>A	uc001vpf.2	-	4	830	c.734C>T	c.(733-735)cCa>cTa	p.P245L	FGF14_uc001vpe.2_Missense_Mutation_p.P240L	NM_175929	NP_787125	Q92915	FGF14_HUMAN	Homo sapiens fibroblast growth factor 14 (FGF14), transcript variant 2, mRNA.	240					JNK cascade|cell death|cell-cell signaling|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTGTTGACTGGTTTGCCTCC	0.483000														23			9		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163292019	163292020	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:163292019_163292020CC>TT	uc002uch.2	-	7	1871_1872	c.1642_1643GG>AA	c.(1642-1644)ggc>AAc	p.G548N	KCNH7_uc002uci.3_Missense_Mutation_p.G541N	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	548					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.Y547C(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AACAGCAGCGCCATATTCTGAA	0.460000														32			14		0	0	1	0	0
CHFR	55743	broad.mit.edu	37	12	133434021	133434021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:133434021G>A	uc001ulf.2	-	8	1156	c.1072C>T	c.(1072-1074)Ctc>Ttc	p.L358F	CHFR_uc001ulc.1_Non-coding_Transcript|CHFR_uc001uld.2_Missense_Mutation_p.L317F|CHFR_uc001ule.2_Missense_Mutation_p.L346F|CHFR_uc010tbs.1_Missense_Mutation_p.L358F|CHFR_uc010tbt.1_Missense_Mutation_p.L266F	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	Homo sapiens checkpoint with forkhead and ring finger domains (CHFR), transcript variant 1, mRNA.	358					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.L317V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GCTTCCACGAGGTTGTTGAGG	0.632000														49			21		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32633764	32633764	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:32633764C>T	uc003zrg.1	-	0	1904	c.1814G>A	c.(1813-1815)gGg>gAg	p.G605E	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	605					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GATAATATTCCCTCCAAAGGT	0.493000														29			37		0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158073936	158073936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:158073936C>T	uc003ipj.2	+	8	1173	c.971C>T	c.(970-972)tCc>tTc	p.S324F	GLRB_uc021xtp.1_Intron|GLRB_uc021xtq.1_Missense_Mutation_p.S324F	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	324					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CCCAAAGTTTCCTATGTGAAG	0.483000														59			64		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65784602	65784602	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:65784602C>T	uc001ogt.3	-	10	2383	c.2245G>A	c.(2245-2247)Gtg>Atg	p.V749M		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	749					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TCCTGCTCCACGCTTGCCACC	0.657000														24			8		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35727907	35727907	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:35727907G>A	uc003jjo.3	+	20	3156	c.3045G>A	c.(3043-3045)gtG>gtA	p.V1015V	SPEF2_uc003jjp.1_Silent_p.V501V	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1015					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGGTCTATGTGAATGAACCAG	0.428000														65			14		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31302310	31302310	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:31302310G>A	uc003jhe.2	+	5	1264	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	CDH6_uc003jhd.2_Missense_Mutation_p.E302K	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	302	Cadherin 3.				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						AGAAAATGCTGAAATTGAGTA	0.448000														12			45		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130500	52130500	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52130500C>T	uc002pxe.3	-	7	1422	c.1283_splice	c.e7-1	p.G428_splice		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	428					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GGTTCGATCTCCCTGCAGAAA	0.562000														50			10		0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25926017	25926017	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:25926017C>T	uc011dkb.2	-	0	91	c.8G>A	c.(7-9)gGg>gAg	p.G3E	SLC17A2_uc011dkc.2_Missense_Mutation_p.G3E|SLC17A2_uc003nfl.3_Missense_Mutation_p.G3E			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	3					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GGCAGGCTTCCCGTCCATTTA	0.458000														237			42		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140798557	140798557	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140798557G>A	uc003lkn.2	+	0	1298	c.1131G>A	c.(1129-1131)ggG>ggA	p.G377G	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_Silent_p.G377G|PCDHGC5_uc003lko.1_5'Flank|PCDHGC5_uc003lkq.2_5'Flank|PCDHGC5_uc003lkp.2_5'Flank	NM_018927	NP_061750	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 7 (PCDHGB7), transcript variant 1, mRNA.	380	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D376H(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGACTCAGGGGAAAATGGGG	0.448000														29			12		0	0	1	0	0
GPN3	51184	broad.mit.edu	37	12	110891655	110891655	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:110891655G>A	uc021rdu.1	-	6	887	c.802C>T	c.(802-804)Cga>Tga	p.R268*	GPN3_uc001tqr.3_Nonsense_Mutation_p.R229*|GPN3_uc001tqs.3_Nonsense_Mutation_p.R239*	NM_001164372	NP_001157844	Q9UHW5	GPN3_HUMAN	Homo sapiens GPN-loop GTPase 3 (GPN3), transcript variant 2, mRNA.	229						protein complex	GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						GGTAAAAATCGAACCATGCTG	0.313000														30			6		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801717	185801717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:185801717C>T	uc002uph.3	+	3	2188	c.1594C>T	c.(1594-1596)Ctc>Ttc	p.L532F		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	532						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGATGATATTCTCTCCAGTAG	0.343000														23			9		0	0	1	0	0
LIX1L	128077	broad.mit.edu	37	1	145492339	145492339	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:145492339C>T	uc001enr.3	+	2	635	c.561C>T	c.(559-561)atC>atT	p.I187I		NM_153713	NP_714924	Q8IVB5	LIX1L_HUMAN	Homo sapiens Lix1 homolog (mouse)-like (LIX1L), mRNA.	187										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATGAGTTCATCGAGAAGAGTG	0.493000														105			30		0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	25544	25544	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrGL000241.1:25544C>T	uc011mgv.2	-	3		c.448G>A								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		TTCCCTCATCCATTTCAATGG	0.373000														455			22		0	0	1	0	0
CTAGE6P	340307	broad.mit.edu	37	7	143453515	143453515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:143453515C>T	uc003wdk.4	-	0	1329	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	FAM115C_uc011ktn.1_Intron|FAM115C_uc011kto.2_Intron|FAM115C_uc011ktp.2_Intron|FAM115C_uc011ktq.1_Intron|FAM115C_uc011ktr.1_Intron|FAM115C_uc011kts.1_Intron|FAM115C_uc003wdj.1_Intron	NM_178561	NP_848656	Q86UF2	CTGE6_HUMAN	Homo sapiens CTAGE family, member 6, pseudogene (CTAGE6P), mRNA.	413						integral to membrane											AGCTTCTCTTCTTCCTCTATT	0.378000														168			23		0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17476724	17476724	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:17476724C>T	uc002ngk.1	-	2	590	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	184						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGCACGCTTTCCTTATCCTTA	0.542000														30			15		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248603	20248603	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20248603G>A	uc010tku.2	+	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41A(2)|p.P40T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTACCAGGAAATATCCTT	0.423000														192			108		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141598489	141598489	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:141598489C>T	uc002tvj.1	-	29	6084	c.5112G>A	c.(5110-5112)agG>agA	p.R1704R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1704					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)		TACTTTACCCCCTGACTGGGT	0.338000										TSP Lung(27;0.18)				29			4		0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38538480	38538480	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:38538480C>T	uc002yvz.3	+	32	4069	c.3964C>T	c.(3964-3966)Cct>Tct	p.P1322S	TTC3_uc011aee.1_Missense_Mutation_p.P1012S|TTC3_uc002ywa.3_Missense_Mutation_p.P1322S|TTC3_uc002ywb.3_Missense_Mutation_p.P1322S|TTC3_uc010gnf.3_Missense_Mutation_p.P1087S|TTC3_uc002ywc.3_Missense_Mutation_p.P1012S|TTC3_uc002ywd.1_Missense_Mutation_p.P386S	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1322					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TACGTATCTTCCTTTCCAGAG	0.478000														94			83		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126004129	126004129	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:126004129C>T	uc001uhe.1	+	3	1244	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F	TMEM132B_uc021rgl.1_Silent_p.F302F	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	412						integral to membrane		p.I411I(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCGAGATCTTCGTCAGCCAGA	0.517000														91			22		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237919623	237919623	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:237919623G>A	uc001hyl.1	+	80	11301	c.11181G>A	c.(11179-11181)caG>caA	p.Q3727Q	RYR2_uc010pya.2_Silent_p.Q142Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3727					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCTATACCAGCAAGCCCGAC	0.468000														27			52		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125900150	125900150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:125900150G>A	uc001uhe.1	+	2	1026	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	TMEM132B_uc021rgl.1_Missense_Mutation_p.E230K	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	340						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGTCCAGGAGGAAATTGATAA	0.552000														39			31		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21796656	21796656	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:21796656G>A	uc001wag.3	+	17	2969	c.2969G>A	c.(2968-2970)gGa>gAa	p.G990E	RPGRIP1_uc001wah.3_Missense_Mutation_p.G632E|RPGRIP1_uc001wai.3_Missense_Mutation_p.G316E|RPGRIP1_uc001wak.3_Missense_Mutation_p.G465E|RPGRIP1_uc010aim.3_Missense_Mutation_p.G373E|RPGRIP1_uc001wal.3_Missense_Mutation_p.G349E|RPGRIP1_uc001wam.3_Missense_Mutation_p.G307E	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	990	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CCTCATGGGGGAGAAAGAAAG	0.433000														43			30		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587274	179587274	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179587274C>T	uc021vsy.1	-	74	18734	c.18509_splice	c.e74-1	p.E6170_splice	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Splice_Site_p.E2831_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7097	Ig-like 43.						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)			AGTTGGCGCTCTGTAGGGAGA	0.373000														60			34		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34150116	34150116	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:34150116G>A	uc001zhi.3	+	99	14212	c.14142_splice	c.e99+1	p.T4714_splice	RYR3_uc010bar.3_Splice_Site_p.T4709_splice	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4714					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATGATGACGGTGAGAGCCCA	0.582000														23			7		0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47304376	47304376	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:47304376C>T	uc001ner.1	+	9	1909	c.1718C>T	c.(1717-1719)cCa>cTa	p.P573L	MADD_uc001neq.2_Missense_Mutation_p.P573L|MADD_uc001nev.1_Missense_Mutation_p.P573L|MADD_uc001nes.1_Missense_Mutation_p.P573L|MADD_uc001net.1_Missense_Mutation_p.P573L|MADD_uc009yln.1_Missense_Mutation_p.P573L|MADD_uc001neu.1_Missense_Mutation_p.P573L|MADD_uc001nez.2_Missense_Mutation_p.P573L|MADD_uc001new.2_Missense_Mutation_p.P573L|MADD_uc001nex.2_Missense_Mutation_p.P573L	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	573					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ATGTTTGATCCAGCCCTGATT	0.483000														61			19		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484930	43484930	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:43484930C>T	uc003tid.1	+	10	2764	c.2159C>T	c.(2158-2160)tCc>tTc	p.S720F	HECW1_uc011kbi.1_Missense_Mutation_p.S720F	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	720					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACGCGCTTCTCCTCCGTGGAC	0.622000														121			21		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2830723	2830723	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:2830723C>T	uc022aqr.1	-	56	9229	c.8839G>A	c.(8839-8841)Gaa>Aaa	p.E2947K	CSMD1_uc011kwj.2_Missense_Mutation_p.E2277K|CSMD1_uc010lrg.3_Missense_Mutation_p.E958K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2948	Sushi 22.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCCCCATTTCACAGGAGAAG	0.557000														123			60		0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153130594	153130594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:153130594G>A	uc004fjb.3	-	20	2929	c.2821C>T	c.(2821-2823)Cca>Tca	p.P941S	L1CAM_uc004fjc.3_Missense_Mutation_p.P941S|L1CAM_uc010nuo.3_Missense_Mutation_p.P936S	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	941	Fibronectin type-III 4.		Missing (in HSAS).|P -> L (in HSAS and MASA).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCTGAGTGGGGGCTGCCAG	0.701000														7			11		0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23391491	23391491	+	Splice_Site	SNP	G	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:23391491G>C	uc002dln.3	+	12	1718	c.1542_splice	c.e12+1	p.N514_splice		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	514					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	AGCCAATAACGTGAGTTTAGG	0.532000														44			16		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57578924	57578924	+	Silent	SNP	C	T	T	rs141806742		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:57578924C>T	uc001snd.3	+	39	6865	c.6399C>T	c.(6397-6399)ccC>ccT	p.P2133P		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2133					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACTCCGTGCCCCTGCGAACCG	0.607000														84			11		0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34025151	34025151	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:34025151C>T	uc010gfc.1	-	0	799	c.558G>A	c.(556-558)aaG>aaA	p.K186K	GDF5_uc002xck.1_Silent_p.K186K	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	186					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TGTTGCCTCCCTTTCTGTCAG	0.632000														58			21		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3030152	3030152	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:3030152G>A	uc003bpc.3	+	13	1821	c.1482G>A	c.(1480-1482)gtG>gtA	p.V494V	CNTN4_uc003bpb.1_Silent_p.V166V|CNTN4_uc021wsg.1_Silent_p.V494V|CNTN4_uc003bpd.1_Silent_p.V494V|CNTN4_uc003bpe.3_Silent_p.V166V|CNTN4_uc003bpf.3_Silent_p.V166V	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	494					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.F493L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ACTTGGTAGTGAAAGGTAATG	0.373000														38			14		0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124219548	124219548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:124219548C>T	uc003ypv.3	+	4	2939	c.925C>T	c.(925-927)Ccg>Tcg	p.P309S	FAM83A_uc003ypw.3_Missense_Mutation_p.P309S|FAM83A_uc003ypx.3_Missense_Mutation_p.P309S|FAM83A_uc003ypy.3_Missense_Mutation_p.P253S|FAM83A_uc003ypz.3_Missense_Mutation_p.P309S	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	309										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CGCCCCCGTCCCGCCCGGAGC	0.706000														10			5		0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144621080	144621080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:144621080G>A	uc003yyd.2	-	1	486	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	153					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TCACTCCAGGGGGTTTCCTCA	0.612000														35			15		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632249	156632249	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:156632249G>A	uc003iov.3	+	6	1468	c.932G>A	c.(931-933)aGg>aAg	p.R311K	GUCY1A3_uc003iou.2_Missense_Mutation_p.R311K|GUCY1A3_uc010iqc.2_Missense_Mutation_p.R311K|GUCY1A3_uc010iqd.3_Missense_Mutation_p.R310K|GUCY1A3_uc003iow.3_Missense_Mutation_p.R311K|GUCY1A3_uc003iox.3_Missense_Mutation_p.R311K|GUCY1A3_uc010iqe.3_Missense_Mutation_p.R76K|GUCY1A3_uc003ioy.3_Missense_Mutation_p.R311K|GUCY1A3_uc003ioz.3_Missense_Mutation_p.R76K|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.R311K	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	311					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTGATGAACAGGAGAGACTTT	0.383000														38			17		0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978391	10978391	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:10978391T>C	uc001qyy.1	-	0	478	c.478A>G	c.(478-480)Aca>Gca	p.T160A		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	160					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TCCCAGACTGTGTCATTCTTC	0.303000														35			8		0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44685638	44685638	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:44685638A>G	uc003cnm.3	+	5	3222	c.3016A>G	c.(3016-3018)Aaa>Gaa	p.K1006E	ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	1006					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TCTTCAACAGAAAATCCATAC	0.358000														7			22		0	0	1	0	0
C12orf26	84190	broad.mit.edu	37	12	82870468	82870468	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:82870468C>T	uc001szq.3	+	9	1687	c.1618C>T	c.(1618-1620)Cga>Tga	p.R540*		NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN	Homo sapiens chromosome 12 open reading frame 26 (C12orf26), mRNA.	540								p.R540G(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	19						GTATAAGCCTCGAATGAATGA	0.279000														18			27		0	0	1	0	0
EIF5A	1984	broad.mit.edu	37	17	7213002	7213002	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:7213002C>T	uc010vtv.2	+	1	285	c.48C>T	c.(46-48)gcC>gcT	p.A16A	EIF5A_uc002gfr.3_Silent_p.A46A|EIF5A_uc010vtu.1_Missense_Mutation_p.P6L|EIF5A_uc002gft.3_Silent_p.A16A|EIF5A_uc002gfu.3_Silent_p.A16A	NM_001970	NP_001961	P63241	IF5A1_HUMAN	Homo sapiens eukaryotic translation initiation factor 5A (EIF5A), transcript variant B, mRNA.	16					induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	U6 snRNA binding|protein N-terminus binding|ribosome binding|translation elongation factor activity			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						GGGCCTCAGCCACCTTCCCAA	0.493000														54			181		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65955829	65955829	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:65955829C>T	uc002jgf.3	+	23	8160	c.8099C>T	c.(8098-8100)tCc>tTc	p.S2700F	BPTF_uc002jge.3_Missense_Mutation_p.S2683F|BPTF_uc021uca.1_Missense_Mutation_p.S500F|BPTF_uc002jgg.3_Missense_Mutation_p.S357F|BPTF_uc002jgh.3_Missense_Mutation_p.S159F	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	2826					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGCCTTCTGTCCACGCCCACC	0.577000														37			11		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158262476	158262476	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:158262476C>T	uc003ipm.4	+	11	2364	c.1905C>T	c.(1903-1905)tcC>tcT	p.S635S	GRIA2_uc011cit.2_Silent_p.S588S|GRIA2_uc003ipl.4_Silent_p.S635S|GRIA2_uc003ipk.4_Silent_p.S588S|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	635					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.I634I(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TCATAATCTCCTCCTACACGG	0.433000														83			81		0	0	1	0	0
LUC7L	55692	broad.mit.edu	37	16	249084	249084	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:249084G>A	uc002cgc.1	-	5	775	c.664C>T	c.(664-666)Cga>Tga	p.R222*	LUC7L_uc002cga.1_Nonsense_Mutation_p.R222*|LUC7L_uc002cgd.1_Non-coding_Transcript|LUC7L_uc002cge.1_Nonsense_Mutation_p.R222*|LUC7L_uc021szo.1_Nonsense_Mutation_p.R169*|LUC7L_uc002cgb.1_Nonsense_Mutation_p.R136*	NM_201412	NP_958815	Q9NQ29	LUC7L_HUMAN	Homo sapiens LUC7-like (S. cerevisiae) (LUC7L), transcript variant 2, mRNA.	222							metal ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				AGCTTCTCTCGGATCTGAATG	0.458000														82			32		0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36370325	36370325	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:36370325C>T	uc002oce.3	+	16	2073	c.1935C>T	c.(1933-1935)ttC>ttT	p.F645F	APLP1_uc010xsz.2_Silent_p.F606F|APLP1_uc002ocf.3_Silent_p.F646F|APLP1_uc002ocg.3_Silent_p.F549F|APLP1_uc010xta.2_Silent_p.F639F	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	645					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	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)			CTTACCGCTTCCTGGAGGAAC	0.667000														62			41		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149524869	149524869	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:149524869G>A	uc010lpk.3	+	103	14753	c.14753G>A	c.(14752-14754)gGg>gAg	p.G4918E	SSPO_uc010lpm.1_Non-coding_Transcript|SSPO_uc003wgg.2_Non-coding_Transcript|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_Non-coding_Transcript	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4926					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGCCCCCTGGGGAAACGTGG	0.632000														15			3		0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123336679	123336679	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:123336679G>A	uc003ieo.3	+	10	1627	c.1395G>A	c.(1393-1395)atG>atA	p.M465I	ADAD1_uc003iep.3_Missense_Mutation_p.M454I|ADAD1_uc003ieq.3_Missense_Mutation_p.M447I	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	465	A to I editase.				RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding	p.M465I(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCCTTCAAATGAACTTGGAAT	0.388000														111			50		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92733260	92733260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:92733260C>T	uc003umf.3	-	2	2421	c.2151G>A	c.(2149-2151)atG>atA	p.M717I	SAMD9_uc003umg.3_Missense_Mutation_p.M717I|SAMD9_uc022ahg.1_Missense_Mutation_p.M717I	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	717						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AGTTTTGAATCATTGCTTCAA	0.388000														156			34		0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605445	140605445	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140605445C>T	uc003ljb.3	+	0	2368	c.2368C>T	c.(2368-2370)Cga>Tga	p.R790*		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	790					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.R790*(4)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGAACTTTCGAAATAGCTT	0.343000														19			37		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479926	142479926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142479926G>A	uc011ksq.2	+	1	141	c.58G>A	c.(58-60)Gat>Aat	p.D20N	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		CCCCTTTGATGATGATGACAA	0.547000														35			24		0	0	1	0	0
CPNE6	9362	broad.mit.edu	37	14	24546584	24546584	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:24546584C>T	uc010tnv.2	+	15	1832	c.1686C>T	c.(1684-1686)ttC>ttT	p.F562F	CPNE6_uc001wlm.3_Silent_p.F332F|CPNE6_uc001wll.3_Silent_p.F507F|CPNE6_uc001wln.3_Silent_p.F175F	NM_006032	NP_006023	O95741	CPNE6_HUMAN	Homo sapiens copine VI (neuronal) (CPNE6), mRNA.	507					lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		TCGTGCCCTTCCGAGACTTCA	0.617000														43			37		0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367281	105367281	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:105367281C>T	uc003ylx.1	+	2	1255	c.1206C>T	c.(1204-1206)atC>atT	p.I402I		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	402					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											AACTTAAAATCCTGGTGTCAG	0.443000														35			67		0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157732033	157732033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:157732033G>A	uc003iph.2	-	2	942	c.451C>T	c.(451-453)Cct>Tct	p.P151S	PDGFC_uc003ipi.2_5'UTR|PDGFC_uc011cis.2_5'UTR|PDGFC_uc011cir.2_Intron	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	151	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		GGTTCAGAAGGAAAATATTCA	0.368000														30			31		0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56141063	56141063	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:56141063G>A	uc002adj.3	-	10	2926	c.2626C>T	c.(2626-2628)Cca>Tca	p.P876S	NEDD4_uc002adl.3_Missense_Mutation_p.P457S|NEDD4_uc002adi.3_Missense_Mutation_p.P804S|NEDD4_uc010ugj.2_Missense_Mutation_p.P860S|NEDD4_uc010bfm.3_Missense_Mutation_p.P859S|NEDD4_uc002adk.3_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	876	Mediates interaction with TNIK (By similarity).				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	RNA polymerase binding|beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		AGATGGGCTGGAATTTTCAAT	0.343000														60			43		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55144763	55144763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55144763G>A	uc002qgj.3	+	7	1595	c.1255G>A	c.(1255-1257)Gtc>Atc	p.V419I	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.V419I|LILRB1_uc002qgk.3_Missense_Mutation_p.V419I|LILRB1_uc002qgm.3_Missense_Mutation_p.V419I|LILRB1_uc010erq.3_Missense_Mutation_p.V419I|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	419					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGAGCTCGTGGTCTCAGGTGG	0.637000										HNSCC(37;0.09)				56			25		0	0	1	0	0
EPHX2	2053	broad.mit.edu	37	8	27396183	27396183	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:27396183T>C	uc003xfu.3	+	13	1331	c.1250T>C	c.(1249-1251)tTa>tCa	p.L417S	EPHX2_uc010lut.1_Missense_Mutation_p.L417S|EPHX2_uc010luv.3_Missense_Mutation_p.L351S|EPHX2_uc003xfv.3_Missense_Mutation_p.L364S|EPHX2_uc010luw.3_Missense_Mutation_p.L351S	NM_001979	NP_001970	P34913	HYES_HUMAN	Homo sapiens epoxide hydrolase 2, cytoplasmic (EPHX2), mRNA.	417	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	Golgi apparatus|cytosol|focal adhesion|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	CAGAGTGTTTTATCCATGCAT	0.403000														28			12		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70949819	70949819	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:70949819C>T	uc001swb.4	-	16	4200	c.4170G>A	c.(4168-4170)cgG>cgA	p.R1390R	PTPRB_uc010sto.2_Silent_p.R1300R|PTPRB_uc010stp.2_Silent_p.R1300R|PTPRB_uc001swc.4_Silent_p.R1608R|PTPRB_uc001swa.4_Silent_p.R1520R	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1390	Fibronectin type-III 16.				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)			TGTCCATTTTCCGGCATTCAA	0.458000														38			10		0	0	1	0	0
AMTN	401138	broad.mit.edu	37	4	71390640	71390640	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:71390640C>T	uc003hfk.1	+	4	345	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L	AMTN_uc010ihy.1_Silent_p.L85L	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	Homo sapiens amelotin (AMTN), mRNA.	86					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			CCCATTGACCCTGGGAGGGTT	0.448000														37			17		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96945167	96945167	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:96945167C>T	uc010how.1	+	3	1217	c.1174C>T	c.(1174-1176)Cca>Tca	p.P392S	EPHA6_uc003drp.1_Missense_Mutation_p.P392S	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	297	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TAAATGTCCTCCACACAGTTT	0.373000														31			60		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284957	223284957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:223284957G>A	uc021pjl.1	-	0	1417	c.1417C>T	c.(1417-1419)Ccc>Tcc	p.P473S	TLR5_uc001hnv.2_Missense_Mutation_p.P473S|TLR5_uc001hnw.2_Missense_Mutation_p.P473S	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	473			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TCTAAGCTGGGATTCTCTGAA	0.423000														65			43		0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60193865	60193865	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:60193865G>A	uc001xen.1	-	2	1746	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	RTN1_uc001xem.1_Missense_Mutation_p.R93W	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	513					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AGGCCCCGCCGGCTTGGCGCA	0.726000														14			4		0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102227834	102227834	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:102227834G>A	uc001vpb.3	+	3	742	c.523G>A	c.(523-525)Ggt>Agt	p.G175S	ITGBL1_uc010agb.3_Missense_Mutation_p.G126S|ITGBL1_uc001vpc.4_Missense_Mutation_p.G34S	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	175	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACTTGTGTATGGTAAATTTTG	0.358000														99			31		0	0	1	0	0
RASL10B	91608	broad.mit.edu	37	17	34062227	34062227	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:34062227C>T	uc002hju.3	+	1	390	c.24C>T	c.(22-24)gcC>gcT	p.A8A		NM_033315	NP_201572	Q96S79	RSLAB_HUMAN	Homo sapiens RAS-like, family 10, member B (RASL10B), mRNA.	8	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACCGGGTGGCCGTGCTGGGGG	0.692000														63			14		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7348333	7348333	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:7348333G>A	uc003bqm.2	+	3	1301	c.1027G>A	c.(1027-1029)Gtg>Atg	p.V343M	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.V343M|GRM7_uc003bql.2_Missense_Mutation_p.V343M|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	343					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GCGAGCCACGGTGGAAGGTAT	0.502000														20			30		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62851143	62851143	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:62851143C>T	uc002yii.3	+	12	2413	c.2049C>T	c.(2047-2049)ttC>ttT	p.F683F	MYT1_uc002yih.3_Silent_p.F385F|MYT1_uc002yij.3_Silent_p.F342F	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	683					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAAATGCTTTCCCcagcagca	0.582000														54			11		0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44186118	44186118	+	Silent	SNP	G	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:44186118G>C	uc003tkl.2	-	7	1433	c.963C>G	c.(961-963)tcC>tcG	p.S321S	GCK_uc003tkj.1_Silent_p.S320S|GCK_uc003tkk.1_Silent_p.S322S	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	321					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GCAGCTGCTCGGAGGCCTCCC	0.647000														178			316		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22920043	22920043	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:22920043C>T	uc001bfx.1	+	6	1592	c.1467C>T	c.(1465-1467)acC>acT	p.T489T		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	489	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.T489T(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCTACTCCACCCTCAAGGCCG	0.697000														11			3		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36875033	36875033	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:36875033C>T	uc003cgj.3	-	20	6157	c.5909G>A	c.(5908-5910)aGa>aAa	p.R1970K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1970					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAGTGCTTCTCTCAGAATGTC	0.552000														16			14		0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139368623	139368623	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:139368623G>A	uc004chx.3	-	2	3754	c.3445C>T	c.(3445-3447)Ccc>Tcc	p.P1149S	SEC16A_uc004chv.4_Missense_Mutation_p.P539S|SEC16A_uc004chw.3_Missense_Mutation_p.P1149S|SEC16A_uc010nbn.3_Missense_Mutation_p.P1149S|SEC16A_uc010nbo.1_Missense_Mutation_p.P1149S	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	971	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGTGGGCCGGGGGCAAGTGCA	0.657000														13			6		0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81207605	81207605	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:81207605G>A	uc003hmd.3	+	2	823	c.586G>A	c.(586-588)Gga>Aga	p.G196R	FGF5_uc003hme.3_3'UTR	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	196					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GAATAAAAGAGGAAAAGCCAA	0.468000														58			74		0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29994069	29994070	+	Missense_Mutation	DNP	CC	TT	TT	rs141012429		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:29994069_29994070CC>TT	uc010bzm.2	+	9	881_882	c.846_847CC>TT	c.(844-849)ctccgg>ctTTgg	p.R283W	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Missense_Mutation_p.R283W|TAOK2_uc021tgf.1_Missense_Mutation_p.R283W|TAOK2_uc002dva.2_Missense_Mutation_p.R283W|TAOK2_uc002dvc.2_Missense_Mutation_p.R283W|TAOK2_uc002dvd.2_Missense_Mutation_p.R110W	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	283					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCTTTGTGCTCCGGGAGCGGCC	0.619000														31			32		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22466140	22466140	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:22466140G>A	uc001wcp.2	+	1	99	c.70G>A	c.(70-72)Gga>Aga	p.G24R	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Missense_Mutation_p.G24R|TCRA_uc001wcr.1_5'UTR|TCRA_uc001wcs.1_5'UTR|TCRA_uc010ajf.1_5'UTR|TCRA_uc010tmm.2_Intron|TCRA_uc001wcq.3_Missense_Mutation_p.G24R|TCRA_uc010ajd.1_Missense_Mutation_p.G24R					Homo sapiens TRA mRNA for T cell receptor alpha chain, partial cds, allele:TRAV19*01+TRAJ53*01.																		CAGTCAACAGGGAGAAGAGGA	0.428000														35			7		0	0	1	0	0
STXBP2	6813	broad.mit.edu	37	19	7707209	7707209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:7707209G>A	uc010xjr.2	+	8	862	c.817G>A	c.(817-819)Gac>Aac	p.D273N	STXBP2_uc002mha.4_Missense_Mutation_p.D262N|STXBP2_uc002mhb.4_Missense_Mutation_p.D259N|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_5'Flank	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	262					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CATAGAGCAGGACACATACAG	0.612000														32			20		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023580	18023580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:18023580G>A	uc021trm.1	+	0	1685	c.1466G>A	c.(1465-1467)gGg>gAg	p.G489E	MYO15A_uc021trl.1_Missense_Mutation_p.G489E	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	489	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AAGCTGTTTGGGAAGGAGAAG	0.627000														36			11		0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102346710	102346710	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:102346710C>T	uc010utr.2	+	0	788	c.788C>T	c.(787-789)cCc>cTc	p.P263L		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTTCCATTTCCCACATCACAT	0.373000														87			8		0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126051155	126051155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:126051155G>A	uc003yrt.3	-	24	3330	c.3001C>T	c.(3001-3003)Cct>Tct	p.P1001S	KIAA0196_uc011lir.2_Missense_Mutation_p.P853S	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	1001					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTGGGGTAAGGAAGTGAAGGG	0.393000														73			29		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31165103	31165103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:31165103C>T	uc002rns.3	-	9	1550	c.910G>A	c.(910-912)Gat>Aat	p.D304N	GALNT14_uc002rnq.3_Missense_Mutation_p.D279N|GALNT14_uc010ymr.2_Missense_Mutation_p.D264N|GALNT14_uc002rnr.3_Missense_Mutation_p.D299N|GALNT14_uc010ezo.2_Missense_Mutation_p.D266N|GALNT14_uc010ezp.1_Intron	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	299	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					ATGTCCATATCATATTTCCCC	0.512000														40			110		0	0	1	0	0
GUF1	60558	broad.mit.edu	37	4	44684357	44684357	+	Nonsense_Mutation	SNP	C	T	T	rs116300982	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:44684357C>T	uc003gww.4	+	4	721	c.514C>T	c.(514-516)Caa>Taa	p.Q172*	GUF1_uc010ifz.1_Non-coding_Transcript	NM_021927	NP_068746	Q8N442	GUF1_HUMAN	Homo sapiens GUF1 GTPase homolog (S. cerevisiae) (GUF1), mRNA.	172					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TCAGGGAATTCAAGCCCAAAC	0.333000														9			59		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48382100	48382100	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:48382100C>T	uc001jez.3	-	3	3663	c.3549G>A	c.(3547-3549)gtG>gtA	p.V1183V		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	1183	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGGTGTCATCCACGTGGTAGG	0.642000														48			16		0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100001806	100001806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:100001806C>T	uc003uut.3	-	13	1561	c.1313G>A	c.(1312-1314)aGa>aAa	p.R438K	ZCWPW1_uc011kjq.2_Missense_Mutation_p.R318K|ZCWPW1_uc003uur.3_Missense_Mutation_p.R318K|ZCWPW1_uc003uus.3_Missense_Mutation_p.R318K|ZCWPW1_uc011kjr.2_Missense_Mutation_p.R438K|ZCWPW1_uc003uuu.1_Missense_Mutation_p.R439K|ZCWPW1_uc011kjp.2_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	438							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTACCTTTTCTTTCCCCATT	0.428000														29			8		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136567205	136567205	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:136567205C>T	uc002tuu.1	-	7	2723	c.2712G>A	c.(2710-2712)cgG>cgA	p.R904R		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	904	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)		GAAAGTCATCCCGAAACGTCC	0.522000														66			25		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38991720	38991720	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:38991720C>T	uc021wvy.1	-	0	333	c.134G>A	c.(133-135)gGa>gAa	p.G45E		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	45					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			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)	GGGTACTTCTCCTGTCTGGTC	0.527000														60			108		0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40661288	40661289	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:40661288_40661289CC>TT	uc001zlk.1	+	7	3064_3065	c.2975_2976CC>TT	c.(2974-2976)tcc>tTT	p.S992F		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	992					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		AGCCTATTCTCCGTGGCAGCTG	0.624000														61			19		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16861050	16861050	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:16861050C>T	uc002neu.4	+	5	2019	c.1597C>T	c.(1597-1599)Cca>Tca	p.P533S	NWD1_uc002net.4_Missense_Mutation_p.P398S|NWD1_uc002nev.4_Missense_Mutation_p.P327S|NWD1_uc021uqg.1_Missense_Mutation_p.P398S	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	533	NACHT.						ATP binding	p.P533T(1)|p.P398T(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTGTGGGAACCCAGGGCGGCT	0.642000														53			12		0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515287	51515287	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:51515287G>A	uc010ric.2	+	0	6	c.6G>A	c.(4-6)gaG>gaA	p.E2E		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						AATACATGGAGAATAGGAATA	0.274000														47			11		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158596668	158596668	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:158596668C>T	uc001fst.1	-	40	5993	c.5794G>A	c.(5794-5796)Gaa>Aaa	p.E1932K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1932					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGTTGAATTCCTGAAAGGCA	0.453000														124			79		0	0	1	0	0
SPRY1	10252	broad.mit.edu	37	4	124323620	124323620	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:124323620C>T	uc003ifa.3	+	1	1061	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	SPRY1_uc003ifb.3_Missense_Mutation_p.R292C|SPRY1_uc021xro.1_Missense_Mutation_p.R292C	NM_199327	NP_955359	O43609	SPY1_HUMAN	Homo sapiens sprouty homolog 1, antagonist of FGF signaling (Drosophila) (SPRY1), transcript variant 2, mRNA.	292	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						CTGGATCCATCGCCCAGGGTG	0.498000														113			24		0	0	1	0	0
MRAP2	112609	broad.mit.edu	37	6	84798839	84798839	+	Missense_Mutation	SNP	G	A	A	rs147564754		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:84798839G>A	uc003pkg.4	+	3	447	c.257G>A	c.(256-258)aGa>aAa	p.R86K	MRAP2_uc010kbo.3_5'UTR	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.	86					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	p.R86K(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						AAGAGATTCAGAATGAACAGC	0.433000														13			13		0	0	1	0	0
ACER1	125981	broad.mit.edu	37	19	6312166	6312166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:6312166C>T	uc002mel.2	-	2	422	c.344G>A	c.(343-345)gGg>gAg	p.G115E		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	115						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CCACCTGTTCCCCCCAAGGAA	0.612000														27			11		0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59012770	59012770	+	Silent	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:59012770G>T	uc002qtc.2	-	3	1175	c.1065C>A	c.(1063-1065)acC>acA	p.T355T	SLC27A5_uc002qtb.3_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA.	355					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(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;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CCAGAACACAGGTGGCTCCTG	0.562000														42			34		5.91797e-21	5.98731e-21	1	1	0
FPR1	2357	broad.mit.edu	37	19	52249802	52249802	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52249802G>A	uc021uyn.1	-	2	592	c.446C>T	c.(445-447)cCc>cTc	p.P149L	FPR1_uc002pxq.3_Missense_Mutation_p.P149L|FPR1_uc021uyo.1_Missense_Mutation_p.P149L	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	149					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CATCACCCAGGGCCCAATGAT	0.552000														40			35		0	0	1	0	0
CCL16	6360	broad.mit.edu	37	17	34305218	34305218	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:34305218C>T	uc002hkl.3	-	1	225	c.158G>A	c.(157-159)gGa>gAa	p.G53E	CCL16_uc002hkm.3_Non-coding_Transcript	NM_004590	NP_004581	O15467	CCL16_HUMAN	Homo sapiens chemokine (C-C motif) ligand 16 (CCL16), mRNA.	53					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTTCTGTATCCCACCACTAG	0.502000														152			87		0	0	1	0	0
MARCH3	115123	broad.mit.edu	37	5	126206349	126206349	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:126206349C>T	uc003kuf.3	-	4	1193	c.738G>A	c.(736-738)agG>agA	p.R246R		NM_178450	NP_848545	Q86UD3	MARH3_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 3 (MARCH3), mRNA.	246					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		CCTTTGAGTTCCTCTTGACCG	0.488000														29			12		0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104571709	104571709	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:104571709G>A	uc001yop.2	+	9	1180	c.1095G>A	c.(1093-1095)gtG>gtA	p.V365V	ASPG_uc001yoo.2_Silent_p.V393V|ASPG_uc001yoq.2_Silent_p.V365V|ASPG_uc001yor.2_Silent_p.V365V	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA.	365					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						CACCCTCGGTGGAAGAGCGCC	0.677000														31			7		0	0	1	0	0
ORC2	4999	broad.mit.edu	37	2	201785741	201785741	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:201785741G>A	uc002uwr.3	-	13	1540	c.1269C>T	c.(1267-1269)tcC>tcT	p.S423S		NM_006190	NP_006181	Q13416	ORC2_HUMAN	Homo sapiens origin recognition complex, subunit 2 (ORC2), transcript variant 1, mRNA.	423					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|negative regulation of transcription from RNA polymerase II promoter	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GGTGGTCAATGGATGCTATAA	0.353000														14			12		0	0	1	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238657942	238657942	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:238657942C>T	uc002vxe.3	+	5	678	c.386C>T	c.(385-387)aCc>aTc	p.T129I	LRRFIP1_uc002vxc.3_Missense_Mutation_p.T257I|LRRFIP1_uc010znm.2_Missense_Mutation_p.T97I|LRRFIP1_uc002vxd.3_Missense_Mutation_p.T129I|LRRFIP1_uc002vxf.3_Missense_Mutation_p.T97I	NM_001137552	NP_001131024	Q32MZ4	LRRF1_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 1 (LRRFIP1), transcript variant 3, mRNA.	129					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TCCATCGACACCGAGGCATCC	0.498000														18			10		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815544	106815544	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:106815544G>A	uc003ymd.3	+	7	3257	c.3234G>A	c.(3232-3234)tgG>tgA	p.W1078*	ZFPM2_uc011lhs.2_Nonsense_Mutation_p.W809*	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	1078					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.S1077S(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTCCCTCGTGGATCTCTGAGA	0.483000														25			19		0	0	1	0	0
TCTN1	79600	broad.mit.edu	37	12	111057720	111057720	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:111057720G>A	uc001trn.4	+	1	456	c.300G>A	c.(298-300)gtG>gtA	p.V100V	TCTN1_uc010syb.2_Silent_p.V100V|TCTN1_uc010syc.2_Non-coding_Transcript|TCTN1_uc009zvs.3_Silent_p.V100V|TCTN1_uc001trm.3_Silent_p.V40V|TCTN1_uc001trp.4_Silent_p.V100V|TCTN1_uc001tri.3_Silent_p.V44V|TCTN1_uc001trj.2_Silent_p.V44V|TCTN1_uc001trk.4_Non-coding_Transcript	NM_001082538	NP_001076007	Q2MV58	TECT1_HUMAN	Homo sapiens tectonic family member 1 (TCTN1), transcript variant 1, mRNA.	100					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						GCAGCTCCGTGGATTTCAGTG	0.443000														81			19		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764701	92764701	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:92764701G>A	uc003umh.1	-	4	1800	c.584C>T	c.(583-585)cCa>cTa	p.P195L	SAMD9L_uc003umj.1_Missense_Mutation_p.P195L|SAMD9L_uc003umi.1_Missense_Mutation_p.P195L|SAMD9L_uc010lfb.1_Missense_Mutation_p.P195L|SAMD9L_uc003umk.1_Missense_Mutation_p.P195L|SAMD9L_uc010lfc.1_Missense_Mutation_p.P195L|SAMD9L_uc010lfd.1_Missense_Mutation_p.P195L|SAMD9L_uc022ahh.1_Missense_Mutation_p.P195L	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	195										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTCATGTATTGGATCAATGAG	0.403000														58			70		0	0	1	0	0
B3GAT1	27087	broad.mit.edu	37	11	134257515	134257515	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:134257515G>A	uc001qhq.3	-	2	300	c.39C>T	c.(37-39)atC>atT	p.I13I	B3GAT1_uc001qhr.3_Silent_p.I13I|B3GAT1_uc010scv.1_Silent_p.I26I	NM_018644	NP_473366	Q9P2W7	B3GA1_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 1, mRNA.	13					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		AGGGCAGCACGATGAGGACGA	0.622000														24			16		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135015204	135015204	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:135015204G>A	uc001llz.1	+	16	3190	c.3189G>A	c.(3187-3189)gtG>gtA	p.V1063V	KNDC1_uc001lma.1_Silent_p.V998V|KNDC1_uc001lmb.1_Silent_p.V475V	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1063					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCTCAGACGTGGAGGCAGTGA	0.697000														24			16		0	0	1	0	0
C2orf89	129293	broad.mit.edu	37	2	85049122	85049122	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:85049122G>A	uc010ysl.2	-	6	1526	c.1437C>T	c.(1435-1437)gcC>gcT	p.A479A	C2orf89_uc002sou.4_Silent_p.A430A	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	479						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						AGGCACTGCTGGCCACCATCT	0.607000														7			6		0	0	1	0	0
PCP4	5121	broad.mit.edu	37	21	41300978	41300978	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:41300978T>G	uc002yyp.3	+	2	212	c.131T>G	c.(130-132)gTg>gGg	p.V44G		NM_006198	NP_006189	P48539	PCP4_HUMAN	Homo sapiens Purkinje cell protein 4 (PCP4), mRNA.	44	IQ.				central nervous system development	cytosol|nucleus		p.A43A(1)		large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				CGTGCAGCGGTGGCCATTCAG	0.463000														30			27		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96963065	96963065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:96963065G>A	uc010how.1	+	4	1583	c.1540G>A	c.(1540-1542)Gga>Aga	p.G514R	EPHA6_uc003drp.1_Missense_Mutation_p.G514R	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	419	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGCAATGAATGGAGTTTCTGA	0.433000														66			27		0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55110772	55110772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:55110772C>T	uc003jqg.4	+	19	1858	c.1759C>T	c.(1759-1761)Cgc>Tgc	p.R587C	DDX4_uc010ivz.3_Missense_Mutation_p.R567C|DDX4_uc003jqh.4_Missense_Mutation_p.R553C|DDX4_uc003jqj.3_Missense_Mutation_p.R438C	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	587	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGAGATTTTCGCTTTGGAAA	0.403000														27			39		0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79689863	79689863	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:79689863C>T	uc001sys.3	+	7	1160	c.489C>T	c.(487-489)atC>atT	p.I163I	SYT1_uc001syt.3_Silent_p.I163I|SYT1_uc001syu.3_Silent_p.I160I|SYT1_uc001syv.3_Silent_p.I163I	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	163	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TGGTAGGGATCATTCAGGCTG	0.428000														52			16		0	0	1	0	0
TAS2R50	259296	broad.mit.edu	37	12	11139091	11139091	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11139091C>T	uc001qzl.2	-	0	421	c.369G>A	c.(367-369)agG>agA	p.R123R	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176890	NP_795371	P59544	T2R50_HUMAN	Homo sapiens taste receptor, type 2, member 50 (TAS2R50), mRNA.	123					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TCCTAACTCTCCTCTTTAAAT	0.398000														101			78		0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95670554	95670554	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:95670554C>T	uc001yef.2	-	8	1248	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	378						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TGCATGAACTCGGTGGAGCTG	0.542000														58			25		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133192488	133192488	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:133192488G>A	uc003ytj.3	-	3	918	c.693C>T	c.(691-693)ttC>ttT	p.F231F	KCNQ3_uc003yti.3_Silent_p.F111F|KCNQ3_uc010mdt.3_Silent_p.F231F	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	231					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R230H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGATCTGCAGGAAGCGCAGGC	0.587000														65			30		0	0	1	0	0
PDCD1LG2	80380	broad.mit.edu	37	9	5557717	5557717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:5557717G>A	uc011lmc.2	+	4	1004	c.731G>A	c.(730-732)aGa>aAa	p.R244K	PLGRKT_uc003zjd.3_Intron|PDCD1LG2_uc003zjg.4_Missense_Mutation_p.R244K|PDCD1LG2_uc011lmd.2_Silent_p.K242K|PDCD1LG2_uc010mhp.1_Silent_p.K152K|PDCD1LG2_uc010mho.1_Missense_Mutation_p.R154K	NM_025239	NP_079515	Q9BQ51	PD1L2_HUMAN	Homo sapiens programmed cell death 1 ligand 2 (PDCD1LG2), mRNA.	244					T cell costimulation|immune response	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		ATAGCCCTAAGAAAACAACTC	0.448000														37			24		0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100187615	100187615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:100187615C>T	uc011kjz.1	+	1	237	c.169C>T	c.(169-171)Cct>Tct	p.P57S	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Missense_Mutation_p.P19S|FBXO24_uc003uvm.1_Missense_Mutation_p.P19S|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Missense_Mutation_p.P7S	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	19	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GAGAAGCTGCCCTTCTTGTGG	0.562000														44			55		0	0	1	0	0
CST6	1474	broad.mit.edu	37	11	65780337	65780337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:65780337G>A	uc001ogr.3	+	1	335	c.281G>A	c.(280-282)gGg>gAg	p.G94E	CST6_uc001ogs.1_Missense_Mutation_p.G4E	NM_001323	NP_001314	Q15828	CYTM_HUMAN	Homo sapiens cystatin E/M (CST6), mRNA.	94					anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(1)|ovary(1)	3						ATGGAGATGGGGAGCACAGAC	0.627000														32			16		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4091446	4091446	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:4091446C>T	uc003smx.3	+	18	3034	c.2895C>T	c.(2893-2895)gtC>gtT	p.V965V	SDK1_uc010kso.3_Silent_p.V241V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	965	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTCAGCTGGTCTGGACTCAGG	0.522000														129			86		0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141429444	141429444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141429444G>A	uc003vwn.2	+	10	2055	c.1649G>A	c.(1648-1650)gGa>gAa	p.G550E	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	550					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	p.G550E(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CTGGTGGGAGGAAAGAGTGCA	0.547000														40			19		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33577937	33577937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:33577937G>A	uc002xbi.2	+	20	2331	c.2014G>A	c.(2014-2016)Ggc>Agc	p.G672S	MIR499A_uc021wcg.1_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	630	Actin-binding (By similarity).|Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity	p.A671V(2)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAATTATGCGGGCTCCTGCTC	0.547000														86			21		0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44052093	44052093	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:44052093A>C	uc002rtn.3	-	6	979	c.839T>G	c.(838-840)aTg>aGg	p.M280R	ABCG5_uc002rtm.3_Intron|ABCG5_uc002rto.3_Intron|ABCG5_uc002rtp.3_Intron	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	280	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAAATCAAGCATTTCCGCTGG	0.433000														69			218		0	0	1	0	0
SCARF1	8578	broad.mit.edu	37	17	1538393	1538393	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:1538393C>T	uc002fsz.1	-	10	2202	c.2152G>A	c.(2152-2154)Ggc>Agc	p.G718S	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Missense_Mutation_p.G632S	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	718	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCCGCCTGGCCTTTCTGGAAG	0.637000														25			22		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43411173	43411173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:43411173G>A	uc002ovj.1	-	4	1240	c.1141C>T	c.(1141-1143)Ccc>Tcc	p.P381S	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.P221S|PSG4_uc002ovg.1_Missense_Mutation_p.P381S	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	382	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GTAATTTGGGGGATAAAGAGC	0.453000														232			58		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39442147	39442147	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:39442147C>T	uc003xni.3	+	0	61	c.6C>T	c.(4-6)ttC>ttT	p.F2F	ADAM18_uc003xnh.3_Silent_p.F2F|ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Silent_p.F2F	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	2					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)			GAGCCATGTTCCTTCTCCTCG	0.627000														59			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179422801	179422801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179422801C>T	uc021vsy.1	-	276	79801	c.79576G>A	c.(79576-79578)Gaa>Aaa	p.E26526K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E20221K|TTN_uc021vta.1_Missense_Mutation_p.E20154K|TTN_uc021vtb.1_Missense_Mutation_p.E20029K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27453	Fibronectin type-III 93.						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)			GCAGTAATTTCGGTATTAAAT	0.428000														63			26		0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111688404	111688404	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:111688404G>A	uc003puy.4	-	13	6928	c.6587C>T	c.(6586-6588)tCa>tTa	p.S2196L	REV3L_uc003pux.4_Missense_Mutation_p.S2118L|REV3L_uc003puz.4_Missense_Mutation_p.S2118L|REV3L_uc003pva.1_Non-coding_Transcript	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	2196					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAAGCAAAGTGATTCACATTT	0.413000								DNA polymerases (catalytic subunits)						26			16		0	0	1	0	0
DKK3	27122	broad.mit.edu	37	11	12023884	12023884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:12023884C>T	uc010rcg.1	-	2	472	c.314G>A	c.(313-315)gGa>gAa	p.G105E	DKK3_uc010rcf.2_Missense_Mutation_p.G105E|DKK3_uc001mju.3_Missense_Mutation_p.G105E|DKK3_uc001mjv.3_Missense_Mutation_p.G105E|DKK3_uc001mjw.3_Missense_Mutation_p.G105E	NM_015881	NP_056965	Q9UBP4	DKK3_HUMAN	Homo sapiens dickkopf 3 homolog (Xenopus laevis) (DKK3), transcript variant 1, mRNA.	105					Wnt receptor signaling pathway|adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent	extracellular space		p.G105A(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		GGTATTATTTCCAACCTTCGT	0.463000														40			16		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46932242	46932242	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:46932242C>T	uc003bhw.1	-	0	826	c.826G>A	c.(826-828)Gag>Aag	p.E276K		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	276	Cadherin 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGCTCCTCCTCGCCCTCGATG	0.632000														42			26		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20559468	20559469	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:20559468_20559469CC>TT	uc002dhj.4	-	8	1223_1224	c.1013_1014GG>AA	c.(1012-1014)ggg>gAA	p.G338E	ACSM2B_uc002dhk.4_Missense_Mutation_p.G338E|ACSM2B_uc010bwf.1_Missense_Mutation_p.G338E	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	338					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.G338R(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GAAGGGACTCCCCTCCAGCGAG	0.530000														106			47		0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44975515	44975515	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:44975515G>A	uc001wvn.3	-	0	985	c.676C>T	c.(676-678)Ccc>Tcc	p.P226S		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	226						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGTACCGGGGGACCTTTTTTA	0.403000														77			21		0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929509	4929509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:4929509G>A	uc010qyq.2	+	0	910	c.910G>A	c.(910-912)Ggg>Agg	p.G304R		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		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)		GAAGATCTTGGGGAAGTTGCT	0.398000														51			15		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21793478	21793478	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:21793478G>A	uc001wag.3	+	14	2303	c.2303G>A	c.(2302-2304)cGa>cAa	p.R768Q	RPGRIP1_uc001wah.3_Missense_Mutation_p.R410Q|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001wak.3_Missense_Mutation_p.R243Q|RPGRIP1_uc010aim.3_Missense_Mutation_p.R151Q|RPGRIP1_uc001wal.3_Missense_Mutation_p.R127Q|RPGRIP1_uc001wam.3_Missense_Mutation_p.R85Q	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	768					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TGCAATAAACGAAAGAAAGCC	0.542000														14			4		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50717035	50717035	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:50717035A>G	uc003bkv.4	-	28	4730	c.4637T>C	c.(4636-4638)aTg>aCg	p.M1546T	PLXNB2_uc003bkt.1_Missense_Mutation_p.M338T|PLXNB2_uc003bku.1_Missense_Mutation_p.M531T	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1546					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATTGTAGTGCATAAGGGTGTT	0.677000														9			8		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139144955	139144955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:139144955G>A	uc003yuy.3	-	19	4273	c.4102C>T	c.(4102-4104)Cac>Tac	p.H1368Y	FAM135B_uc003yux.3_Missense_Mutation_p.H1269Y|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1368								p.H1368H(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGCAGGGCGTGGAACACGTTG	0.542000										HNSCC(54;0.14)				152			90		0	0	1	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13503904	13503904	+	Silent	SNP	C	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:13503904C>G	uc002gob.1	-	0	1341	c.543G>C	c.(541-543)gtG>gtC	p.V181V		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA.	181						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCTCGGCGCCCACGGCGCGCA	0.721000														17			3		0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7798689	7798689	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:7798689C>T	uc002gjd.2	+	9	1715	c.1713C>T	c.(1711-1713)atC>atT	p.I571I	CHD3_uc002gje.2_Silent_p.I512I|CHD3_uc002gjf.2_Silent_p.I512I|CHD3_uc002gjg.1_Silent_p.I340I	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	512	Chromo 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGCAGAAGATCCTACATTGGC	0.557000														97			25		0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13896136	13896136	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:13896136C>T	uc003bye.1	-	2	768	c.463G>A	c.(463-465)Gac>Aac	p.D155N		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	155					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TAGCGGATGTCGGCAGAGCAG	0.607000														36			115		0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90874525	90874525	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:90874525C>T	uc003hst.3	+	7	3714	c.3643C>T	c.(3643-3645)Ccc>Tcc	p.P1215S	MMRN1_uc010iku.3_Missense_Mutation_p.P518S|MMRN1_uc011cds.2_Missense_Mutation_p.P957S	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	1215	C1q.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AGCCAAGTTTCCCCCTGTTAC	0.363000														24			31		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466462	56466462	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56466462G>A	uc002qmh.3	+	2	1109	c.1038G>A	c.(1036-1038)ctG>ctA	p.L346L	NLRP8_uc010etg.3_Silent_p.L346L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	346	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGCCCTTGCTGAAATGTCCCT	0.463000														48			22		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121209083	121209083	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:121209083G>A	uc003yox.3	+	5	755	c.490G>A	c.(490-492)Gat>Aat	p.D164N	COL14A1_uc003yoy.3_5'UTR|COL14A1_uc010mde.1_5'UTR	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	164	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATCCTGGTCGATGGTTCATG	0.438000														68			19		0	0	1	0	0
ANKRD20A3	441425	broad.mit.edu	37	9	42368545	42368545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:42368545G>A	uc004acd.3	+	0	243	c.131G>A	c.(130-132)gGc>gAc	p.G44D	ANKRD20A3_uc010mmv.3_Missense_Mutation_p.G44D	NM_001012419	NP_001012421	Q5VUR7	A20A3_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A3 (ANKRD20A3), mRNA.	44																	GCTGTCAAAGGCGACGCCGCG	0.677000														48			21		0	0	1	0	0
USP9Y	8287	broad.mit.edu	37	Y	14902403	14902403	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrY:14902403C>T	uc004fst.1	+	24	4570	c.3625C>T	c.(3625-3627)Ccc>Tcc	p.P1209S	USP9Y_uc010nwu.1_Non-coding_Transcript	NM_004654	NP_004645	O00507	USP9Y_HUMAN	Homo sapiens ubiquitin specific peptidase 9, Y-linked (USP9Y), mRNA.	1209					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CATTCCTAATCCCTCATCCGA	0.378000														21			19		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515917	140515917	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140515917C>T	uc003liq.3	+	0	1118	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	301	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCAGAAATTCGCCTGAAAAG	0.438000														100			17		0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109796959	109796959	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:109796959C>T	uc003ymy.1	-	1	474	c.369G>A	c.(367-369)cgG>cgA	p.R123R	TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Silent_p.R123R	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	Homo sapiens transmembrane protein 74 (TMEM74), mRNA.	123					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			AGCTCCGGTTCCGCTGCTCCA	0.473000														57			23		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175355239	175355239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:175355239C>T	uc001gkp.1	-	5	1787	c.1706G>A	c.(1705-1707)cGa>cAa	p.R569Q	TNR_uc009wwu.1_Missense_Mutation_p.R569Q	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	569	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACCTCGTATCGGGAGCCAGG	0.627000														78			22		0	0	1	0	0
E2F1	1869	broad.mit.edu	37	20	32265097	32265097	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:32265097C>T	uc002wzu.4	-	5	1020	c.880G>A	c.(880-882)Gat>Aat	p.D294N	NECAB3_uc002wzm.4_5'Flank|NECAB3_uc002wzn.4_5'Flank|NECAB3_uc002wzo.4_5'Flank	NM_005225	NP_005216	Q01094	E2F1_HUMAN	Homo sapiens E2F transcription factor 1 (E2F1), mRNA.	294	Required for interaction with TRIM28.				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|apoptosis|cell proliferation|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	Rb-E2F complex|mitochondrion	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						AGGAAAACATCGATCGGGCCT	0.592000														46			11		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48227885	48227885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:48227885C>T	uc002eff.1	-	17	2763	c.2413G>A	c.(2413-2415)Gtc>Atc	p.V805I	ABCC11_uc002efg.1_Missense_Mutation_p.V805I|ABCC11_uc002efh.1_Missense_Mutation_p.V805I|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	805						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				ATGCAAGAGACCATGTAACCT	0.532000														14			10		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26455093	26455093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:26455093C>T	uc001isn.2	+	26	3457	c.3097C>T	c.(3097-3099)Ctt>Ttt	p.L1033F	MYO3A_uc009xko.1_Missense_Mutation_p.L1033F|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1033	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						TAACTGGGCTCTTGGAAAAAC	0.398000														162			41		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582526	179582526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179582526G>A	uc021vsy.1	-	83	21568	c.21343C>T	c.(21343-21345)Cca>Tca	p.P7115S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P3776S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8042	Ig-like 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P7114H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGAAAGGTGGAAGTTTGCGC	0.388000														15			7		0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67816686	67816686	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:67816686G>A	uc001ddu.3	+	8	1812	c.1172G>A	c.(1171-1173)gGa>gAa	p.G391E	IL12RB2_uc010oqi.2_Missense_Mutation_p.G391E|IL12RB2_uc010oqj.2_Missense_Mutation_p.G391E|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_Missense_Mutation_p.G391E|IL12RB2_uc010oqm.2_Missense_Mutation_p.G391E|IL12RB2_uc010oqn.2_Non-coding_Transcript	NM_001559	NP_001550	Q99665	I12R2_HUMAN	Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA.	391	Fibronectin type-III 3.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CCTAGAACCGGAAATTGGGCT	0.488000														5			28		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101413904	101413904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:101413904G>A	uc010svm.1	+	8	1399	c.827G>A	c.(826-828)gGa>gAa	p.G276E	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.G241E|ANO4_uc001thx.2_Missense_Mutation_p.G276E	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	276						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TATGAAGAAGGAAAAAACAAG	0.318000										HNSCC(74;0.22)				1			11		0	0	1	0	0
SP8	221833	broad.mit.edu	37	7	20825373	20825373	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:20825373G>A	uc003suz.3	-	1	154	c.63C>T	c.(61-63)gcC>gcT	p.A21A	SP8_uc003suy.3_Silent_p.A3A|SP8_uc022aak.1_Silent_p.A3A	NM_182700	NP_945194	Q8IXZ3	SP8_HUMAN	Homo sapiens Sp8 transcription factor (SP8), transcript variant 1, mRNA.	3	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						TACAGGTAGCGGCAAGCATGG	0.627000														55			35		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87173569	87173569	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:87173569G>A	uc003uiz.2	-	17	2580	c.2087C>T	c.(2086-2088)tCc>tTc	p.S696F	ABCB1_uc011khc.2_Missense_Mutation_p.S632F	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	696					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			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)	CCTCCAAAAGGAAACTGGAGG	0.328000														48			34		0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80223170	80223170	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:80223170A>G	uc003piy.3	-	3	1091	c.479T>C	c.(478-480)cTt>cCt	p.L160P	LCA5_uc003pix.3_Missense_Mutation_p.L160P|LCA5_uc011dyr.2_Missense_Mutation_p.L160P	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	160					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		ACGAAATATAAGTTGTGAGAT	0.363000														21			7		0	0	1	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16734109	16734109	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrY:16734109C>T	uc011nas.1	+	1	289	c.110C>T	c.(109-111)aCc>aTc	p.T37I	NLGN4Y_uc004fte.2_Intron|NLGN4Y_uc004ftg.2_Missense_Mutation_p.T37I|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Missense_Mutation_p.T37I|NLGN4Y_uc004fti.4_Missense_Mutation_p.T37I	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	37					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						ATCAAGTTCACCCTCATTGAC	0.468000														23			14		0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209969715	209969715	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:209969715G>A	uc001hhq.2	-	3	661	c.357C>T	c.(355-357)ccC>ccT	p.P119P	IRF6_uc010psm.2_Silent_p.P24P	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	119					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q118*(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TCGAGCCCTGGGGCTGAGGGA	0.517000										HNSCC(57;0.16)				38			45		0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48510838	48510838	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:48510838C>T	uc010rhx.2	+	0	494	c.494C>T	c.(493-495)cCa>cTa	p.P165L		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L164L(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TATGGGCTCCCATTCTGTGGC	0.448000														93			21		0	0	1	0	0
RNFT1	51136	broad.mit.edu	37	17	58031471	58031471	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:58031471C>T	uc002iya.3	-	7	1201	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	RNFT1_uc002iyb.3_Non-coding_Transcript|RNFT1_uc002iyc.3_Missense_Mutation_p.D108N	NM_016125	NP_057209	Q5M7Z0	RNFT1_HUMAN	Homo sapiens ring finger protein, transmembrane 1 (RNFT1), mRNA.	370						integral to membrane	zinc ion binding			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			TCATCCACATCTGAACACTGT	0.323000														24			13		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76603085	76603085	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:76603085A>C	uc001jwn.1	+	2	963	c.470A>C	c.(469-471)aAa>aCa	p.K157T	KAT6B_uc001jwm.1_Missense_Mutation_p.K157T|KAT6B_uc001jwo.1_Missense_Mutation_p.K157T|KAT6B_uc001jwp.1_Missense_Mutation_p.K157T	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	157	H15.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CTGGGGGCCAAACGCGCTGTG	0.522000														15			32		0	0	1	0	0
GBP2	2634	broad.mit.edu	37	1	89585970	89585971	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:89585970_89585971CC>TT	uc001dmz.1	-	4	590	c.319_splice	c.e4-1	p.G107_splice	GBP2_uc001dmy.1_Splice_Site	NM_004120	NP_004111	P32456	GBP2_HUMAN	Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.	107					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CTCATTGTCACCCTGTAAGTCA	0.460000														17			13		0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211179661	211179661	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:211179661C>T	uc002vec.3	-	0	235	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K		NM_079420	NP_524144	P05976	MYL1_HUMAN	Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA.	36					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TCAATTTTTTCTTCTTTGGGT	0.512000														121			44		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226620	23226620	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:23226620C>T	uc002dlm.1	+	12	1919	c.1780C>T	c.(1780-1782)Cca>Tca	p.P594S		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	594					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)	CCAGGACAATCCAGCCCTGGA	0.612000														57			21		0	0	1	0	0
ISY1-RAB43	100534599	broad.mit.edu	37	3	128852947	128852947	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:128852947C>T	uc003elo.2	-	8	888	c.633G>A	c.(631-633)gaG>gaA	p.E211E	ISY1-RAB43_uc010hsz.2_Intron|ISY1-RAB43_uc010hta.2_Silent_p.E233E|ISY1-RAB43_uc003elp.2_Silent_p.E211E	NM_001204890	NP_001191819	Q9ULR0	ISY1_HUMAN	Homo sapiens ISY1-RAB43 readthrough (ISY1-RAB43), mRNA.	211	Poly-Glu.					catalytic step 2 spliceosome											AGATGTTGATctcttcctcct	0.537000														21			41		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453631	84453631	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:84453631G>A	uc001vlk.3	-	0	2898	c.2012C>T	c.(2011-2013)tCc>tTc	p.S671F		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	671						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTGCCAGTAGGAAGAGTCACA	0.537000														22			8		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509277	71509277	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:71509277G>A	uc011caw.1	+	8	2415	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	712					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAAACCAAGGGAGGATTTTTA	0.408000														43			24		0	0	1	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44506773	44506773	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:44506773A>G	uc002xqd.3	+	1	1821	c.1576A>G	c.(1576-1578)Atg>Gtg	p.M526V	ZSWIM3_uc010zxg.2_Missense_Mutation_p.M520V	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA.	526							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				CCTGGTGGACATGGCTGGCTC	0.542000														26			16		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138545921	138545921	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:138545921G>A	uc011kql.2	-	15	5260	c.5211C>T	c.(5209-5211)ttC>ttT	p.F1737F	KIAA1549_uc011kqi.2_Silent_p.F521F|KIAA1549_uc011kqk.2_Silent_p.F521F|KIAA1549_uc011kqj.2_Silent_p.F1737F	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1737						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTGGGCTGTAGAAGGACCCCC	0.612000			O	BRAF	pilocytic astrocytoma									35			22		0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249356	52249356	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52249356G>A	uc021uyn.1	-	2	1038	c.892C>T	c.(892-894)Ccc>Tcc	p.P298S	FPR1_uc002pxq.3_Missense_Mutation_p.P298S|FPR1_uc021uyo.1_Missense_Mutation_p.P298S	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	298					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	TAGAGCATGGGGTTGAGGCAG	0.547000														44			34		0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863874	55863875	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:55863874_55863875CC>TT	uc010spn.2	-	0	48_49	c.48_49GG>AA	c.(46-51)acggat>acAAat	p.D17N		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TGAGAATTATCCGTCAGTCCCA	0.351000														47			7		0	0	1	0	0
TEAD2	8463	broad.mit.edu	37	19	49863116	49863116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:49863116C>T	uc002pnh.3	-	1	323	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	TEAD2_uc002png.3_Missense_Mutation_p.E73K|TEAD2_uc002pni.3_Missense_Mutation_p.E73K|TEAD2_uc002pnj.3_Missense_Mutation_p.E73K|TEAD2_uc010yao.2_Intron|TEAD2_uc010emw.3_Missense_Mutation_p.E73K	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	Homo sapiens TEA domain family member 2 (TEAD2), mRNA.	73					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		ATCTTGCCTTCATCAGACAAA	0.522000														51			42		0	0	1	0	0
TREML4	285852	broad.mit.edu	37	6	41196546	41196546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:41196546C>T	uc003oqc.3	+	1	262	c.158C>T	c.(157-159)tCc>tTc	p.S53F	TREML4_uc003oqd.3_Non-coding_Transcript	NM_198153	NP_937796	Q6UXN2	TRML4_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 4 (TREML4), mRNA.	53	Ig-like V-type.					extracellular region		p.S53Y(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					CAGCCCAAATCCTGGTGTCAG	0.527000														66			23		0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29920847	29920847	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:29920847G>A	uc021qwi.1	-	1	523	c.464C>T	c.(463-465)cCt>cTt	p.P155L	TMTC1_uc001rjb.3_Missense_Mutation_p.P47L|TMTC1_uc001rjc.1_Missense_Mutation_p.P47L	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.	155						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AGTATGAATAGGATGTACAGC	0.378000														19			14		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962772	73962772	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:73962772G>A	uc004eby.3	-	2	2237	c.1620C>T	c.(1618-1620)atC>atT	p.I540I		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	540					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGATATATTTGATAATAACAG	0.423000														2			23		0	0	1	0	0
ZNF653	115950	broad.mit.edu	37	19	11598658	11598658	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:11598658G>A	uc002mrz.2	-	3	757	c.620C>T	c.(619-621)tCt>tTt	p.S207F		NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	Homo sapiens zinc finger protein 653 (ZNF653), mRNA.	207	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						AGACTCCTCAGAGTCAGAGGC	0.647000														19			5		0	0	1	0	0
OTUD5	55593	broad.mit.edu	37	X	48791869	48791869	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:48791869G>A	uc004dlu.3	-	4	1003	c.942C>T	c.(940-942)ttC>ttT	p.F314F	OTUD5_uc004dlt.4_Silent_p.F309F|OTUD5_uc004dlv.3_Silent_p.F309F|OTUD5_uc011mmp.2_Silent_p.F92F	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN	Homo sapiens OTU domain containing 5 (OTUD5), transcript variant 1, mRNA.	314	OTU.				negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						GTATCCCATGGAATGTGTTGA	0.502000														37			33		0	0	1	0	0
FSCN1	6624	broad.mit.edu	37	7	5633106	5633106	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:5633106C>T	uc003sou.3	+	0	671	c.539C>T	c.(538-540)gCc>gTc	p.A180V		NM_003088	NP_003079	Q16658	FSCN1_HUMAN	Homo sapiens fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) (FSCN1), mRNA.	180					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		ATCACCCTCGCCTTCCAGGAC	0.736000														49			24		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56044656	56044656	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:56044656G>A	uc003pcs.3	-	2	592	c.360C>T	c.(358-360)atC>atT	p.I120I	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Silent_p.I120I|COL21A1_uc003pcu.1_Silent_p.I120I	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	120	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCGCAAACTGGATGGCCTTCC	0.468000														24			12		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140389234	140389234	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140389234C>T	uc003lii.3	+	3	3341	c.2736C>T	c.(2734-2736)tcC>tcT	p.S912S	PCDHAC2_uc003lha.2_Silent_p.S591S|PCDHAC2_uc003lhb.2_Silent_p.S855S|PCDHAC2_uc003lhd.2_Silent_p.S853S|PCDHAC2_uc003lhf.2_Silent_p.S855S|PCDHAC2_uc003lhh.1_Silent_p.S852S|PCDHAC2_uc003lhi.2_Silent_p.S852S|PCDHAC2_uc003lhl.2_Silent_p.S841S|PCDHAC2_uc003lhk.1_Silent_p.S841S|PCDHAC2_uc003lho.2_Silent_p.S855S|PCDHAC2_uc003lhn.2_Silent_p.S591S|PCDHAC2_uc003lhq.2_Silent_p.S842S|PCDHAC2_uc003lhs.2_Silent_p.S855S|PCDHAC2_uc003lhu.2_Silent_p.S855S|PCDHAC2_uc003lhw.2_Silent_p.S590S|PCDHAC2_uc003lhx.2_Silent_p.S853S|PCDHAC2_uc003lia.2_Silent_p.S854S|PCDHAC2_uc003lic.2_Silent_p.S846S|PCDHAC2_uc003lif.2_Silent_p.S855S|PCDHAC2_uc003lie.1_Silent_p.S855S|PCDHAC2_uc003lih.2_Silent_p.S868S	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	912	4 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAAGTGTCCCCTCCAGTCG	0.507000														73			21		0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75766337	75766337	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:75766337G>A	uc010oqz.1	-	3	318	c.252C>T	c.(250-252)ttC>ttT	p.F84F	SLC44A5_uc001dgt.2_Silent_p.F45F|SLC44A5_uc001dgs.2_Silent_p.F3F|SLC44A5_uc001dgr.2_Silent_p.F3F|SLC44A5_uc001dgu.3_Silent_p.F45F|SLC44A5_uc010ora.2_Silent_p.F39F|SLC44A5_uc010orb.2_5'UTR	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	45						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TACACAGTAGGAAGATCATAC	0.333000														30			32		0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154429576	154429576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:154429576C>T	uc003wlk.3	+	5	802	c.673C>T	c.(673-675)Cct>Tct	p.P225S	DPP6_uc003wli.3_Missense_Mutation_p.P161S|DPP6_uc003wlm.3_Missense_Mutation_p.P163S|DPP6_uc011kvq.2_Intron	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	225					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GAGCAAAATTCCTCATGGGTA	0.403000														6			3		0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100919812	100919812	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:100919812T>C	uc004aym.3	-	1	247	c.131A>G	c.(130-132)aAc>aGc	p.N44S	CORO2A_uc004ayl.3_Missense_Mutation_p.N44S|CORO2A_uc004ayn.2_Missense_Mutation_p.N44S	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	44					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAAGTGGGGGTTCACGGCACA	0.577000														2			31		0	0	1	0	0
UROS	7390	broad.mit.edu	37	10	127484704	127484704	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:127484704G>A	uc001liw.4	-	6	662	c.529C>T	c.(529-531)Caa>Taa	p.Q177*	UROS_uc001lix.4_Nonsense_Mutation_p.Q177*	NM_000375	NP_000366	P10746	HEM4_HUMAN	Homo sapiens uroporphyrinogen III synthase (UROS), mRNA.	177					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				AGGTTCCCTTGGATTCCTGGG	0.557000														136			39		0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43704778	43704778	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:43704778C>T	uc011aev.2	+	6	950	c.876C>T	c.(874-876)ttC>ttT	p.F292F	ABCG1_uc002zam.3_Silent_p.F259F|ABCG1_uc002zan.3_Silent_p.F283F|ABCG1_uc002zao.3_Silent_p.F278F|ABCG1_uc002zap.3_Silent_p.F281F|ABCG1_uc002zaq.3_Silent_p.F281F|ABCG1_uc002zar.3_Silent_p.F292F|ABCG1_uc010gpb.2_5'Flank	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	281	ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCAAACTCTTCGAGCTGTTCG	0.627000														56			14		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50705364	50705364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:50705364C>T	uc002lfe.2	+	8	2067	c.1451C>T	c.(1450-1452)tCc>tTc	p.S484F	DCC_uc010xdr.1_Missense_Mutation_p.S332F|DCC_uc010dpf.2_Missense_Mutation_p.S139F	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	484	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.S484S(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAGCCTGGGTCCCTTCAGCTC	0.453000														23			15		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137703188	137703188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:137703188C>T	uc004cfe.3	+	44	3914	c.3532C>T	c.(3532-3534)Cct>Tct	p.P1178S		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1178	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCGCAGGGTCCTCCTGGGCC	0.612000											OREG0019605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		75			41		0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185882805	185882805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:185882805G>A	uc003fqa.3	-	22	2635	c.2098C>T	c.(2098-2100)Ctc>Ttc	p.L700F	DGKG_uc003fqb.3_Missense_Mutation_p.L661F|DGKG_uc003fqc.3_Missense_Mutation_p.L675F|DGKG_uc011brx.2_Missense_Mutation_p.L641F	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	700					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TGGTCACTGAGGTCTGCAGAG	0.557000														50			17		0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3633482	3633482	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:3633482G>A	uc002lyj.2	-	16	2046	c.1957C>T	c.(1957-1959)Cac>Tac	p.H653Y	PIP5K1C_uc010xhq.2_Intron	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	653	Mediates interaction with TLN2.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	p.L652F(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GCGCTATAGTGGAGCGGGGAG	0.697000														16			16		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10263382	10263382	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10263382T>C	uc002gmk.1	-	6	630	c.540A>G	c.(538-540)gaA>gaG	p.E180E		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	180	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CAGCCCCGGATTCTCCGCTGC	0.483000														38			8		0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39082213	39082213	+	Silent	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:39082213A>G	uc002rrf.3	-	7	1990	c.1891T>C	c.(1891-1893)Tta>Cta	p.L631L	DHX57_uc002rrd.4_5'UTR|DHX57_uc002rre.3_Silent_p.L64L|DHX57_uc002rrg.3_Silent_p.L631L	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	631	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ACACTTTCTAACCGAATCTGG	0.448000														456			63		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76734938	76734938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:76734938G>A	uc003pik.1	-	4	665	c.535C>T	c.(535-537)Cct>Tct	p.P179S		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	179					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GTTTCACCAGGCTCTCCCAAT	0.343000														24			10		0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49928020	49928020	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:49928020C>T	uc003cxy.4	-	17	3972	c.3708G>A	c.(3706-3708)agG>agA	p.R1236R	MST1R_uc011bdc.2_Silent_p.R1187R	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	1236	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TATAGTACTCCCTGTCCAGGA	0.547000														26			8		0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12422909	12422909	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:12422909C>T	uc003bwx.3	+	2	490	c.399C>T	c.(397-399)tcC>tcT	p.S133S	PPARG_uc003bwr.3_Silent_p.S105S|PPARG_uc003bws.3_Silent_p.S105S|PPARG_uc003bwu.3_Silent_p.S105S|PPARG_uc003bwv.3_Silent_p.S105S|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc003bwt.1_Silent_p.S105S|PPARG_uc003bww.1_Silent_p.S133S	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	133					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CTTCCAACTCCCTCATGGCAA	0.423000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""							287			90		0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79616572	79616572	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:79616572G>A	uc011ctk.1	-	0		c.1087C>T			SPZ1_uc003kgn.3_Missense_Mutation_p.A180T			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TGTTAGTTTAGCCCCAGAGAA	0.383000														10			15		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11633061	11633061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:11633061G>A	uc021zzo.1	-	2	1343	c.1091C>T	c.(1090-1092)tCc>tTc	p.S364F	THSD7A_uc021zzn.1_Missense_Mutation_p.S364F	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	364	TSP type-1 3.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGACCACTCGGAAACCTGGCA	0.493000										HNSCC(18;0.044)				120			16		0	0	1	0	0
C15orf33	196951	broad.mit.edu	37	15	49860536	49860536	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:49860536C>T	uc001zxl.2	-	8	947	c.653G>A	c.(652-654)aGa>aAa	p.R218K	C15orf33_uc001zxm.3_Intron	NM_152647	NP_689860	Q96M60	CO033_HUMAN	Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA.	218										endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	25		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		TTGGTTTTCTCTGTCAGGCTT	0.313000														25			14		0	0	1	0	0
TPST2	8459	broad.mit.edu	37	22	26937305	26937305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:26937305C>T	uc003acw.3	-	2	633	c.292G>A	c.(292-294)Gag>Aag	p.E98K	TPST2_uc003acx.3_Missense_Mutation_p.E98K|TPST2_uc011akf.1_Missense_Mutation_p.E98K	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	98					peptidyl-tyrosine sulfation	Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						CGGGTCTCCTCGCCGCAGCGC	0.692000														17			10		0	0	1	0	0
PPME1	51400	broad.mit.edu	37	11	73950200	73950200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:73950200G>A	uc001ouw.3	+	8	832	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	PPME1_uc009yty.3_Missense_Mutation_p.E115K|PPME1_uc001oux.3_Missense_Mutation_p.E58K	NM_016147	NP_057231	Q9Y570	PPME1_HUMAN	Homo sapiens protein phosphatase methylesterase 1 (PPME1), mRNA.	245					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					TACAAGTCCAGAAGGCTCAAA	0.373000														28			4		0	0	1	0	0
PTK6	5753	broad.mit.edu	37	20	62161532	62161533	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:62161532_62161533GG>AA	uc002yfg.3	-	6	1106_1107	c.1066_1067CC>TT	c.(1066-1068)cct>TTt	p.P356F	PTK6_uc011aay.2_Missense_Mutation_p.P255F|PTK6_uc011aaz.1_Missense_Mutation_p.P118F	NM_005975	NP_005966	Q13882	PTK6_HUMAN	Homo sapiens PTK6 protein tyrosine kinase 6 (PTK6), transcript variant 1, mRNA.	356	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			GAGCGCTTCAGGGGCCGTCCAC	0.604000														93			10		0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151859387	151859387	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:151859387G>A	uc003qol.3	+	2	483	c.394G>A	c.(394-396)Gag>Aag	p.E132K		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	132																	TGCAATCAAGGAGAACCAGGA	0.358000														14			9		0	0	1	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139758	142139758	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142139758G>A	uc003vyt.3	-	0	58	c.13C>T	c.(13-15)Ctc>Ttc	p.L5F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CAGCATAGGAGACTGGTGCCC	0.537000														42			25		0	0	1	0	0
OR2L1P	26247	broad.mit.edu	37	1	248153976	248153976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248153976G>A	uc001idv.1	+	0	408	c.164G>A	c.(163-165)aGa>aAa	p.R55K	OR2L13_uc001ids.3_Intron					Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.											lung(11)	11						ATCCGTATGAGAAAAAGAGTG	0.463000														57			24		0	0	1	0	0
HLA-DQB1	3119	broad.mit.edu	37	6	32629236	32629236	+	Splice_Site	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:32629236T>G	uc021yvz.1	-	4	744	c.662_splice	c.e4-1	p.R221_splice	HLA-DQB1_uc010juc.2_Splice_Site_p.R176_splice|HLA-DQB1_uc003obw.3_Splice_Site_p.R221_splice|HLA-DQB1_uc011dqd.2_Intron	NM_001243961	NP_001230890	P01920	DQB1_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 1 (HLA-DQB1), transcript variant 2, mRNA.	221	Connecting peptide.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACTGAGCCCCTAAAGAGCAGA	0.542000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					8			9		0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36691047	36691047	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:36691047G>A	uc003apg.3	-	26	3792	c.3561C>T	c.(3559-3561)atC>atT	p.I1187I		NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	1187					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCATCTCCTGGATCTGGGCCT	0.622000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					117			52		0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5410717	5410717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5410717C>T	uc010qzc.2	+	0	111	c.89C>T	c.(88-90)cCt>cTt	p.P30L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	30						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAGCTTTCCTGGATTGGAA	0.413000														123			41		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1643106	1643106	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:1643106C>T	uc002qxa.3	-	19	4105	c.4041G>A	c.(4039-4041)ccG>ccA	p.P1347P		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	1347					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTTTCTTGGTCGGCTTGTCCT	0.542000														30			8		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791319	95791319	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:95791319C>T	uc001kjk.3	+	1	1150	c.516C>T	c.(514-516)atC>atT	p.I172I	PLCE1_uc010qnx.2_Silent_p.I172I	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	172					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGTCAGTGATCATAGAGACAG	0.438000														69			23		0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18230704	18230704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:18230704C>T	uc004cyj.4	-	3	627	c.473G>A	c.(472-474)gGa>gAa	p.G158E	BEND2_uc010nfb.2_Missense_Mutation_p.G158E	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	158										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ATAGAATCTTCCTCTTTTTGG	0.333000														28			21		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039377	31039377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:31039377G>A	uc002nsu.1	+	3	2989	c.2851G>A	c.(2851-2853)Gga>Aga	p.G951R	ZNF536_uc010edd.1_Missense_Mutation_p.G951R	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	951					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAAAGTCCACGGAGTGGATGG	0.532000														86			33		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	313401	313401	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrGL000192.1:313401C>T	uc010yij.1	-	5		c.845G>A			HYDIN_uc021vdl.1_Non-coding_Transcript	NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GATATTTCTTCCTTGGTCCAA	0.473000														137			17		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155241618	155241618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:155241618C>T	uc003inw.2	-	13	3568	c.3568G>A	c.(3568-3570)Gat>Aat	p.D1190N		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1190	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCGTCTGGATCGTGAGCAGTT	0.453000														122			72		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848847	166848847	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:166848847G>A	uc002udo.4	-	27	5165	c.4938C>T	c.(4936-4938)atC>atT	p.I1646I	SCN1A_uc010fpk.3_Silent_p.I1618I|SCN1A_uc021vsb.1_Silent_p.I1635I	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1646						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCAGACGTAGGATTCGGCCAA	0.478000														58			21		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156816274	156816274	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:156816274C>T	uc021ygm.1	+	28	3420	c.3282C>T	c.(3280-3282)atC>atT	p.I1094I	CYFIP2_uc011ddn.2_Silent_p.I1069I|CYFIP2_uc011ddo.2_Silent_p.I899I|CYFIP2_uc021ygn.1_Silent_p.I1094I|CYFIP2_uc021ygo.1_Silent_p.I1094I|CYFIP2_uc003lwt.3_Silent_p.I998I|CYFIP2_uc011ddp.2_Silent_p.I829I	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	1120					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCGAGGTCATCCTGACCCGCA	0.617000														253			76		0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10521693	10521693	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:10521693A>G	uc001min.1	+	10	1990	c.1645A>G	c.(1645-1647)Aag>Gag	p.K549E	AMPD3_uc010rbz.1_Missense_Mutation_p.K381E|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.K540E|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.K547E|AMPD3_uc009yfy.2_Missense_Mutation_p.K540E	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	540					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GTTTTCCGACAAGAGCCCAAA	0.567000														37			24		0	0	1	0	0
TACR1	6869	broad.mit.edu	37	2	75347738	75347738	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:75347738G>A	uc002sng.2	-	1	1131	c.546C>T	c.(544-546)atC>atT	p.I182I	TACR1_uc002snh.3_Silent_p.I182I	NM_001058	NP_001049	P25103	NK1R_HUMAN	Homo sapiens tachykinin receptor 1 (TACR1), transcript variant long, mRNA.	182					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	CTGGCCATTCGATCATGCACA	0.547000														107			27		0	0	1	0	0
TCP11L1	55346	broad.mit.edu	37	11	33080581	33080581	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:33080581A>G	uc001mud.3	+	5	1115	c.715A>G	c.(715-717)Atg>Gtg	p.M239V	TCP11L1_uc009yju.3_Missense_Mutation_p.M54V|TCP11L1_uc010rei.2_Missense_Mutation_p.M239V|TCP11L1_uc001mue.3_Missense_Mutation_p.M239V|TCP11L1_uc001muf.1_Non-coding_Transcript	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	Homo sapiens t-complex 11 (mouse)-like 1 (TCP11L1), transcript variant 1, mRNA.	239										kidney(1)|liver(2)|lung(2)|skin(1)	6						GCCTCATCTCATGCAGCAGTC	0.378000														46			34		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36896877	36896877	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:36896877C>T	uc003cgj.3	-	11	4452	c.4204G>A	c.(4204-4206)Gag>Aag	p.E1402K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1402					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.A1402T(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGCGCCAGCTCGGCCTGGGTA	0.557000														104			61		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30975938	30975938	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:30975938C>T	uc021vfn.1	-	8	1100	c.1068G>A	c.(1066-1068)gtG>gtA	p.V356V	CAPN13_uc021vfm.1_Silent_p.V356V|CAPN13_uc002rnp.1_Silent_p.V356V	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	356					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TTCCTAGAATCACTTGCTTCC	0.493000														386			61		0	0	1	0	0
WBP2NL	164684	broad.mit.edu	37	22	42415784	42415784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:42415784G>A	uc003bbt.3	+	2	384	c.290G>A	c.(289-291)gGa>gAa	p.G97E	WBP2NL_uc011apk.2_Intron|WBP2NL_uc003bbu.2_Non-coding_Transcript|WBP2NL_uc003bbv.1_Non-coding_Transcript	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN	Homo sapiens WBP2 N-terminal like (WBP2NL), mRNA.	97					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						TTCATTAAGGGAACTATTCAG	0.388000														108			33		0	0	1	0	0
C14orf49	161176	broad.mit.edu	37	14	95906269	95906269	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:95906269G>A	uc001yei.4	-	10	2070	c.2055C>T	c.(2053-2055)tcC>tcT	p.S685S	C14orf49_uc010avi.3_Silent_p.S685S	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	685					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding	p.S685F(1)		breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CGGCCTCTTGGGACTCGGCAT	0.627000														95			30		0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45808448	45808448	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:45808448T>C	uc002xsm.3	+	12	1575	c.1201T>C	c.(1201-1203)Ttg>Ctg	p.L401L	EYA2_uc010ghp.3_Intron|EYA2_uc002xsq.3_Silent_p.L371L	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	401					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GTCCACAGGGTTGATAGGCAC	0.502000														16			4		0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71021714	71021714	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:71021714C>T	uc003dol.3	-	13	1967	c.1644G>A	c.(1642-1644)aaG>aaA	p.K548K	FOXP1_uc003dom.3_Silent_p.K472K|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Silent_p.K548K|FOXP1_uc003doo.3_Silent_p.K547K|FOXP1_uc003dop.3_Silent_p.K548K|FOXP1_uc021xao.1_Intron|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.3_Silent_p.K448K|FOXP1_uc003dok.3_Silent_p.K474K|FOXP1_uc003doj.3_Silent_p.K550K|FOXP1_uc003dor.1_Silent_p.K325K	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	548					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	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(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		ACCCACTGATCTTTTGTGGCC	0.423000			T	PAX5	ALL									76			26		0	0	1	0	0
AX748210	0	broad.mit.edu	37	19	6008253	6008253	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:6008253G>A	uc002med.1	-	0	373	c.6C>T	c.(4-6)ttC>ttT	p.F2F	RFX2_uc002meb.3_Intron|RFX2_uc002mec.3_Intron					Homo sapiens cDNA FLJ36256 fis, clone THYMU2002356, weakly similar to DNA BINDING PROTEIN RFX2.																		AGGAACACGGGAACATCAGAA	0.627000														3			9		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32065665	32065665	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:32065665C>T	uc003nzl.2	-	1	513	c.311G>A	c.(310-312)aGg>aAg	p.R104K	TNXB_uc010jts.1_Missense_Mutation_p.R103K|ATF6B_uc003nzm.1_3'UTR	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	104					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TAGACGGACCCTCAGGGCCTG	0.617000														340			56		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975447	20975447	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:20975447G>A	uc010vbe.2	-	52	9759	c.9759C>T	c.(9757-9759)atC>atT	p.I3253I	DNAH3_uc010vbd.2_Silent_p.I688I	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3253	AAA 5 (By similarity).				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)		CATCCTCCAGGATGTTACCCT	0.433000														53			76		0	0	1	0	0
ZNF48	197407	broad.mit.edu	37	16	30409820	30409820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:30409820C>T	uc002dya.2	+	1	1625	c.1249C>T	c.(1249-1251)Ccc>Tcc	p.P417S	ZNF48_uc021tgi.1_Missense_Mutation_p.P417S|ZNF48_uc021tgj.1_Missense_Mutation_p.P294S|ZNF48_uc021tgk.1_Missense_Mutation_p.P417S	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	417	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						ACCTCGAAGTCCCTCACACTC	0.697000														20			9		0	0	1	0	0
LRRC34	151827	broad.mit.edu	37	3	169514631	169514631	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:169514631T>C	uc003ffy.3	-	7	1048	c.810A>G	c.(808-810)gcA>gcG	p.A270A	LRRC34_uc003ffx.3_Silent_p.A238A|LRRC34_uc003fga.4_Silent_p.A209A|LRRC34_uc021xhd.1_Silent_p.A270A	NM_001172779	NP_001166250	Q8IZ02	LRC34_HUMAN	Homo sapiens leucine rich repeat containing 34 (LRRC34), transcript variant 2, mRNA.	225										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			ACATGTGTAGTGCAACAAGAC	0.368000														14			34		0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36422171	36422171	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:36422171G>A	uc003cgh.1	+	0	75	c.36G>A	c.(34-36)gtG>gtA	p.V12V	STAC_uc010hgd.1_Non-coding_Transcript|STAC_uc011aya.1_Silent_p.V12V	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	12					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						AGGACGGCGTGGACGGGCTGC	0.701000														16			6		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182156	140182156	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140182156C>T	uc003lhf.2	+	0	1374	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.S458S	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	472	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCGCAGTCCGAGTACACGG	0.667000														111			41		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38917246	38917246	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:38917246G>A	uc021yzh.1	+	80	12257	c.12148G>A	c.(12148-12150)Ggg>Agg	p.G4050R	DNAH8_uc003ooe.2_Missense_Mutation_p.G3833R|DNAH8_uc003oog.1_Missense_Mutation_p.G282R|LOC100131047_uc003oof.2_Intron	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						TAATGAGAAGGGGTGGAAAAG	0.373000														153			26		0	0	1	0	0
UBE2J2	118424	broad.mit.edu	37	1	1203309	1203309	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:1203309G>A	uc001adp.3	-	1	253	c.64C>T	c.(64-66)Ctt>Ttt	p.L22F	UBE2J2_uc001adm.3_5'UTR|UBE2J2_uc001ado.3_Missense_Mutation_p.L22F|UBE2J2_uc001adq.3_5'UTR|UBE2J2_uc001adr.3_Intron	NM_058167	NP_919440	Q8N2K1	UB2J2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2, J2 (UBE2J2), transcript variant 2, mRNA.	22					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		TTAATGCGAAGGTAGTCCTGC	0.567000														25			226		0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60503447	60503447	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:60503447C>T	uc002ybn.2	+	11	2059	c.1971C>T	c.(1969-1971)gcC>gcT	p.A657A	CDH4_uc002ybr.2_Silent_p.A620A|CDH4_uc002ybp.2_Silent_p.A583A	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	657	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TCCCGGCGGCCGTGCGGAAGA	0.667000														100			30		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43508457	43508457	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:43508457C>T	uc002zag.1	+	4	657	c.657C>T	c.(655-657)gcC>gcT	p.A219A	UMODL1_uc002zad.1_Silent_p.A147A|UMODL1_uc002zae.1_Silent_p.A147A|UMODL1_uc002zaf.1_Silent_p.A219A|UMODL1_uc010gow.1_Silent_p.A11A|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Intron|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Silent_p.A11A	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	219						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCACTCAGCCCCTGGGAACG	0.642000														14			14		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183714115	183714115	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:183714115C>T	uc003ivd.1	+	24	6365	c.6290C>T	c.(6289-6291)tCg>tTg	p.S2097L		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2097					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ATATTCAGGTCGCTCATGTAC	0.393000														21			10		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	15967636	15967636	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:15967636G>A	uc010lsu.3	-	9	1432	c.1368C>T	c.(1366-1368)gcC>gcT	p.A456A	MSR1_uc003wwz.3_Silent_p.A438A|MSR1_uc003wxa.3_Silent_p.A375A	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	438					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AATGTGAACAGGCTCTTGTCC	0.368000														60			12		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140235929	140235929	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140235929T>C	uc003lhx.2	+	0	296	c.296T>C	c.(295-297)gTg>gCg	p.V99A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.V99A|PCDHAC2_uc011dad.2_Missense_Mutation_p.V99A	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	115	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGGAGCGTGGAGTGCAGC	0.562000														62			6		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234444858	234444858	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:234444858G>A	uc001hvy.1	+	3	765	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	SLC35F3_uc001hwa.1_Missense_Mutation_p.R138Q	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	138					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GAATGCTGTCGATTTTTTGGA	0.383000														87			12		0	0	1	0	0
OR3A2	4995	broad.mit.edu	37	17	3181683	3181683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:3181683C>T	uc002fvg.3	-	0	586	c.547G>A	c.(547-549)Gtc>Atc	p.V183I		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	183					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						AAGTGATTGACCTCATTGGGG	0.562000														104			18		0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33510724	33510724	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:33510724C>T	uc001iwx.4	-	7	1728	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q	NRP1_uc001iwv.4_Missense_Mutation_p.R402Q|NRP1_uc001iwy.4_Missense_Mutation_p.R402Q|NRP1_uc009xlz.3_Missense_Mutation_p.R402Q|NRP1_uc001iww.4_Missense_Mutation_p.R221Q|NRP1_uc001iwz.2_Missense_Mutation_p.R402Q|NRP1_uc001ixa.2_Missense_Mutation_p.R402Q|NRP1_uc001ixb.2_Missense_Mutation_p.R402Q|NRP1_uc001ixc.1_Missense_Mutation_p.R402Q	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	402	F5/8 type C 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TCGGACAAATCGAGTTATCAG	0.433000														53			63		0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52475896	52475896	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:52475896C>T	uc003dea.1	-	4	489	c.489G>A	c.(487-489)gtG>gtA	p.V163V		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	163	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)		GGCCACTTTCCACACTGCCAG	0.662000														4			4		0	0	1	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145722799	145722799	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:145722799C>T	uc003zdd.3	+	1	1135	c.222C>T	c.(220-222)gtC>gtT	p.V74V	AK094577_uc003zde.1_Silent_p.R105R|PPP1R16A_uc003zdf.3_Silent_p.V74V	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16A (PPP1R16A), mRNA.	74						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCAGTGTTGTCCTTCTGGAGG	0.652000														24			9		0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72916232	72916232	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:72916232G>A	uc002jme.1	-	1	882	c.699C>T	c.(697-699)gtC>gtT	p.V233V	USH1G_uc010wro.1_Silent_p.V130V	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	233					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CATCCTCGGAGACCTTGAAGG	0.667000														75			11		0	0	1	0	0
PDP1	54704	broad.mit.edu	37	8	94934858	94934858	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:94934858C>T	uc011lgn.2	+	1	797	c.748C>T	c.(748-750)Cag>Tag	p.Q250*	PDP1_uc003ygf.3_Nonsense_Mutation_p.Q216*|PDP1_uc003yge.3_Nonsense_Mutation_p.Q191*|PDP1_uc010max.3_Nonsense_Mutation_p.Q216*|PDP1_uc011lgm.2_Nonsense_Mutation_p.Q191*|PDP1_uc022ayg.1_Nonsense_Mutation_p.Q191*	NM_001161778	NP_001155250	Q9P0J1	PDP1_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	191					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						ACCCATTCTCCAGTGGCACAA	0.443000														17			39		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961097	73961097	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:73961097G>A	uc004eby.3	-	2	3912	c.3295C>T	c.(3295-3297)Caa>Taa	p.Q1099*		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1099					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ACACCCTCTTGGAACCCCTTT	0.483000														29			28		0	0	1	0	0
STX16	8675	broad.mit.edu	37	20	57245658	57245658	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:57245658G>A	uc002xzi.3	+	6	1402	c.648_splice	c.e6+1	p.R216_splice	STX16_uc021wfi.1_Splice_Site_p.R163_splice|STX16_uc002xzk.3_Splice_Site_p.R199_splice|STX16_uc010zzq.2_Splice_Site_p.R30_splice|STX16_uc002xzl.3_Splice_Site_p.R30_splice|STX16_uc002xzm.3_Splice_Site_p.R212_splice|STX16_uc002xzj.3_Splice_Site_p.R195_splice|STX16_uc021wfj.1_Splice_Site_p.R30_splice	NM_001001433	NP_001191797	O14662	STX16_HUMAN	Homo sapiens syntaxin 16 (STX16), transcript variant 1, mRNA.	216					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|SNARE complex|integral to membrane|microsome	SNAP receptor activity			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			CTTTACCATCGGGTACGTGAA	0.473000														90			30		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33592344	33592344	+	Silent	SNP	G	A	A	rs151171356		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:33592344G>A	uc001rll.1	-	0	411	c.114C>T	c.(112-114)ttC>ttT	p.F38F	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	38						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.F38F(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TGTCCCGAGGGAAGATGCCCG	0.677000														75			63		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808551	8808551	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:8808551G>A	uc002mkl.2	-	0	622	c.501C>T	c.(499-501)ttC>ttT	p.F167F		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	167						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GCAGCGACTCGAAGGCCACCT	0.672000														22			35		0	0	1	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18736667	18736667	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:18736667G>A	uc010exr.3	-	8	1855	c.1743C>T	c.(1741-1743)ctC>ctT	p.L581L	NT5C1B-RDH14_uc002rcy.3_3'UTR|NT5C1B-RDH14_uc002rcx.4_Silent_p.L267L	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	0					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										CCAAATTGAAGAGTGGTTTGA	0.458000														189			37		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435393	158435393	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:158435393C>T	uc010pij.2	+	0	42	c.42C>T	c.(40-42)gtC>gtT	p.V14V		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V13V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					AGTTCGTCGTCCTCGGCTTCT	0.507000														56			36		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415882	57415882	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:57415882C>T	uc021wfl.1	+	0	1088	c.721C>T	c.(721-723)Ccc>Tcc	p.P241S	GNAS-AS1_uc002xzs.2_Intron|GNAS_uc002xzt.3_5'UTR|GNAS_uc021wfm.1_Missense_Mutation_p.P241S|GNAS_uc010gjq.3_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 4, mRNA.	0					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			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)			GGGACCCATCCCCATCCGGCG	0.612000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				41			4		0	0	1	0	0
NPAS1	4861	broad.mit.edu	37	19	47548453	47548453	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:47548453G>A	uc002pfw.3	+	11	1513	c.1317G>A	c.(1315-1317)ccG>ccA	p.P439P	NPAS1_uc002pfy.3_Silent_p.P439P|NPAS1_uc010xyj.2_3'UTR	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	Homo sapiens neuronal PAS domain protein 1 (NPAS1), mRNA.	439					central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		TTCCAGAGCCGGAGCCTCCGA	0.632000														13			7		0	0	1	0	0
KIN	22944	broad.mit.edu	37	10	7829871	7829871	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:7829871G>A	uc001ijt.3	-	0	120	c.26C>T	c.(25-27)cCc>cTc	p.P9L	KIN_uc010qaz.2_Non-coding_Transcript|KIN_uc010qba.2_5'UTR|ATP5C1_uc010qbb.2_5'Flank|ATP5C1_uc009xiq.1_5'Flank|ATP5C1_uc010qbc.1_5'Flank|ATP5C1_uc001iju.3_5'Flank|ATP5C1_uc001ijv.3_5'Flank	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	9					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						GATAGCCTTGGGAGTAAGAAA	0.612000														76			54		0	0	1	0	0
KRT12	3859	broad.mit.edu	37	17	39019850	39019850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:39019850G>A	uc002hvk.2	-	4	1006	c.982C>T	c.(982-984)Cgt>Tgt	p.R328C		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	328	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				ATCTCCTTACGGAGCTCCCCG	0.567000														57			24		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126542724	126542724	+	Missense_Mutation	SNP	C	T	T	rs13309334	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:126542724C>T	uc003vlr.2	-	4	1339	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.R343Q|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.R64Q	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	343			R -> Q (in dbSNP:rs13309334).		negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.R343Q(3)|p.R343*(1)|p.R343G(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCTAAAGTATCGATCAAATCC	0.348000										HNSCC(24;0.065)				20			11		0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150390043	150390043	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:150390043G>A	uc003who.3	+	2	757	c.669G>A	c.(667-669)caG>caA	p.Q223Q		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	223						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCTAATACAGAGGTCTAAAT	0.403000														34			16		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163374308	163374308	+	Missense_Mutation	SNP	G	A	A	rs139430414		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:163374308G>A	uc002uch.2	-	3	1053	c.824C>T	c.(823-825)tCg>tTg	p.S275L	KCNH7_uc002uci.3_Missense_Mutation_p.S275L	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	275					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATCATGGACCGAAGATGCTCT	0.453000														29			13		0	0	1	0	0
FAM46B	115572	broad.mit.edu	37	1	27333251	27333251	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:27333251G>A	uc010ofj.2	-	1	634	c.462C>T	c.(460-462)ttC>ttT	p.F154F	BC016143_uc021ojq.1_Intron	NM_052943	NP_443175	Q96A09	FA46B_HUMAN	Homo sapiens family with sequence similarity 46, member B (FAM46B), mRNA.	154										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		CGGCCGGCAGGAAGTCTAGTA	0.612000														6			80		0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75438510	75438510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:75438510C>T	uc010rru.2	+	2	301	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	MOGAT2_uc001oww.1_Missense_Mutation_p.R101W|MOGAT2_uc010rrv.2_Missense_Mutation_p.R19W	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA.	101					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	p.R101R(2)		NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GGACCCCTCTCGGAACTACAT	0.627000														20			17		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43504285	43504285	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:43504285C>T	uc002zag.1	+	2	411	c.411C>T	c.(409-411)atC>atT	p.I137I	UMODL1_uc002zad.1_Silent_p.I65I|UMODL1_uc002zae.1_Silent_p.I65I|UMODL1_uc002zaf.1_Silent_p.I137I|UMODL1_uc010gow.1_5'Flank|UMODL1_uc002zai.1_5'Flank|UMODL1_uc010gox.1_5'Flank|UMODL1_uc010goy.1_5'Flank|UMODL1_uc002zaj.1_5'Flank|UMODL1_uc010goz.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	137	WAP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GCTTGGACATCGACTGTCCTG	0.642000														116			30		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16891403	16891403	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:16891403C>T	uc009vos.1	-	28	3963	c.3075_splice	c.e28+1	p.K1025_splice	AB1_uc001ayw.3_5'Flank	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	1025	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ccttccccttcttTTCAATTT	0.443000														475			14		0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921025	247921025	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:247921025G>A	uc010pza.2	-	0	684	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GAGTAGAGGTGATCTTCAGAA	0.493000														24			36		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26736439	26736439	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:26736439G>A	uc003acb.3	+	9	2249	c.2053G>A	c.(2053-2055)Gat>Aat	p.D685N	SEZ6L_uc003acd.3_Missense_Mutation_p.D685N|SEZ6L_uc011akd.2_Missense_Mutation_p.D685N|SEZ6L_uc003ace.3_Missense_Mutation_p.D685N|SEZ6L_uc011akc.2_Missense_Mutation_p.D685N|SEZ6L_uc003acc.3_Missense_Mutation_p.D685N|SEZ6L_uc003acf.1_Missense_Mutation_p.D458N|SEZ6L_uc010gvc.1_Missense_Mutation_p.D458N	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	685	CUB 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GACCATCTACGATGGCGACGA	0.517000														65			121		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28983586	28983586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:28983586G>A	uc002kwr.2	+	10	1760	c.1625G>A	c.(1624-1626)aGa>aAa	p.R542K	DSG4_uc002kwq.2_Missense_Mutation_p.R542K	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	542					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGGGATGTCAGATCAACAAAT	0.368000														24			10		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128176322	128176322	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:128176322C>T	uc011ebt.2	-	1	252	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	THEMIS_uc010kfa.3_5'UTR|THEMIS_uc021zfa.1_Missense_Mutation_p.E35K|THEMIS_uc010kfb.3_5'UTR	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	35	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CCAAACATTTCATAAATAGAG	0.284000														9			6		0	0	1	0	0
C9orf171	389799	broad.mit.edu	37	9	135374956	135374956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:135374956C>T	uc004cbn.3	+	3	649	c.601C>T	c.(601-603)Cct>Tct	p.P201S	C9orf171_uc004cbo.3_Missense_Mutation_p.P165S	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	201										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GCCCCCTCTCCCTCCAAACAT	0.597000														19			20		0	0	1	0	0
SLC18A1	6570	broad.mit.edu	37	8	20038433	20038433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:20038433C>T	uc011kyq.2	-	2	514	c.43G>A	c.(43-45)Gag>Aag	p.E15K	SLC18A1_uc003wzm.3_Missense_Mutation_p.E15K|SLC18A1_uc011kyr.2_Missense_Mutation_p.E15K|SLC18A1_uc003wzn.3_Missense_Mutation_p.E15K|SLC18A1_uc010ltf.3_Non-coding_Transcript	NM_001135691	NP_003044	P54219	VMAT1_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.	15					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		GCTCTCCCCTCCTTCAGCAAC	0.602000														12			5		0	0	1	0	0
FAM45A	404636	broad.mit.edu	37	X	129629405	129629405	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:129629405C>T	uc010nrh.3	+	0	491	c.273C>T	c.(271-273)gtC>gtT	p.V91V	BC043223_uc004evu.3_Intron	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA.	91										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		TTTCTATTGTCCTGACCGCCA	0.378000														44			31		0	0	1	0	0
FCGR2A	2212	broad.mit.edu	37	1	161479651	161479651	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:161479651G>A	uc001gan.3	+	3	459	c.406G>A	c.(406-408)Gga>Aga	p.G136R	FCGR2A_uc001gam.3_Missense_Mutation_p.G135R|FCGR2A_uc021pcz.1_Non-coding_Transcript|FCGR2A_uc021pda.1_Non-coding_Transcript	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIa, receptor (CD32) (FCGR2A), transcript variant 1, mRNA.	136	Ig-like C2-type 2.					integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTTCCAGGAGGGAGAAACCAT	0.463000														64			70		0	0	1	0	0
GSTM2P1	442245	broad.mit.edu	37	6	111368161	111368161	+	Silent	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:111368161A>G	uc003puq.3	-	0	597	c.462T>C	c.(460-462)ttT>ttC	p.F154F						Homo sapiens glutathione S-transferase mu 2 (muscle) pseudogene 1 (GSTM2P1), non-coding RNA.																		CCAAGCCCTCAAATCGGGAGA	0.498000														17			13		0	0	1	0	0
TMED6	146456	broad.mit.edu	37	16	69385549	69385549	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:69385549G>A	uc002exc.2	-	0	164	c.108C>T	c.(106-108)ttC>ttT	p.F36F		NM_144676	NP_653277	Q8WW62	TMED6_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 6 (TMED6), mRNA.	36					transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						CAGCTCCACGGAAGAGTGGCT	0.517000														34			13		0	0	1	0	0
CDKAL1	54901	broad.mit.edu	37	6	20739777	20739777	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:20739777C>T	uc003ndd.2	+	5	566	c.399C>T	c.(397-399)atC>atT	p.I133I	CDKAL1_uc003nde.2_Silent_p.I63I|CDKAL1_uc021ymk.1_Silent_p.I133I	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA.	133	MTTase N-terminal.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			ACAAGAAAATCGTACTGGCTG	0.433000														190			85		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765125	77765125	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:77765125G>A	uc003yau.2	+	9	6355	c.5968G>A	c.(5968-5970)Gac>Aac	p.D1990N	ZFHX4_uc003yaw.1_Missense_Mutation_p.D1945N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1945	Pro-rich.					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)			GGAGGCCTATGACAAGCTTTA	0.483000										HNSCC(33;0.089)				17			7		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534801	92534801	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:92534801G>A	uc001pdj.4	+	8	8639	c.8622G>A	c.(8620-8622)tgG>tgA	p.W2874*		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2874	Cadherin 26.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.W2874C(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACACGGGCTGGATCAGTACCT	0.527000										TCGA Ovarian(4;0.039)				369			103		0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651774	96651774	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:96651774T>A	uc003pop.4	+	2	1084	c.743T>A	c.(742-744)aTc>aAc	p.I248N	FUT9_uc021zcw.1_Missense_Mutation_p.I248N	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	248					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.S247A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GAAAATTCAATCCACAAGGAT	0.353000														7			8		0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74874637	74874637	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:74874637G>A	uc001xpx.2	-	2	721	c.473C>T	c.(472-474)cCc>cTc	p.P158L		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	Homo sapiens synapse differentiation inducing 1-like (SYNDIG1L), mRNA.	158					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						GTGGTCCCTGGGAGGCAGCGT	0.572000														19			20		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70944612	70944612	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:70944612C>T	uc003pfg.4	-	33	2303	c.2144G>A	c.(2143-2145)gGg>gAg	p.G715E	COL9A1_uc003pfe.4_Missense_Mutation_p.G264E|COL9A1_uc003pff.4_Missense_Mutation_p.G472E	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	715	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						TCCCTCAGGCCCTCTCAAGCC	0.572000														33			9		0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24690159	24690159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:24690159G>A	uc003swx.3	+	5	778	c.479G>A	c.(478-480)gGg>gAg	p.G160E	MPP6_uc003swy.3_Missense_Mutation_p.G160E	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	160	PDZ.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ATCCTCCATGGGGGAATGATA	0.353000														62			29		0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941255	13941255	+	Silent	SNP	G	A	A	rs138305620	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:13941255G>A	uc002mxh.1	+	12	2550	c.2361G>A	c.(2359-2361)gcG>gcA	p.A787A	ZSWIM4_uc010xng.1_Silent_p.A710A	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	787							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCTTCGAGGCGGCCTACCAGA	0.706000														65			41		0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6190745	6190745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:6190745G>A	uc010qzy.2	-	0	812	c.812C>T	c.(811-813)cCt>cTt	p.P271L		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACATGTTGAGGAATATTACG	0.458000														27			28		0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32972405	32972405	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:32972405C>T	uc001uub.1	+	26	9982	c.9755C>T	c.(9754-9756)tCt>tTt	p.S3252F		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	3252					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ACTTCAAAGTCTTGTAAAGGG	0.413000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				67			32		0	0	1	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149386	142149386	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142149386G>A	uc010lnw.1	-	0	89	c.7C>T	c.(7-9)Cct>Tct	p.P3S	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV5-5_uc022anh.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AGGAGCCCAGGGCCCATGGCA	0.602000														40			4		0	0	1	0	0
OAS1	4938	broad.mit.edu	37	12	113344996	113344996	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:113344996A>G	uc001tuc.3	+	0	258	c.152A>G	c.(151-153)tAc>tGc	p.Y51C	OAS1_uc010syn.2_Missense_Mutation_p.Y50C|OAS1_uc010syo.2_Missense_Mutation_p.Y50C|OAS1_uc001tub.3_Missense_Mutation_p.Y51C|OAS1_uc001tud.3_Missense_Mutation_p.Y51C|OAS1_uc009zwf.3_Missense_Mutation_p.Y50C	NM_001032409	NP_001027581	P00973	OAS1_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA.	51					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GGTAGCTCCTACCCTGTGTGT	0.527000														52			39		0	0	1	0	0
KANSL3	55683	broad.mit.edu	37	2	97276607	97276607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:97276607G>A	uc002swn.4	-	10	1321	c.1175C>T	c.(1174-1176)cCc>cTc	p.P392L	KANSL3_uc002swh.4_Missense_Mutation_p.P280L|KANSL3_uc002swi.4_Missense_Mutation_p.P293L|KANSL3_uc002swj.4_Non-coding_Transcript|KANSL3_uc002swk.4_Missense_Mutation_p.P305L|KANSL3_uc010fhz.3_Missense_Mutation_p.P186L|KANSL3_uc002swl.4_Missense_Mutation_p.P293L|KANSL3_uc002swm.4_Non-coding_Transcript|KANSL3_uc010yur.2_Missense_Mutation_p.P186L|KANSL3_uc002swp.1_Missense_Mutation_p.P293L|KANSL3_uc002swq.1_Missense_Mutation_p.P164L|KANSL3_uc010fhy.1_Missense_Mutation_p.P293L	NM_001115016	NP_060461	Q9P2N6	K1310_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 3 (KANSL3), transcript variant 1, mRNA.	392																	ATCCAAGAGGGGATCATCTAC	0.458000														130			28		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2044139	2044139	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:2044139C>T	uc003wpx.4	+	17	2316	c.2178C>T	c.(2176-2178)tcC>tcT	p.S726S	MYOM2_uc011kwi.2_Silent_p.S151S	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	726	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACGGCCACTCCATGACCCTCG	0.587000														62			68		0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795358	142795358	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:142795358C>T	uc004fbz.3	-	1	1074	c.320G>A	c.(319-321)gGa>gAa	p.G107E		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	107										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGAAGATCCTTCAGATGA	0.527000														289			13		0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70333188	70333188	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:70333188C>T	uc001jok.4	+	1	1598	c.1093C>T	c.(1093-1095)Cta>Tta	p.L365L		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	365					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CACCTCTTTCCTAGGACAGGC	0.517000														105			40		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635652	33635652	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:33635652C>T	uc001uus.3	+	3	2444	c.2436C>T	c.(2434-2436)atC>atT	p.I812I	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	812	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ATACCACCATCCTTGTAGACT	0.388000														28			13		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45861608	45861608	+	Nonsense_Mutation	SNP	C	T	T	rs138426423		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:45861608C>T	uc010gpt.1	+	32	4670	c.4570C>T	c.(4570-4572)Cga>Tga	p.R1524*	TRPM2_uc002zet.1_Nonsense_Mutation_p.R1474*|TRPM2_uc002zeu.1_Nonsense_Mutation_p.R1474*|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Nonsense_Mutation_p.R1474*|TRPM2_uc002zex.1_Nonsense_Mutation_p.R1260*|TRPM2_uc002zey.1_Nonsense_Mutation_p.R953*|TRPM2_uc011aff.1_Nonsense_Mutation_p.R155*	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1474						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGCCTCCATCCGATGGCAGGT	0.652000														23			14		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228525032	228525032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:228525032C>T	uc009xez.1	+	65	16792	c.16748C>T	c.(16747-16749)tCc>tTc	p.S5583F	OBSCN_uc001hsn.3_Missense_Mutation_p.S5583F|OBSCN_uc001hsr.1_Missense_Mutation_p.S211F	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5583					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGCCATCCTCCAGCATCCAG	0.662000														6			10		0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153779	5153779	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5153779G>A	uc010qyx.2	-	0	94	c.94C>T	c.(94-96)Cct>Tct	p.P32S		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCAGAGAAAGGAATCCCAATC	0.388000														41			11		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882884	228882884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:228882884C>T	uc002vpq.2	-	6	2733	c.2686G>A	c.(2686-2688)Gaa>Aaa	p.E896K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E896K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E896K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	896						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)		ACTTGAACTTCGTTGATGCGA	0.502000														62			34		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121819	38121819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:38121819C>T	uc003atr.3	+	6	3527	c.3256C>T	c.(3256-3258)Ccc>Tcc	p.P1086S	TRIOBP_uc003atu.3_Missense_Mutation_p.P914S|TRIOBP_uc003atq.1_Missense_Mutation_p.P1086S|TRIOBP_uc003ats.1_Missense_Mutation_p.P914S	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1086					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGACCCCTTCCCCTTCCTCCC	0.622000														30			48		0	0	1	0	0
UCMA	221044	broad.mit.edu	37	10	13271644	13271644	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:13271644C>T	uc001imd.3	-	3	356	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K		NM_145314	NP_660357	Q8WVF2	UCMA_HUMAN	Homo sapiens upper zone of growth plate and cartilage matrix associated (UCMA), mRNA.	96						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						TTCTCAAATTCATTCCTTTGT	0.468000														64			42		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225483	21225483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:21225483C>T	uc002red.3	-	28	12939	c.12811G>A	c.(12811-12813)Gaa>Aaa	p.E4271K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4271					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.R4270G(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCAACAGTTCCCTATACATC	0.368000														190			509		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56226516	56226516	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56226516G>A	uc002qly.3	-	5	2434	c.2406C>T	c.(2404-2406)tcC>tcT	p.S802S		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	802						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GATCGAGGAGGGACAGGGACT	0.547000														52			15		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73066499	73066499	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:73066499G>A	uc004ebm.1	-	0		c.6090C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CTGCTGGAAGGGAAAAGTGGG	0.473000														28			19		0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141978	29141978	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29141978C>T	uc011dlm.2	+	0	668	c.566C>T	c.(565-567)tCa>tTa	p.S189L		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CTGCGTTTATCATGTGTTGAC	0.453000														187			37		0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486746	125486746	+	Missense_Mutation	SNP	C	T	T	rs149512495		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:125486746C>T	uc004bmu.1	+	0	478	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TTCCCTGTTCCGCGTGCTACT	0.483000														21			94		0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119031635	119031635	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:119031635G>A	uc001pvs.3	+	14	2096	c.1760G>A	c.(1759-1761)cGa>cAa	p.R587Q	ABCG4_uc009zar.3_Missense_Mutation_p.R587Q	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	587	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGCATGGAGCGAGGAGACCTG	0.567000														1			12		0	0	1	0	0
PDLIM1	9124	broad.mit.edu	37	10	96998373	96998373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:96998373C>T	uc001kkh.3	-	5	864	c.755G>A	c.(754-756)gGa>gAa	p.G252E		NM_020992	NP_066272	O00151	PDLI1_HUMAN	Homo sapiens PDZ and LIM domain 1 (PDLIM1), mRNA.	252					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CTGAGCATTTCCAATCGACGC	0.493000														37			14		0	0	1	0	0
RPSA	3921	broad.mit.edu	37	3	39452312	39452312	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:39452312C>G	uc003cjq.3	+	3	420	c.335C>G	c.(334-336)aCc>aGc	p.T112S	RPSA_uc003cjp.3_Missense_Mutation_p.T107S|SNORA62_uc010hhs.3_5'Flank	NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	107	Interaction with PPP1R16B.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		ACTCCTGGAACCTTCACTAAC	0.537000														32			12		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97136260	97136260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:97136260C>T	uc021rcc.1	+	18	2468	c.2390C>T	c.(2389-2391)tCc>tTc	p.S797F				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	797										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GATCCTATTTCCCTAAATGCC	0.368000														6			7		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76751656	76751656	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:76751656G>A	uc003pik.1	-	1	385	c.255C>T	c.(253-255)tcC>tcT	p.S85S		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	85					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCTGTTTCATGGATTCCTGTG	0.388000														22			14		0	0	1	0	0
SYT11	23208	broad.mit.edu	37	1	155837856	155837856	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155837856G>A	uc001fmg.3	+	1	428	c.135G>A	c.(133-135)gaG>gaA	p.E45E	SYT11_uc010pgq.2_Intron	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	Homo sapiens synaptotagmin XI (SYT11), mRNA.	45						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			AGCAGGCAGAGAAGAAGCAGA	0.527000														40			64		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582895	55582895	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:55582895C>T	uc010qhy.1	-	34	5007	c.4612G>A	c.(4612-4614)Gaa>Aaa	p.E1538K	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.E1533K|PCDH15_uc021pqz.1_Missense_Mutation_p.E1508K|PCDH15_uc010qhv.1_Missense_Mutation_p.E1528K|PCDH15_uc010qhw.1_Missense_Mutation_p.E1491K|PCDH15_uc010qhx.1_Missense_Mutation_p.E1462K|PCDH15_uc010qhz.1_Missense_Mutation_p.E1533K|PCDH15_uc010qia.1_Missense_Mutation_p.E1511K|PCDH15_uc001jju.1_Missense_Mutation_p.E1531K|PCDH15_uc010qib.1_Missense_Mutation_p.E1508K	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1531					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	p.E1531*(1)|p.K1530_E1531>N*(1)		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)				CTTATGTTTTCCTTATAAAGG	0.368000										HNSCC(58;0.16)				35			48		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922658	24922658	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:24922658G>A	uc001ywo.3	+	0	2118	c.1644G>A	c.(1642-1644)atG>atA	p.M548I		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	548					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GCAAGCCTATGAATTCCACGT	0.493000														122			56		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140772560	140772560	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140772560G>A	uc003lkd.2	+	0	1078	c.180G>A	c.(178-180)gcG>gcA	p.A60A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Silent_p.A60A|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	60	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGCTGGCGAAGCACGGAG	0.612000														38			9		0	0	1	0	0
TTC22	55001	broad.mit.edu	37	1	55266809	55266809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:55266809C>T	uc009vzt.1	-	0	133	c.28G>A	c.(28-30)Gat>Aat	p.D10N	TTC22_uc001cxz.4_Missense_Mutation_p.D10N	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN	Homo sapiens tetratricopeptide repeat domain 22 (TTC22), transcript variant 1, mRNA.	10							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						GCGTCTAGATCGTCGGCCACA	0.672000														12			7		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349491	100349491	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:100349491A>C	uc003uwj.3	+	13	1928	c.1763A>C	c.(1762-1764)aAa>aCa	p.K588T	ZAN_uc003uwk.3_Missense_Mutation_p.K588T|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	588	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.K588E(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGTCCCCAAAGAAAAGCCC	0.468000														29			21		0	0	1	0	0
C10orf81	79949	broad.mit.edu	37	10	115526241	115526241	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:115526241C>T	uc001lat.2	+	1	644	c.82C>T	c.(82-84)Cag>Tag	p.Q28*	C10orf81_uc009xyc.2_5'UTR|C10orf81_uc001lar.2_Nonsense_Mutation_p.Q34*|C10orf81_uc001las.2_Intron	NM_182601	NP_872407	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA.	28	PH.									central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		ACCACCTTCTCAGCTGTTCTC	0.338000														38			20		0	0	1	0	0
RAB40C	57799	broad.mit.edu	37	16	677524	677525	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:677524_677525GG>AA	uc021szt.1	+	6	970_971	c.748_749GG>AA	c.(748-750)ggc>AAc	p.G250N	RAB40C_uc021szu.1_Missense_Mutation_p.G250N|RAB40C_uc021szv.1_Missense_Mutation_p.G250N|RAB40C_uc002chq.3_Missense_Mutation_p.G231N|RAB40C_uc002chr.3_Missense_Mutation_p.G250N|AK128777_uc002chs.1_5'Flank	NM_001172663	NP_066991	Q96S21	RB40C_HUMAN	Homo sapiens RAB40C, member RAS oncogene family (RAB40C), transcript variant 1, mRNA.	250					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				GGCCGGGGGCGGCGGCAGCAAG	0.644000														32			26		0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30863263	30863263	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:30863263C>T	uc003nrv.3	+	10	1638	c.1596C>T	c.(1594-1596)ccC>ccT	p.P532P	DDR1_uc010jse.3_Intron|DDR1_uc003nrq.3_Intron|DDR1_uc003nrr.3_Silent_p.P532P|DDR1_uc003nrs.3_Silent_p.P532P|DDR1_uc003nrt.3_Intron|DDR1_uc011dms.2_Intron|DDR1_uc003nru.3_Intron|DDR1_uc003nry.2_Intron|DDR1_uc003nrx.2_Intron|DDR1_uc003nrw.1_Missense_Mutation_p.P304L	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	532	Gly/Pro-rich.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCCCCACACCCGCCTGGGCCA	0.682000														119			24		0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42190984	42190984	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:42190984C>T	uc002ori.1	-	1	235	c.233G>A	c.(232-234)cGa>cAa	p.R78Q	CEACAM7_uc010ehx.2_Missense_Mutation_p.R78Q|CEACAM7_uc010ehy.1_Missense_Mutation_p.R78Q	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	78	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane		p.R78Q(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TCCTATAATTCGATAGTTGGC	0.463000														156			45		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32974395	32974395	+	Silent	SNP	G	A	A	rs138495471		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:32974395G>A	uc001rlj.4	-	9	2155	c.2040C>T	c.(2038-2040)tcC>tcT	p.S680S	PKP2_uc001rlk.4_Silent_p.S636S|PKP2_uc010skj.2_Silent_p.S633S	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	680					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TTATAACAATGGAATGCCACA	0.507000														45			19		0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43262257	43262257	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:43262257G>A	uc002ouo.2	-	2	704	c.606C>T	c.(604-606)ctC>ctT	p.L202L	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Silent_p.L202L|PSG8_uc010ein.3_Silent_p.L80L|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	202	Ig-like C2-type 1.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CCAATAGAAAGAGGGTCCTGT	0.522000														294			76		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51902129	51902129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:51902129G>A	uc002iua.2	+	0	1891	c.1735G>A	c.(1735-1737)Gat>Aat	p.D579N	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	579					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.D579E(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						CCTTCAGAGGGATGAATTTAT	0.418000														74			37		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55943267	55943267	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:55943267G>A	uc010qhy.1	-	13	1937	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F	PCDH15_uc010qhq.2_Silent_p.F514F|PCDH15_uc010qhr.2_Silent_p.F509F|PCDH15_uc021pqv.1_Silent_p.F509F|PCDH15_uc021pqw.1_Silent_p.F521F|PCDH15_uc010qht.2_Silent_p.F516F|PCDH15_uc021pqx.1_Silent_p.F509F|PCDH15_uc001jjv.1_Silent_p.F487F|PCDH15_uc021pqy.1_Silent_p.F509F|PCDH15_uc021pqz.1_Silent_p.F487F|PCDH15_uc010qhv.1_Silent_p.F509F|PCDH15_uc010qhw.1_Silent_p.F472F|PCDH15_uc010qhx.1_Silent_p.F509F|PCDH15_uc010qhz.1_Silent_p.F509F|PCDH15_uc010qia.1_Silent_p.F487F|PCDH15_uc001jju.1_Silent_p.F509F|PCDH15_uc010qib.1_Silent_p.F487F|PCDH15_uc001jjw.3_Silent_p.F509F	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	509	Cadherin 5.				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)				ATATTTCAGGGAAGGTTGGCG	0.398000										HNSCC(58;0.16)				48			27		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68940239	68940239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:68940239C>T	uc009xpn.1	-	6	1006	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	CTNNA3_uc001jmw.2_Missense_Mutation_p.E295K|CTNNA3_uc001jmx.4_Missense_Mutation_p.E295K|CTNNA3_uc009xpo.1_Missense_Mutation_p.E155K|CTNNA3_uc001jna.2_Missense_Mutation_p.E307K	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	295					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GGTCGTATTTCCTCCTCAGTT	0.438000														32			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179396239	179396239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179396239C>T	uc021vsy.1	-	306	97624	c.97399G>A	c.(97399-97401)Gat>Aat	p.D32467N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D26162N|TTN_uc021vta.1_Missense_Mutation_p.D26095N|TTN_uc021vtb.1_Missense_Mutation_p.D25970N|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33394							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)			GTGGTATAATCCCCTCCTGTC	0.493000														29			34		0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93106958	93106958	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:93106958C>T	uc003umv.2	-	5	582	c.282G>A	c.(280-282)tgG>tgA	p.W94*	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Nonsense_Mutation_p.W76*|CALCR_uc003umw.2_Nonsense_Mutation_p.W76*	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	76					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GCCATCCATCCCAGGTGCGAT	0.428000														24			14		0	0	1	0	0
PNPLA3	80339	broad.mit.edu	37	22	44328958	44328958	+	Silent	SNP	G	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:44328958G>C	uc003bei.1	+	3	860	c.687G>C	c.(685-687)ccG>ccC	p.P229P	PNPLA3_uc010gzm.1_Non-coding_Transcript	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN	Homo sapiens patatin-like phospholipase domain containing 3 (PNPLA3), mRNA.	229					triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity	p.P228S(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				TTGTCCCCCCGGATCTCAAGG	0.537000														28			37		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283061	5283061	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:5283061C>T	uc010zqw.2	-	1	788	c.780G>A	c.(778-780)acG>acA	p.T260T	PROKR2_uc010zqx.2_Silent_p.T260T|PROKR2_uc010zqy.2_Silent_p.T260T	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	260						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GAATCTGCTCCGTCTGGAACC	0.607000										HNSCC(71;0.22)				20			21		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130185060	130185060	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:130185060C>T	uc009zyl.1	-	1	591	c.263G>A	c.(262-264)aGg>aAg	p.R88K		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	88						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGGCAGCCTCCTGGATTTGTA	0.532000														40			11		0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97078132	97078132	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:97078132G>A	uc001kkp.3	-	29	3801	c.3756C>T	c.(3754-3756)ctC>ctT	p.L1252L	SORBS1_uc001kkk.3_Silent_p.L508L|SORBS1_uc001kkl.3_Silent_p.L596L|SORBS1_uc001kkn.3_Silent_p.L759L|SORBS1_uc001kkm.3_Silent_p.L794L|SORBS1_uc001kko.3_Silent_p.L1111L|SORBS1_uc001kkq.3_Silent_p.L865L|SORBS1_uc001kkr.3_Silent_p.L700L|SORBS1_uc001kks.3_Silent_p.L644L|SORBS1_uc001kkt.3_Non-coding_Transcript|SORBS1_uc001kku.3_Silent_p.L741L|SORBS1_uc001kkv.3_Silent_p.L776L|SORBS1_uc001kkw.3_Silent_p.L1226L|SORBS1_uc010qoe.2_Silent_p.L709L	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	1252	SH3 3.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTCCATCGCGGAGTTCCAACT	0.358000														20			49		0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168348570	168348570	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:168348570C>T	uc021zik.1	+	26	3766	c.3447C>T	c.(3445-3447)gcC>gcT	p.A1149A	MLLT4_uc003qwb.1_Silent_p.A1174A|MLLT4_uc003qwc.2_Silent_p.A1190A|MLLT4_uc021zij.1_Silent_p.A1173A|MLLT4_uc021zim.1_Silent_p.A736A|MLLT4_uc003qwg.1_Silent_p.A499A	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1190					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GTGCATATGCCTCTGGAACAA	0.408000			T	MLL	AL									11			12		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44891924	44891924	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:44891924G>A	uc010xxa.2	-	3	547	c.504C>T	c.(502-504)aaC>aaT	p.N168N	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Silent_p.N161N	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						TTCCCTGAGAGTTCTGGGGCT	0.448000														69			24		0	0	1	0	0
ALDH3B2	222	broad.mit.edu	37	11	67433000	67433000	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:67433000G>A	uc001omr.3	-	6	901	c.462C>T	c.(460-462)ttC>ttT	p.F154F	ALDH3B2_uc001oms.3_Silent_p.F154F|ALDH3B2_uc009ysa.1_Silent_p.F154F	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	154					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	TGAAGTAGCAGAACCAGGCCA	0.662000														134			35		0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137313574	137313574	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:137313574C>T	uc004cfb.2	+	5	995	c.833C>T	c.(832-834)aCc>aTc	p.T278I	RXRA_uc004cfc.1_Missense_Mutation_p.T181I|RXRA_uc004cfd.1_Missense_Mutation_p.T49I	NM_002957	NP_002948	P19793	RXRA_HUMAN	Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	278	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CAGCTTTTCACCCTGGTGGAG	0.602000														36			17		0	0	1	0	0
TMEM8C	389827	broad.mit.edu	37	9	136384016	136384016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:136384016G>A	uc011mdk.2	-	2	481	c.379C>T	c.(379-381)Ctc>Ttc	p.L127F		NM_001080483	NP_001073952	A6NI61	TMM8C_HUMAN	Homo sapiens transmembrane protein 8C (TMEM8C), mRNA.	127						integral to membrane		p.I126T(1)		NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						GCGATGATGAGGATGGCTGTG	0.622000														22			11		0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95562608	95562608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:95562608G>A	uc001ydw.2	-	23	4861	c.4649C>T	c.(4648-4650)aCt>aTt	p.T1550I	DICER1_uc010avh.1_Missense_Mutation_p.T448I|DICER1_uc021sbc.1_Missense_Mutation_p.T1550I|DICER1_uc001ydv.2_Missense_Mutation_p.T1540I|DICER1_uc001ydx.2_Missense_Mutation_p.T1550I|DICER1_uc001ydy.1_Missense_Mutation_p.T402I	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1550					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACACTGCTCAGTGTGCAAGTC	0.502000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					71			20		0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237285828	237285828	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:237285828C>T	uc002vwb.2	-	13	1537	c.1503_splice	c.e13-1	p.R501_splice	IQCA1_uc002vvz.1_Splice_Site_p.R493_splice|IQCA1_uc002vwa.1_Splice_Site|IQCA1_uc010zni.1_Splice_Site_p.R452_splice	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	493							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						ACTCGATGGTCCTGGGGAGAA	0.448000														22			25		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228509044	228509044	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:228509044G>A	uc009xez.1	+	55	14547	c.14503_splice	c.e55-1	p.V4835_splice	OBSCN_uc001hsn.3_Splice_Site_p.V4835_splice	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4835					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGTGCCCACAGGTTGGGGCCC	0.627000														13			20		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61569062	61569062	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:61569062G>A	uc010xeu.2	+	6	957	c.624G>A	c.(622-624)tgG>tgA	p.W208*	SERPINB2_uc002ljo.3_Nonsense_Mutation_p.W208*|SERPINB2_uc002ljp.1_Nonsense_Mutation_p.W13*|SERPINB2_uc002ljq.1_Nonsense_Mutation_p.W13*	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	208					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	AAGGAAAGTGGAAAACTCCAT	0.398000														25			23		0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152882400	152882400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152882400C>T	uc021ozl.1	+	0	127	c.127C>T	c.(127-129)Cca>Tca	p.P43S	IVL_uc001fau.3_Missense_Mutation_p.P43S	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	43					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTGCCTCCCCCATGCCAGAA	0.552000														48			45		0	0	1	0	0
HAPLN2	60484	broad.mit.edu	37	1	156593776	156593776	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:156593776G>A	uc001fpn.1	+	3	670	c.263G>A	c.(262-264)gGa>gAa	p.G88E	HAPLN2_uc010phq.1_Missense_Mutation_p.G88E	NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 2 (HAPLN2), mRNA.	88	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATCACCAACGGACTGCACGCC	0.701000														14			11		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124413284	124413284	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:124413284G>A	uc003ehg.3	+	52	7638	c.7511G>A	c.(7510-7512)tGg>tAg	p.W2504*	KALRN_uc003ehk.3_Nonsense_Mutation_p.W807*	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2503	Ig-like C2-type.				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						ACCATCACTTGGAAGGGTCCA	0.537000														84			21		0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109092241	109092241	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:109092241C>T	uc002tec.3	+	8	3149	c.2995C>T	c.(2995-2997)Cga>Tga	p.R999*	GCC2_uc002ted.3_Nonsense_Mutation_p.R898*	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	999					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TGAATCTCTTCGATCAGAAAA	0.308000														28			37		0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45518270	45518271	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:45518270_45518271CC>TT	uc002zea.3	+	20	3370_3371	c.3201_3202CC>TT	c.(3199-3204)ccccct>ccTTct	p.P1068S	TRAPPC10_uc010gpo.3_Missense_Mutation_p.P779S|TRAPPC10_uc011afa.2_Missense_Mutation_p.P446S|TRAPPC10_uc011afb.1_Missense_Mutation_p.P173S	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	1068					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AGATCTTTCCCCCTTCGGGAAT	0.485000														73			65		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121256123	121256123	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:121256123G>A	uc003yox.3	+	19	2620	c.2355G>A	c.(2353-2355)atG>atA	p.M785I	COL14A1_uc003yoy.3_Missense_Mutation_p.M463I	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	785	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTCAGGTTATGGTGCCTGGAA	0.438000														180			61		0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52003509	52003509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52003509G>A	uc002pwx.1	-	1	529	c.473C>T	c.(472-474)tCg>tTg	p.S158L	SIGLEC12_uc002pww.1_Missense_Mutation_p.S40L|SIGLEC12_uc010eoy.1_Intron	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	158	Ig-like V-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CACAGTCACCGACTCTGGCAC	0.572000														67			20		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167118	140167118	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140167118C>T	uc003lhb.2	+	0	1243	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	PCDHAC2_uc003lha.2_Missense_Mutation_p.R415C|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R415C	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	429	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCTGGATCGCGAGAGCCT	0.637000														49			97		0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25145419	25145419	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:25145419G>A	uc003abd.1	-	10	1703	c.1286C>T	c.(1285-1287)cCa>cTa	p.P429L	PIWIL3_uc011ajx.1_Missense_Mutation_p.P320L|PIWIL3_uc010gut.1_Missense_Mutation_p.P429L|PIWIL3_uc011ajy.1_Missense_Mutation_p.P320L	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	429					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CCTTCTTCTTGGACTCAATCT	0.353000														19			21		0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159409735	159409735	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:159409735G>A	uc010piv.2	+	0	224	c.187G>A	c.(187-189)Gat>Aat	p.D63N	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	63					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CATCCGAATGGATCTTCATCT	0.448000														100			27		0	0	1	0	0
BC035340	0	broad.mit.edu	37	13	113556606	113556606	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:113556606G>A	uc001vso.3	+	0		c.98G>A								Homo sapiens cDNA clone IMAGE:5185971, partial cds.																		CCAAAAAGGAGGAAACGGATC	0.537000														16			5		0	0	1	0	0
TBC1D26	353149	broad.mit.edu	37	17	15642096	15642096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:15642096G>A	uc010cov.3	+	7	699	c.449G>A	c.(448-450)aGc>aAc	p.S150N	TBC1D26_uc010cou.1_Missense_Mutation_p.S150N|TBC1D26_uc002gpb.4_Non-coding_Transcript	NM_178571	NP_848666	Q86UD7	TBC26_HUMAN	Homo sapiens TBC1 domain family, member 26 (TBC1D26), mRNA.	150	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		CTAGATGTCAGCCACACCCTG	0.542000														86			34		0	0	1	0	0
TM4SF1	4071	broad.mit.edu	37	3	149095243	149095243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:149095243G>A	uc003exb.1	-	0	326	c.92C>T	c.(91-93)cCc>cTc	p.P31L	TM4SF1_uc003exc.1_5'Flank	NM_014220	NP_055035	P30408	T4S1_HUMAN	Homo sapiens transmembrane 4 L six family member 1 (TM4SF1), mRNA.	31						integral to plasma membrane				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TTCCCCATTGGGAAAGTAAAG	0.527000														43			16		0	0	1	0	0
DYRK3	8444	broad.mit.edu	37	1	206821496	206821496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:206821496C>T	uc001hej.3	+	2	1121	c.953C>T	c.(952-954)tCc>tTc	p.S318F	DYRK3_uc001hek.3_Intron|DYRK3_uc001hei.3_Missense_Mutation_p.S298F	NM_003582	NP_003573	O43781	DYRK3_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 (DYRK3), transcript variant 1, mRNA.	318	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TTTGCCCAGTCCATCTTGCAA	0.433000														103			17		0	0	1	0	0
NDUFB6	4712	broad.mit.edu	37	9	32572893	32572894	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:32572893_32572894GG>AT	uc003zre.2	-	0	289_290	c.165_166CC>AT	c.(163-168)tcccct>tcATct	p.P56S	NDUFB6_uc003zrf.2_Missense_Mutation_p.P56S|NDUFB6_uc022bfg.1_Missense_Mutation_p.P56S	NM_002493	NP_002484	O95139	NDUB6_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa (NDUFB6), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	56					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)	NADH(DB00157)	TTCCTCCAAGGGGATTTATTCT	0.579000											OREG0019131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		10			46		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193031840	193031840	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:193031840C>T	uc011bsq.2	-	18	2301	c.2301G>A	c.(2299-2301)gaG>gaA	p.E767E		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	767					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAGGTCCAGTCTCTTGGTTCT	0.527000														76			18		0	0	1	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32605317	32605317	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:32605317G>A	uc003obr.3	+	1	135	c.82_splice	c.e1+1	p.A28_splice	HLA-DQA1_uc003obs.3_Splice_Site|HLA-DQA1_uc003obt.1_Splice_Site_p.A28_splice	NM_002122	NP_002113	P01909	DQA1_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 1 (HLA-DQA1), mRNA.	28	Alpha-1.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						AGACATTGTGGGTGAGTGCAT	0.493000														15			6		0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166927205	166927205	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:166927205G>A	uc001gdx.2	-	1	236	c.180C>T	c.(178-180)tcC>tcT	p.S60S		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	60	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CCTGGCAGTAGGACTTGAACT	0.542000														98			117		0	0	1	0	0
TFAP2E	339488	broad.mit.edu	37	1	36056263	36056263	+	Silent	SNP	C	T	T	rs140768899	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:36056263C>T	uc010ohy.2	+	5	1141	c.933C>T	c.(931-933)ttC>ttT	p.F311F	PSMB2_uc001bzd.2_Intron	NM_178548	NP_848643	Q6VUC0	AP2E_HUMAN	Homo sapiens transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon) (TFAP2E), mRNA.	311	H-S-H (helix-span-helix), dimerization.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.F303F(1)		endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CCCGAGACTTCGGTTACGTCT	0.642000														12			8		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51165626	51165627	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51165626_51165627GG>AA	uc002psx.1	-	22	6100_6101	c.6081_6082CC>TT	c.(6079-6084)cccctc>ccTTtc	p.L2028F	SHANK1_uc002psw.1_Missense_Mutation_p.L1412F	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	2028					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCTGGGTAGAGGGGTCCGGAAG	0.713000														10			9		0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9212986	9212986	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9212986G>A	uc010xkk.2	-	0	997	c.997C>T	c.(997-999)Ctg>Ttg	p.L333L		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GCACACCACAGAAGAGAAGGT	0.418000														31			22		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196658634	196658634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:196658634G>A	uc001gtj.4	+	7	1289	c.1049G>A	c.(1048-1050)gGa>gAa	p.G350E	CFH_uc021pgt.1_5'Flank|CFH_uc001gti.4_Missense_Mutation_p.G350E|CFH_uc009wyw.3_Missense_Mutation_p.G325E|CFH_uc009wyx.3_Missense_Mutation_p.G286E	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	350	Sushi 6.				complement activation, alternative pathway	extracellular space		p.G350E(2)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTAGCTGTAGGAAAATATTAC	0.383000														82			7		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169194513	169194513	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:169194513G>A	uc003irp.3	-	17	2783	c.2491C>T	c.(2491-2493)Cgt>Tgt	p.R831C		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	831	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTCGTAAAACGATTCTGAACA	0.393000														32			11		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62994231	62994231	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:62994231G>A	uc002alb.4	+	14	1737	c.1737G>A	c.(1735-1737)gcG>gcA	p.A579A		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	579					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGGGATGTGCGATCACCACTA	0.537000														51			27		0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141494	29141494	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29141494C>T	uc011dlm.2	+	0	184	c.82C>T	c.(82-84)Ctc>Ttc	p.L28F		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GGAAGTAGTTCTCTTTGTGGT	0.383000														109			56		0	0	1	0	0
EDN1	1906	broad.mit.edu	37	6	12296207	12296207	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:12296207G>A	uc003nae.4	+	4	880	c.546G>A	c.(544-546)atG>atA	p.M182I	EDN1_uc003nad.3_3'UTR|EDN1_uc003naf.4_Missense_Mutation_p.M181I	NM_001955	NP_001946	P05305	EDN1_HUMAN	Homo sapiens endothelin 1 (EDN1), transcript variant 1, mRNA.	182					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of JUN kinase activity|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				CGGAGACCATGAGAAACAGCG	0.403000														153			28		0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54173700	54173700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:54173700G>A	uc003pcj.2	+	0	498	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	TINAG_uc003pci.3_Missense_Mutation_p.E118K|TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	118					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTGGTATCCAGAAGGTAGGCT	0.403000														86			19		0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71977857	71977857	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:71977857C>T	uc001swl.3	+	17	2115	c.2067C>T	c.(2065-2067)gcC>gcT	p.A689A	LGR5_uc001swm.3_Silent_p.A665A|LGR5_uc021rar.1_Silent_p.A617A|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	689						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGCTCTGTGCCCTGCTGGCCT	0.547000														278			258		0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30126277	30126277	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:30126277C>T	uc003npo.3	-	2	731	c.655G>A	c.(655-657)Gat>Aat	p.D219N	TRIM10_uc003npn.2_Missense_Mutation_p.D219N	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	219						cytoplasm	zinc ion binding			ovary(1)	1						TCAAATTCATCCCGTTGCCTC	0.502000														246			133		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32382752	32382752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:32382752G>A	uc004dda.1	-	35	5345	c.5101C>T	c.(5101-5103)Ctt>Ttt	p.L1701F	DMD_uc004dcw.2_Missense_Mutation_p.L357F|DMD_uc004dcx.2_Missense_Mutation_p.L360F|DMD_uc004dcz.2_Missense_Mutation_p.L1578F|DMD_uc004dcy.1_Missense_Mutation_p.L1697F|DMD_uc004ddb.1_Missense_Mutation_p.L1693F|DMD_uc010ngo.1_Intron|DMD_uc022buq.1_Non-coding_Transcript	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1701	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCATCCAAAAGTGTGTCAGCC	0.373000														31			23		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241590	3241590	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:3241590C>T	uc004crg.4	-	4	2293	c.2136G>A	c.(2134-2136)agG>agA	p.R712R		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	712						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCAGAAGTCTCCTTGAAGTGT	0.502000														1			36		0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96956432	96956432	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:96956432T>C	uc002svu.3	-	18	2675	c.2543A>G	c.(2542-2544)gAc>gGc	p.D848G		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	848	Helicase C-terminal 1.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CTGCAGAATGTCCAGTGCTCC	0.507000														86			74		0	0	1	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806947	6806947	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:6806947C>T	uc001mer.2	+	0	700	c.679C>T	c.(679-681)Cat>Tat	p.H227Y		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 1 (OR2AG1), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACTGTGCTCCATATGCCATC	0.478000														44			35		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69513019	69513019	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:69513019C>T	uc021xow.1	-	5	1554	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	466					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										ATGACAAACTCAATCCAGAAG	0.443000														45			30		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193156317	193156317	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:193156317G>A	uc003ftd.3	-	22	2727	c.2619C>T	c.(2617-2619)gcC>gcT	p.A873A	ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	873					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)		TGAAAGGTGAGGCCACAGATG	0.448000														23			20		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155721887	155721887	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155721887C>T	uc001flz.2	-	29	6434	c.6337G>A	c.(6337-6339)Ggg>Agg	p.G2113R	GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Missense_Mutation_p.G2112R|GON4L_uc009wrh.1_Missense_Mutation_p.G2112R|GON4L_uc001fma.1_Missense_Mutation_p.G2113R	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	2113					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCCAAACCCCCTCTAGGGGCT	0.562000														144			19		0	0	1	0	0
ADAM11	4185	broad.mit.edu	37	17	42855416	42855416	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:42855416G>A	uc002ihh.3	+	23	2167	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	ADAM11_uc010wjd.2_Missense_Mutation_p.E523K|ADAM11_uc002ihi.3_Silent_p.G75G	NM_002390	NP_002381	O75078	ADA11_HUMAN	Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), mRNA.	723					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				ACCCACGGGGGAGACGGAGAG	0.597000														83			18		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11716606	11716606	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:11716606C>T	uc002rbk.1	+	4	882	c.582C>T	c.(580-582)gtC>gtT	p.V194V	GREB1_uc002rbl.3_Silent_p.V194V|GREB1_uc002rbm.3_Silent_p.V84V|GREB1_uc002rbn.1_Silent_p.V194V	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	194						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ATTACCTGGTCCGTAATGCAC	0.473000														129			46		0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15967379	15967379	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:15967379G>A	uc002wou.3	+	13	1257	c.993G>A	c.(991-993)gaG>gaA	p.E331E	MACROD2_uc002wot.3_Silent_p.E331E|MACROD2_uc002woz.3_Silent_p.E96E|MACROD2_uc002wpb.3_Silent_p.E96E|MACROD2_uc002wpd.3_5'UTR	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	331	Glu-rich.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CAGGACAAGAGAATGATTCAA	0.333000														24			8		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140811979	140811979	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140811979C>T	uc003lkt.2	+	0	1822	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Silent_p.F551F	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	553	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCCTGTTCGTGCTGGACC	0.652000														127			30		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147012282	147012282	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:147012282G>A	uc010jgo.1	-	11	1885	c.1737C>T	c.(1735-1737)gaC>gaT	p.D579D	JAKMIP2_uc003loq.1_Silent_p.D579D|JAKMIP2_uc011dbx.1_Silent_p.D537D|JAKMIP2_uc003lor.1_Silent_p.D558D|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	579						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCATTCTGGTCTCTGGCGT	0.368000														139			44		0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372940	24372940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:24372940C>T	uc002dmf.3	+	3	1906	c.704C>T	c.(703-705)tCa>tTa	p.S235L		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	235					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CGGAGGCGGTCAAGTTCTCGC	0.552000														19			22		0	0	1	0	0
AKR1C4	1109	broad.mit.edu	37	10	5255069	5255069	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:5255069G>A	uc001ihw.2	+	6	826	c.793G>A	c.(793-795)Gtt>Att	p.V265I		NM_001818	NP_001809	P17516	AK1C4_HUMAN	Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA.	265					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	GCAGCGTGGGGTTGTGGTCCT	0.557000														42			31		0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211055	59211055	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:59211055C>T	uc001nnx.1	+	0	414	c.414C>T	c.(412-414)atC>atT	p.I138I		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	138					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						ACCCCACTATCATGACCCAGG	0.542000														221			50		0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37036078	37036078	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:37036078G>A	uc002rpl.3	+	14	2155	c.1853G>A	c.(1852-1854)gGg>gAg	p.G618E	VIT_uc002rpm.3_Missense_Mutation_p.G603E|VIT_uc010ezv.3_Missense_Mutation_p.G581E|VIT_uc010ezw.3_Missense_Mutation_p.G582E	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	603	VWFA 2.					proteinaceous extracellular matrix		p.D617Y(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ATCACCGACGGGAGGTCCTAC	0.602000														114			10		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56247505	56247505	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:56247505G>A	uc002lhj.4	-	3	717	c.503C>T	c.(502-504)tCc>tTc	p.S168F		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	168							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						TGAATGGTTGGATTTGGAGGG	0.483000														69			49		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124209662	124209662	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:124209662C>T	uc003ehg.3	+	29	4639	c.4512C>T	c.(4510-4512)tcC>tcT	p.S1504S	KALRN_uc010hrv.1_Silent_p.S1495S|KALRN_uc003ehf.1_Silent_p.S1504S|KALRN_uc011bjy.1_Silent_p.S1495S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1504	PH 1.				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						TTGAGATCTCCTTGGTTTTTA	0.507000														61			24		0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54208088	54208088	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:54208088G>A	uc003pcj.2	+	4	835	c.689G>A	c.(688-690)tGg>tAg	p.W230*	TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	230					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TGGCCTGGATGGACTCATGGC	0.378000														14			34		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233489663	233489663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:233489663C>T	uc001hvt.4	+	2	1358	c.1097C>T	c.(1096-1098)cCa>cTa	p.P366L	KIAA1804_uc001hvs.1_Missense_Mutation_p.P366L	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	366	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				TTGCCCATTCCATCCACCTGC	0.502000														76			28		0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159778041	159778041	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:159778041G>A	uc001fud.4	+	2	168	c.126G>A	c.(124-126)tgG>tgA	p.W42*	FCRL6_uc010pix.1_Nonsense_Mutation_p.W37*|FCRL6_uc001fuc.2_Nonsense_Mutation_p.W49*|FCRL6_uc009wsz.1_Nonsense_Mutation_p.W42*|FCRL6_uc009wta.3_Nonsense_Mutation_p.W42*	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	42	Ig-like C2-type 1.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GTCAGGGATGGAAGAATACAC	0.517000														31			38		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14781588	14781588	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:14781588C>T	uc001rcd.3	-	19	2378	c.2241G>A	c.(2239-2241)aaG>aaA	p.K747K		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	747	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ACCCAAATATCTTGGCAAGTG	0.333000														57			12		0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170667979	170667979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:170667979C>T	uc003mba.3	+	22	2612	c.2470C>T	c.(2470-2472)Cca>Tca	p.P824S	RANBP17_uc003mbb.3_Missense_Mutation_p.P149S|RANBP17_uc003mbd.3_Missense_Mutation_p.P187S|RANBP17_uc010jjs.3_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	824					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCAGATTTATCCAATGAAACT	0.418000			T	TRD@	ALL									39			114		0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4470696	4470696	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:4470696G>A	uc001lyz.2	+	0	172	c.127G>A	c.(127-129)Gga>Aga	p.G43R		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G43E(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCCCTGCTTGGAAACTGCAC	0.532000														72			42		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368644	22368644	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:22368644C>T	uc010tzu.2	+	0	167	c.69C>T	c.(67-69)gtC>gtT	p.V23V	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTCCAGAGGTCCAACTAGTCC	0.378000														274			25		0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61835093	61835093	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:61835093G>A	uc002yeh.3	-	3	493	c.199C>T	c.(199-201)Cct>Tct	p.P67S	YTHDF1_uc011aaq.2_Missense_Mutation_p.P17S	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	67										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						AGGGAGTAAGGAAATCCAATG	0.512000														61			28		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506223	11506223	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11506223G>A	uc001qzw.1	-	3	848	c.811C>T	c.(811-813)Caa>Taa	p.Q271*	PRB1_uc001qzu.1_Nonsense_Mutation_p.Q139*|PRB1_uc001qzv.1_Nonsense_Mutation_p.Q119*	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	333	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in clone CP-4).|Missing (in clone CP-5).	R -> Q (in Ref. 6; AAB27288).		extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CGGGCACTTTGGGACTTGCTG	0.592000														259			72		0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63175538	63175538	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:63175538C>T	uc002sby.3	+	13	2144	c.1662C>T	c.(1660-1662)gtC>gtT	p.V554V	EHBP1_uc010fcp.3_Silent_p.V519V|EHBP1_uc002sbz.3_Silent_p.V519V|EHBP1_uc002scb.3_Silent_p.V519V	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	554						cytoplasm|membrane		p.V554I(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AACTAAATGTCGTTCAGATAG	0.343000														63			5		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106967482	106967482	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106967482C>T	uc021ser.1	-	263		c.10018G>A								Parts of antibodies, mostly variable regions.																		AGGTCCAGTCCATGGTGAAGA	0.498000														33			41		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46842856	46842856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:46842856G>A	uc002peh.3	+	14	2018	c.1987G>A	c.(1987-1989)Gca>Aca	p.A663T	HIF3A_uc010xxy.2_Missense_Mutation_p.A594T|HIF3A_uc002pel.3_Missense_Mutation_p.A661T	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	663					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.A661S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCAGCCAAGGGCAGGCTCAGC	0.622000														48			20		0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104054052	104054052	+	Splice_Site	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:104054052T>C	uc003hxb.1	-	42	6811	c.6721_splice	c.e42-1	p.E2241_splice	CENPE_uc003hxc.1_Splice_Site_p.E2120_splice	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	2241	Kinetochore-binding domain.				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			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)		TTTGAGAATTTCCTGTGTGAA	0.254000														87			45		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241889	3241889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:3241889G>A	uc004crg.4	-	4	1994	c.1837C>T	c.(1837-1839)Ctt>Ttt	p.L613F		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	613	Ig-like C2-type 2.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGTTTGGAAGAATCCAGCTA	0.453000														15			11		0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9325033	9325033	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9325033G>A	uc002mla.2	-	0	515	c.481C>T	c.(481-483)Cta>Tta	p.L161L		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TTCATCAGTAGAATATGAACC	0.527000														26			40		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135745462	135745462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:135745462C>T	uc002tue.1	-	6	1011	c.980G>A	c.(979-981)gGg>gAg	p.G327E	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.G214E|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.G55E|YSK4_uc002tui.4_Missense_Mutation_p.G344E	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	327							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)		CAAAGACTGCCCTTTTTCAAA	0.398000														10			21		0	0	1	0	0
TMEM222	84065	broad.mit.edu	37	1	27660755	27660755	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:27660755C>T	uc001bnr.4	+	4	575	c.522C>T	c.(520-522)ctC>ctT	p.L174L	TMEM222_uc021ojt.1_Non-coding_Transcript|TMEM222_uc001bns.4_Non-coding_Transcript|TMEM222_uc001bnt.4_Non-coding_Transcript	NM_032125	NP_115501	Q9H0R3	TM222_HUMAN	Homo sapiens transmembrane protein 222 (TMEM222), transcript variant 1, mRNA.	174						integral to membrane	protein binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						TCTGCCTGCTCTACGGGAAGT	0.572000														5			38		0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87359970	87359970	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:87359970C>T	uc004aoa.1	+	12	2216	c.1278C>T	c.(1276-1278)acC>acT	p.T426T	NTRK2_uc004anv.1_Silent_p.T413T|NTRK2_uc004any.1_Silent_p.T426T|NTRK2_uc004anz.1_Silent_p.T426T|NTRK2_uc004aob.1_Silent_p.T426T|NTRK2_uc011lsz.2_Silent_p.T426T|NTRK2_uc011lta.2_Silent_p.T426T|NTRK2_uc011ltb.1_Silent_p.T270T	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	426					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CTGATAAAACCGGTCGGGAAC	0.458000										TSP Lung(25;0.17)				4			41		0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83360882	83360882	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:83360882G>A	uc004eej.2	-	15	1404	c.1368C>T	c.(1366-1368)atC>atT	p.I456I	RPS6KA6_uc011mqt.2_Silent_p.I456I|RPS6KA6_uc011mqu.2_Silent_p.I353I	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	456	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTTTGTCAATGATCTAAGAAA	0.299000														1			28		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160676372	160676372	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:160676372T>C	uc002ubb.4	-	28	4092	c.4018A>G	c.(4018-4020)Aga>Gga	p.R1340G	LY75-CD302_uc010fos.3_Missense_Mutation_p.R1340G|LY75-CD302_uc002ubc.4_Missense_Mutation_p.R1340G	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	1340	C-type lectin 8.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										ATAGTTGGTCTTCCTGCTCTC	0.343000														43			20		0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528836	20528836	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20528836C>T	uc001vwn.1	+	0	633	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TCACCTGTTTCATCCTCTTGC	0.453000														115			21		0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	430393	430393	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:430393C>T	uc001lpi.2	-	7	635	c.550G>A	c.(550-552)Ggg>Agg	p.G184R	ANO9_uc001lph.2_5'Flank|ANO9_uc010qvv.1_Missense_Mutation_p.G40R	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	184						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						ACCTTTTCCCCAAAGTAGTTC	0.647000														17			16		0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016395	27016395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:27016395G>A	uc001mrd.3	+	0	768	c.322G>A	c.(322-324)Gac>Aac	p.D108N		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	Homo sapiens fin bud initiation factor homolog (zebrafish) (FIBIN), mRNA.	108						Golgi apparatus|extracellular region				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CATCTCCTACGACCTAGACGG	0.627000														38			10		0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42429147	42429147	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:42429147G>A	uc002igp.1	+	9	1382	c.1163G>A	c.(1162-1164)tGc>tAc	p.C388Y		NM_002087	NP_002078	P28799	GRN_HUMAN	Homo sapiens granulin (GRN), mRNA.	388					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GAGTGGGGCTGCTGTCCAATC	0.587000														53			14		0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45281499	45281499	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45281499G>A	uc002ozs.3	+	0	374	c.311G>A	c.(310-312)aGg>aAg	p.R104K	CBLC_uc010ejt.3_Missense_Mutation_p.R104K	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	104	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CGGGGCCGAAGGAGTGCCAAC	0.672000			M		AML									92			66		0	0	1	0	0
CMBL	134147	broad.mit.edu	37	5	10282390	10282390	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:10282390C>T	uc003jes.3	-	4	928	c.477G>A	c.(475-477)aaG>aaA	p.K159K		NM_138809	NP_620164	Q96DG6	CMBL_HUMAN	Homo sapiens carboxymethylenebutenolidase homolog (Pseudomonas) (CMBL), mRNA.	159						cytosol	hydrolase activity|protein binding			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						CTTCAGAATCCTTGACAATGC	0.438000														34			4		0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867366	6867366	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:6867366C>T	uc001met.1	+	0	453	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTTCCTGGTTCCCAGGCTTTC	0.542000														73			62		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113277642	113277642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:113277642C>T	uc003ynu.3	-	59	9845	c.9686G>A	c.(9685-9687)aGa>aAa	p.R3229K	CSMD3_uc003yns.3_Missense_Mutation_p.R2431K|CSMD3_uc003ynt.3_Missense_Mutation_p.R3189K|CSMD3_uc011lhx.2_Missense_Mutation_p.R3060K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3229	Sushi 24.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATCATACCTCTACAAGTTGG	0.313000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				53			29		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48634331	48634331	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:48634331C>T	uc003toq.2	+	57	14690	c.14666C>T	c.(14665-14667)cCc>cTc	p.P4889L	ABCA13_uc010kys.1_Missense_Mutation_p.P1964L|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.P619L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4889	ABC transporter 2.				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						GGGATGGATCCCTGCTCTAAG	0.488000														95			68		0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95385332	95385332	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:95385332G>A	uc001kiu.4	+	5	1003	c.865_splice	c.e5-1	p.E289_splice		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	289	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTGCCTCCAGGAATTCTACGA	0.378000														12			25		0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73070878	73070878	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:73070878G>A	uc001otu.3	+	10	4109	c.4088_splice	c.e10-1	p.G1363_splice		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1363					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TCTCCCTCTAGGGGCATCCCA	0.597000														46			7		0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82882185	82882186	+	Missense_Mutation	DNP	GG	AA	AA	rs143687532		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:82882185_82882186GG>AA	uc003pjl.1	-	27	4368_4369	c.3841_3842CC>TT	c.(3841-3843)cca>TTa	p.P1281L	IBTK_uc011dyu.1_Missense_Mutation_p.P232L|IBTK_uc011dyv.1_Missense_Mutation_p.P1266L|IBTK_uc011dyw.1_Missense_Mutation_p.P1080L|IBTK_uc010kbi.1_Missense_Mutation_p.P975L	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	1281					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AAAAGTGACTGGGGCTACCATG	0.371000														14			11		0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123886864	123886864	+	Missense_Mutation	SNP	G	A	A	rs141011157		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:123886864G>A	uc010sac.2	+	0	583	c.583G>A	c.(583-585)Gtg>Atg	p.V195M		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	195			V -> E (in dbSNP:rs4084209).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N194K(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTCAGCCAACGTGATGGTCAT	0.542000														10			57		0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507177	74507177	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:74507177G>A	uc001dfy.4	-	6	1630	c.1438C>T	c.(1438-1440)Cag>Tag	p.Q480*	LRRIQ3_uc001dfz.4_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	480										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AAACTGTTCTGAATTGTCTCT	0.328000														176			51		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088532	94088532	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:94088532G>A	uc001ybv.1	+	27	4571	c.4488G>A	c.(4486-4488)acG>acA	p.T1496T	UNC79_uc001ybs.1_Silent_p.T1474T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1651						integral to membrane		p.T1495T(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAGAGGAGACGATGAACCAAG	0.552000														79			15		0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47969824	47969824	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:47969824G>A	uc003csb.2	-	3	835	c.309C>T	c.(307-309)ttC>ttT	p.F103F	MAP4_uc003csc.3_Silent_p.F103F|MAP4_uc011bbf.1_Silent_p.F80F|MAP4_uc003csf.3_Silent_p.F120F	NM_002375	NP_002366	P27816	MAP4_HUMAN	Homo sapiens microtubule-associated protein 4 (MAP4), transcript variant 1, mRNA.	103					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TCTCTTCAAGGAATTCAGTTG	0.398000														25			38		0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054686	29054686	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29054686G>A	uc003nlx.3	-	0	405	c.340C>T	c.(340-342)Ctt>Ttt	p.L114F		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.									p.L114F(2)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						ACAGCCAGAAGGAGACACTCT	0.468000														51			43		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177225162	177225162	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:177225162G>A	uc001glf.3	+	2	689	c.377G>A	c.(376-378)gGa>gAa	p.G126E	FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.3_5'Flank	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	126						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						CGCCTCCTTGGAAGGAGACCC	0.468000											OREG0014006	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		70			44		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67121137	67121137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:67121137G>A	uc002jhw.1	-	8	1334	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	387					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GAAGGGTCAGGAAAAATTACA	0.284000														33			15		0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155935490	155935490	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155935490G>A	uc001fmu.2	-	8	792	c.537C>T	c.(535-537)ctC>ctT	p.L179L	ARHGEF2_uc001fmr.2_Silent_p.L107L|ARHGEF2_uc001fms.2_Silent_p.L134L|ARHGEF2_uc001fmt.2_Silent_p.L134L|ARHGEF2_uc010pgt.1_Silent_p.L107L|ARHGEF2_uc010pgu.1_Silent_p.L179L	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	134					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGGAGCCCAGGAGGGACTGCC	0.622000														57			9		0	0	1	0	0
FAH	2184	broad.mit.edu	37	15	80467368	80467368	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:80467368C>T	uc002bfm.2	+	9	1012	c.848C>T	c.(847-849)cCc>cTc	p.P283L	FAH_uc002bfn.2_Missense_Mutation_p.P213L|FAH_uc010bln.1_5'Flank|FAH_uc010blo.1_5'Flank	NM_000137	NP_000128	P16930	FAAA_HUMAN	Homo sapiens fumarylacetoacetate hydrolase (fumarylacetoacetase) (FAH), mRNA.	283					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GACCCCAGGCCCCTGCCGTAT	0.607000									Tyrosinemia, type 1					115			47		0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242065957	242065957	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:242065957G>A	uc002wao.2	-	9	2506	c.2373C>T	c.(2371-2373)gtC>gtT	p.V791V	PASK_uc010zol.2_Silent_p.V605V|PASK_uc010zom.2_Silent_p.V756V|PASK_uc010fzl.2_Silent_p.V791V|PASK_uc010zon.2_Silent_p.V572V|PASK_uc021vzf.1_Silent_p.V791V|PASK_uc002wap.3_Silent_p.V334V|PASK_uc002waq.3_Silent_p.V791V	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	791					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TGTCATCCAGGACACACGACC	0.567000														41			13		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62287212	62287212	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:62287212C>T	uc001ntl.3	-	4	14977	c.14677G>A	c.(14677-14679)Gaa>Aaa	p.E4893K	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4893					nervous system development	nucleus	protein binding	p.F4892F(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAGGGCCTTCGAAATCCAGA	0.458000														24			21		0	0	1	0	0
GTF2IRD2	84163	broad.mit.edu	37	7	74212452	74212452	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:74212452G>A	uc003ubd.1	-	15	1583	c.1399C>T	c.(1399-1401)Caa>Taa	p.Q467*	GTF2IRD2_uc010lbt.1_Nonsense_Mutation_p.Q14*	NM_173537	NP_775808	Q86UP8	GTD2A_HUMAN	Homo sapiens GTF2I repeat domain containing 2 (GTF2IRD2), mRNA.	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						tgattggtttgatagtggcgt	0.413000														161			39		0	0	1	0	0
DDAH2	23564	broad.mit.edu	37	6	31696231	31696231	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:31696231G>A	uc003nwp.3	-	2	1099	c.468C>T	c.(466-468)ttC>ttT	p.F156F	DDAH2_uc003nwq.3_Silent_p.F156F	NM_013974	NP_039268	O95865	DDAH2_HUMAN	Homo sapiens dimethylarginine dimethylaminohydrolase 2 (DDAH2), mRNA.	156					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	TCCGCACCCGGAACGTGTCCG	0.662000														174			34		0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677325	37677325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:37677325G>A	uc002ofq.3	-	4	1366	c.1114C>T	c.(1114-1116)Cat>Tat	p.H372Y	ZNF585B_uc002ofr.1_Missense_Mutation_p.H186Y	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCTCTGATGAATAATCAAC	0.423000														70			21		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2883593	2883593	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:2883593G>A	uc010ckd.3	+	8	699	c.609G>A	c.(607-609)aaG>aaA	p.K203K	RAP1GAP2_uc010cke.3_Silent_p.K188K	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	203					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	p.K203N(3)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CCAAACTGAAGACGGTACATG	0.542000														64			11		0	0	1	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87151852	87151852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:87151852G>A	uc003ydp.1	+	2	538	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 (ATP6V0D2), mRNA.	157					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						CATTCTGATCGAAACGCCATT	0.418000														23			44		0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27215978	27215978	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:27215978C>T	uc010hfk.3	-	6	893	c.664G>A	c.(664-666)Gat>Aat	p.D222N	NEK10_uc003cds.1_Missense_Mutation_p.D307N|NEK10_uc010hfj.3_Missense_Mutation_p.D222N			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	910							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						CTGGAGTTATCCGAAATGTCC	0.383000														56			28		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64601751	64601751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:64601751C>T	uc003dmg.3	-	19	2941	c.2909G>A	c.(2908-2910)gGg>gAg	p.G970E	ADAMTS9_uc011bfo.2_Missense_Mutation_p.G942E|ADAMTS9_uc003dmh.1_Missense_Mutation_p.G799E|ADAMTS9_uc003dmk.1_Missense_Mutation_p.G970E|ADAMTS9_uc011bfp.1_5'UTR	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	970	TSP type-1 3.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTCAGTCTTCCCATCCAGCCT	0.512000														368			182		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43414950	43414950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:43414950G>A	uc002ovj.1	-	2	587	c.488C>T	c.(487-489)gCt>gTt	p.A163V	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Missense_Mutation_p.A163V	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	164	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region		p.E163D(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TAAGCGCACAGCCTCCATGAC	0.542000														181			49		0	0	1	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970796	45970796	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:45970796G>A	uc002zfi.1	-	0	593	c.546C>T	c.(544-546)tgC>tgT	p.C182C	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	Homo sapiens keratin associated protein 10-2 (KRTAP10-2), mRNA.	182	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						CGGACACACAGCAGGACTGCT	0.612000														98			24		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10432708	10432709	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10432708_10432709CT>TA	uc010coi.3	-	24	3335_3336	c.3207_3208AG>TA	c.(3205-3210)caagaa>caTAaa	p.1069_1070QE>HK	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.1069_1070QE>HK|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1069					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATTATGGATTCTTGGGCCAACT	0.376000														56			17		0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026556	176026556	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:176026556G>A	uc003meo.1	-	1	455	c.280C>T	c.(280-282)Ccc>Tcc	p.P94S	GPRIN1_uc021yif.1_Missense_Mutation_p.P94S	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	94						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTGGGGAGGGGCAGGCCAGG	0.647000														15			62		0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17541264	17541264	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:17541264G>A	uc003ncb.3	+	8	1130	c.887G>A	c.(886-888)gGa>gAa	p.G296E	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.G270E|CAP2_uc011djb.2_Missense_Mutation_p.G232E|CAP2_uc011djc.2_Missense_Mutation_p.G184E|CAP2_uc011djd.2_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	296					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			CGGGCTCAAGGAGGGCAAACT	0.473000														108			61		0	0	1	0	0
TMX2	51075	broad.mit.edu	37	11	57480207	57480207	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:57480207G>A	uc001nlc.2	+	0	213	c.117G>A	c.(115-117)gtG>gtA	p.V39V	CTNND1_uc001nlf.2_5'UTR|MED19_uc001nla.1_5'Flank|MED19_uc001nlb.3_5'Flank|TMX2_uc001nld.2_5'UTR|TMX2_uc001nle.2_Silent_p.V39V|TMX2_uc021qji.1_Non-coding_Transcript	NM_015959	NP_057043	Q9Y320	TMX2_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 2 (TMX2), transcript variant 1, mRNA.	39					cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TCCTACTCGTGAGGAAACTGC	0.602000														65			18		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64520142	64520142	+	Nonsense_Mutation	SNP	C	T	T	rs80035540		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:64520142C>T	uc001xgl.3	+	47	9741	c.9511C>T	c.(9511-9513)Caa>Taa	p.Q3171*	SYNE2_uc001xgm.3_Nonsense_Mutation_p.Q3171*|SYNE2_uc021ruh.1_Nonsense_Mutation_p.Q3204*|SYNE2_uc010apw.1_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	3171					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GATAAAATCTCAATTACAGCA	0.318000														21			17		0	0	1	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22884757	22884757	+	Silent	SNP	G	A	A	rs141284481		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:22884757G>A	uc003xcu.2	-	6	1118	c.825C>T	c.(823-825)atC>atT	p.I275I	TNFRSF10B_uc003xcs.1_Silent_p.I40I|TNFRSF10B_uc011kzq.1_Silent_p.I95I|TNFRSF10B_uc003xcv.2_Silent_p.I173I|TNFRSF10B_uc003xct.2_Silent_p.I246I	NM_003842	NP_003833	O14763	TR10B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10b (TNFRSF10B), transcript variant 1, mRNA.	275					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	TRAIL binding|caspase activator activity|receptor activity	p.E274*(1)		NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		AGATACTCACGATCTCATTGA	0.557000														61			13		0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161536254	161536254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:161536254G>A	uc003qtn.3	+	25	4868	c.4726G>A	c.(4726-4728)Gac>Aac	p.D1576N	MAP3K4_uc003qto.3_Missense_Mutation_p.D1526N|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.D1029N|MAP3K4_uc003qtp.3_Missense_Mutation_p.D512N|MAP3K4_uc003qtq.3_Missense_Mutation_p.D265N	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	1576	Protein kinase.				JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TGAAGGAAAGGACTTCCTTTC	0.473000														25			7		0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93097404	93097404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:93097404C>T	uc001pdq.3	+	4	476	c.376C>T	c.(376-378)Cca>Tca	p.P126S	CCDC67_uc001pdo.1_Missense_Mutation_p.P126S|CCDC67_uc001pdp.3_Missense_Mutation_p.P126S	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	126								p.P125N(1)|p.P125T(1)|p.P125H(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AAAAGAATTACCACACCTTAA	0.294000														7			15		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996136	140996136	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:140996136C>T	uc004fbt.3	+	3	3270	c.2946C>T	c.(2944-2946)ctC>ctT	p.L982L	MAGEC1_uc010nsl.2_Silent_p.L49L|MAGEC1_uc022cfi.1_Silent_p.L641L	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	982	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CATTAGACCTCACCTCTGAGG	0.473000										HNSCC(15;0.026)				3			110		0	0	1	0	0
SGK1	6446	broad.mit.edu	37	6	134495211	134495211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:134495211C>T	uc003qen.4	-	2	249	c.160G>A	c.(160-162)Gtt>Att	p.V54I	SGK1_uc003qeo.4_Missense_Mutation_p.V149I|SGK1_uc011ect.2_Missense_Mutation_p.V44I|SGK1_uc011ecu.2_Missense_Mutation_p.V54I|SGK1_uc011ecv.2_Missense_Mutation_p.V68I|SGK1_uc011ecw.2_Missense_Mutation_p.V82I	NM_005627	NP_005618	O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.	54	Necessary for localization to the cytoplasm.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		ATGGACTGAACTTCAGGGCTG	0.498000														27			19		0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2530201	2530201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:2530201G>A	uc001ajy.2	-	11	1284	c.1070C>T	c.(1069-1071)aCt>aTt	p.T357I	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	357					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGATAGCACAGTTTGTATGAA	0.473000														18			31		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123805592	123805592	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:123805592G>A	uc010nqy.3	-	5	1173	c.1109C>T	c.(1108-1110)tCc>tTc	p.S370F	ODZ1_uc011muj.2_Missense_Mutation_p.S369F|ODZ1_uc004euj.3_Missense_Mutation_p.S370F	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	370					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						AGTGTCCATGGACTCGGTCCC	0.428000														35			35		0	0	1	0	0
PCP4L1	654790	broad.mit.edu	37	1	161254249	161254249	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:161254249G>A	uc001gad.3	+	2	433	c.185G>A	c.(184-186)aGg>aAg	p.R62K		NM_001102566	NP_001096036	A6NKN8	PC4L1_HUMAN	Homo sapiens Purkinje cell protein 4 like 1 (PCP4L1), mRNA.	62	IQ.									endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TTTCAGAAAAGGAAAAAGGAT	0.522000														49			25		0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64606074	64606074	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:64606074G>A	uc001dbj.2	+	5	1292	c.893G>A	c.(892-894)cGg>cAg	p.R298Q	ROR1_uc001dbi.4_Missense_Mutation_p.R298Q|AK096291_uc001dbl.3_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	298	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AACTGTATCCGGATTGGAATT	0.473000														11			15		0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54141904	54141904	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:54141904C>T	uc003xrh.1	-	2	1471	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N	OPRK1_uc022aup.1_Missense_Mutation_p.D246N|OPRK1_uc003xri.1_Missense_Mutation_p.D366N|OPRK1_uc010lyc.1_Missense_Mutation_p.D277N	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	366					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TAAGCAGGATCCTGAACTGTA	0.478000														39			27		0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62133120	62133120	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:62133120G>A	uc002jdz.2	-	12	1700	c.1587C>T	c.(1585-1587)tcC>tcT	p.S529S		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	529					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						AGGCCCTGGGGGACGTGCTGG	0.667000														18			11		0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117564216	117564216	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:117564216C>T	uc010oxb.1	+	6	2097	c.2039C>T	c.(2038-2040)tCa>tTa	p.S680L	CD101_uc009whd.3_Missense_Mutation_p.S680L|CD101_uc010oxc.1_Missense_Mutation_p.S680L|CD101_uc010oxd.1_Missense_Mutation_p.S618L	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	680	Ig-like C2-type 6.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAAGTGAATTCAAGGAGTCAA	0.368000														13			5		0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23845935	23845935	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:23845935G>A	uc002nri.3	-	1	211	c.29C>T	c.(28-30)gCc>gTc	p.A10V		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	Homo sapiens zinc finger protein 675 (ZNF675), mRNA.	10	KRAB.				I-kappaB kinase/NF-kappaB cascade|bone resorption|cytokine-mediated signaling pathway|hemopoiesis|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GAATTCTATGGCCACATCCCT	0.393000														65			12		0	0	1	0	0
GPANK1	7918	broad.mit.edu	37	6	31630286	31630286	+	Silent	SNP	G	A	A	rs113571875		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:31630286G>A	uc003nvn.3	-	2	1489	c.828C>T	c.(826-828)ccC>ccT	p.P276P	C6orf47_uc003nvm.1_5'Flank|GPANK1_uc021yuu.1_Silent_p.P276P|GPANK1_uc003nvo.4_Silent_p.P276P|GPANK1_uc003nvp.4_Silent_p.P276P|GPANK1_uc003nvq.3_Silent_p.P276P	NM_033177	NP_149417	O95872	GPAN1_HUMAN	Homo sapiens G patch domain and ankyrin repeats 1 (GPANK1), transcript variant 2, mRNA.	276	G-patch.					intracellular	nucleic acid binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						CCTCACCCCGGGGTCCCAGCC	0.647000														458			90		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925532	54925532	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:54925532G>A	uc001sgc.4	+	24	2783	c.2704G>A	c.(2704-2706)Gaa>Aaa	p.E902K	NCKAP1L_uc010sox.2_Missense_Mutation_p.E444K|NCKAP1L_uc010soy.2_Missense_Mutation_p.E852K	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	902					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTCAGGGGCTGAAAATGTGCT	0.502000														32			27		0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38800089	38800089	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:38800089C>T	uc001zke.4	-	8	1258	c.1080G>A	c.(1078-1080)aaG>aaA	p.K360K	RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Silent_p.K222K|RASGRP1_uc010bbg.3_Silent_p.K222K|RASGRP1_uc001zkd.4_Silent_p.K360K	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	360	Ras-GEF.				Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		AGATGAGGTCCTTGAGATGCA	0.507000														21			5		0	0	1	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665331	6665332	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:6665331_6665332CC>TT	uc002mfk.2	-	4	710_711	c.328_329GG>AA	c.(328-330)ggg>AAg	p.G110K	TNFSF14_uc002mfj.2_Missense_Mutation_p.G74K	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	110					T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						TAACAGCGGCCCCCCGCTGCCG	0.594000														9			4		0	0	1	0	0
CBLN4	140689	broad.mit.edu	37	20	54573733	54573733	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:54573733C>T	uc002xxa.3	-	2	1271	c.486G>A	c.(484-486)acG>acA	p.T162T		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Homo sapiens cerebellin 4 precursor (CBLN4), mRNA.	162	C1q.					cell junction|extracellular region|synapse		p.T162M(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			GGACACCATTCGTGGCAGCTT	0.403000														71			5		0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47202494	47202494	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:47202494G>A	uc003oyv.3	-	4	2083	c.1650C>T	c.(1648-1650)ttC>ttT	p.F550F		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	550					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			ACTCATCCACGAAGAAGCCCT	0.597000														17			4		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764286	92764286	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:92764286C>T	uc003umh.1	-	4	2215	c.999G>A	c.(997-999)tgG>tgA	p.W333*	SAMD9L_uc003umj.1_Nonsense_Mutation_p.W333*|SAMD9L_uc003umi.1_Nonsense_Mutation_p.W333*|SAMD9L_uc010lfb.1_Nonsense_Mutation_p.W333*|SAMD9L_uc003umk.1_Nonsense_Mutation_p.W333*|SAMD9L_uc010lfc.1_Nonsense_Mutation_p.W333*|SAMD9L_uc010lfd.1_Nonsense_Mutation_p.W333*|SAMD9L_uc022ahh.1_Nonsense_Mutation_p.W333*	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	333										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GGTTTTGTTTCCATATTTTAT	0.343000														90			17		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230953	21230953	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:21230953C>T	uc002red.3	-	25	8915	c.8787G>A	c.(8785-8787)tgG>tgA	p.W2929*		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2929					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGGCCCATTTCCATGACCCTT	0.478000														751			156		0	0	1	0	0
NOP14	8602	broad.mit.edu	37	4	2952880	2952880	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:2952880G>A	uc003ggj.1	-	6	1035	c.963C>T	c.(961-963)ttC>ttT	p.F321F	NOP14-AS1_uc003ggi.1_Intron|NOP14_uc010icp.2_Silent_p.F67F|NOP14_uc003ggl.3_Silent_p.F321F|NOP14_uc010icq.1_Non-coding_Transcript	NM_003703	NP_003694	P78316	NOP14_HUMAN	Homo sapiens NOP14 nucleolar protein homolog (yeast) (NOP14), mRNA.	321					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	Noc4p-Nop14p complex|mitochondrion|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TATCTAGCACGAAGCCATCAT	0.358000														14			69		0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54163574	54163574	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:54163574G>A	uc003xrh.1	-	0	399	c.24C>T	c.(22-24)ttC>ttT	p.F8F	OPRK1_uc022aup.1_5'UTR|OPRK1_uc003xri.1_Silent_p.F8F|OPRK1_uc010lyc.1_5'UTR	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	8					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GCTCCCCGCGGAAGATCTGGA	0.726000														14			7		0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47935701	47935701	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:47935701C>T	uc010ele.3	-	8	2127	c.2111_splice	c.e8-1	p.G704_splice	SLC8A2_uc002pgx.3_Splice_Site_p.G704_splice|SLC8A2_uc010xyq.2_Splice_Site_p.G460_splice|SLC8A2_uc010xyr.2_Splice_Site_p.G167_splice			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	704					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCTCCTCGTCCCCTGTGGGCA	0.587000														55			36		0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26821496	26821496	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:26821496T>G	uc010wan.2	+	8	1488	c.1421T>G	c.(1420-1422)cTg>cGg	p.L474R	SLC13A2_uc010wam.2_Missense_Mutation_p.L381R|SLC13A2_uc002hbh.3_Missense_Mutation_p.L425R|SLC13A2_uc010wao.2_Missense_Mutation_p.L382R|SLC13A2_uc002hbi.3_Missense_Mutation_p.L354R	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	425						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GTGTTATTGCTGGGTGGTGGC	0.612000											OREG0024276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			66		0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123482006	123482006	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:123482006C>T	uc001uej.1	-	9	1537	c.1338G>A	c.(1336-1338)aaG>aaA	p.K446K	PITPNM2_uc001uek.1_Silent_p.K446K	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	446					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TAGCATCGCCCTTCTTGGAGC	0.682000														115			41		0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28195179	28195179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:28195179C>T	uc003adj.3	-	0	2308	c.1353G>A	c.(1351-1353)atG>atA	p.M451I		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	451							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TGGCCACGTTCATGTAGGGGG	0.637000			T	ETV6	"""AML, meningioma"""									13			16		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123844368	123844368	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:123844368G>A	uc001lfv.3	+	3	2713	c.2353G>A	c.(2353-2355)Gag>Aag	p.E785K	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.E785K|TACC2_uc010qtv.2_Missense_Mutation_p.E785K	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	785						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)				CCCCCAGGGGGAGAACTTGGC	0.637000														46			21		0	0	1	0	0
NFIA	4774	broad.mit.edu	37	1	61872316	61872316	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:61872316C>T	uc010oos.2	+	9	1554	c.1472C>T	c.(1471-1473)gCc>gTc	p.A491V	NFIA_uc001czy.3_Missense_Mutation_p.A438V|NFIA_uc001czw.3_Missense_Mutation_p.A446V|NFIA_uc001czv.3_Missense_Mutation_p.A446V|NFIA_uc001czx.3_Missense_Mutation_p.A94V|NFIA_uc009wae.3_Non-coding_Transcript	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	446					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						CCACCGATGGCCAGGCCTGTG	0.647000														1			11		0	0	1	0	0
PTPLAD2	401494	broad.mit.edu	37	9	21011630	21011630	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:21011630T>C	uc010miq.2	-	4	494	c.448A>G	c.(448-450)Aca>Gca	p.T150A	PTPLAD2_uc010mir.1_Missense_Mutation_p.T150A	NM_001010915	NP_001010915	Q5VWC8	HACD4_HUMAN	Homo sapiens protein tyrosine phosphatase-like A domain containing 2 (PTPLAD2), mRNA.	150					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		ATCCATAGTGTTTGACTGAGC	0.378000														7			14		0	0	1	0	0
MYPOP	339344	broad.mit.edu	37	19	46393919	46393919	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:46393919G>A	uc002pdt.3	-	2	1249	c.1162C>T	c.(1162-1164)Cct>Tct	p.P388S		NM_001012643	NP_001012661	Q86VE0	MYPOP_HUMAN	Homo sapiens Myb-related transcription factor, partner of profilin (MYPOP), mRNA.	388						nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						TTCCGTGTAGGGAAACCTTTT	0.642000														45			7		0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63487368	63487368	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:63487368T>G	uc001nxq.3	+	2	1581	c.1394T>G	c.(1393-1395)gTg>gGg	p.V465G	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Missense_Mutation_p.V353G|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Missense_Mutation_p.V446G|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	465					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GGTTCTGGAGTGGCCACAGTG	0.458000														69			14		0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052675	44052675	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:44052675G>A	uc001jaw.4	-	1	1506	c.853C>T	c.(853-855)Cat>Tat	p.H285Y	ZNF239_uc001jax.4_Missense_Mutation_p.H285Y|ZNF239_uc009xmj.3_Missense_Mutation_p.H285Y|ZNF239_uc009xmk.3_Missense_Mutation_p.H285Y|ZNF239_uc021pph.1_Missense_Mutation_p.H285Y	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TCGCCTGTATGGACGGCATGA	0.502000														128			44		0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17898368	17898368	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:17898368C>T	uc002rco.3	-	12	1464	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	SMC6_uc010exo.3_Missense_Mutation_p.E390K|SMC6_uc002rcn.3_Missense_Mutation_p.E390K|SMC6_uc002rcp.1_Missense_Mutation_p.E416K|SMC6_uc002rcq.2_Missense_Mutation_p.E416K|SMC6_uc002rcr.1_Missense_Mutation_p.E390K	NM_001142286	NP_078900	Q96SB8	SMC6_HUMAN	Homo sapiens structural maintenance of chromosomes 6 (SMC6), transcript variant 1, mRNA.	390					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTTTCAGCTCTTCAATTCGT	0.294000														48			26		0	0	1	0	0
SLC26A2	1836	broad.mit.edu	37	5	149357662	149357662	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:149357662C>T	uc003lrh.3	+	1	715	c.447C>T	c.(445-447)atC>atT	p.I149I		NM_000112	NP_000103	P50443	S26A2_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA.	149						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTGCCAGCATCATTTATTTTC	0.458000														25			58		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51524264	51524264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:51524264C>T	uc003pah.1	-	60	10936	c.10660G>A	c.(10660-10662)Gaa>Aaa	p.E3554K		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3554					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.E3554Q(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGCGTATTTCAATGGGCTCC	0.408000														60			10		0	0	1	0	0
FAM20A	54757	broad.mit.edu	37	17	66538868	66538868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:66538868C>T	uc002jho.3	-	5	1183	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	FAM20A_uc010wqp.2_Missense_Mutation_p.E161K|FAM20A_uc002jhn.3_Missense_Mutation_p.M1I	NM_017565	NP_001230675	Q96MK3	FA20A_HUMAN	Homo sapiens family with sequence similarity 20, member A (FAM20A), transcript variant 1, mRNA.	299						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					TGCAGGATTTCATTCTTGGTG	0.517000														94			27		0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3581967	3581967	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:3581967G>A	uc002kmf.3	-	7	2398	c.1871C>T	c.(1870-1872)aCc>aTc	p.T624I	DLGAP1_uc010wyz.2_Missense_Mutation_p.T624I|DLGAP1_uc010dkn.3_Missense_Mutation_p.T332I|DLGAP1_uc002kme.2_Missense_Mutation_p.T322I|DLGAP1_uc010wyw.2_Missense_Mutation_p.T330I|DLGAP1_uc010wyx.2_Missense_Mutation_p.T346I|DLGAP1_uc010wyy.2_Missense_Mutation_p.T308I|DLGAP1_uc002kmg.3_Missense_Mutation_p.T322I	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	624	Poly-Thr.				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				ggtggtgacggtggcagtgTT	0.542000														14			16		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	101847168	101847168	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:101847168C>T	uc003pqp.4	+	0	308	c.15C>T	c.(13-15)ttC>ttT	p.F5F	GRIK2_uc021zdi.1_Non-coding_Transcript|GRIK2_uc021zdj.1_Silent_p.F5F|GRIK2_uc003pqn.3_Silent_p.F5F|GRIK2_uc010kcw.3_Silent_p.F5F|GRIK2_uc003pqo.4_Silent_p.F5F|GRIK2_uc021zdk.1_Silent_p.F5F|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	5					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AGATTATTTTCCCGATTCTAA	0.483000														20			10		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31609403	31609403	+	Missense_Mutation	SNP	G	A	A	rs147533056	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:31609403G>A	uc002rnv.1	-	8	749	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	224					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGCTGCTTCCGAGGAGTGTCT	0.507000														117			16		0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101639683	101639683	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:101639683G>A	uc001kqj.2	-	15	4525	c.4433C>T	c.(4432-4434)tCc>tTc	p.S1478F	DNMBP_uc010qpl.1_Missense_Mutation_p.S414F|DNMBP_uc001kqg.2_Missense_Mutation_p.S766F|DNMBP_uc001kqh.2_Missense_Mutation_p.S1110F	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	1478					intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCCTGGTACGGAGTAGCCAAC	0.537000														28			59		0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19377812	19377812	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:19377812C>T	uc010tkp.2	+	0	219	c.219C>T	c.(217-219)ccC>ccT	p.P73P		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCACACTCCCATGTACATGT	0.413000														122			30		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167021975	167021975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:167021975C>T	uc003irh.2	+	20	3636	c.2989C>T	c.(2989-2991)Cat>Tat	p.H997Y	TLL1_uc011cjn.2_Missense_Mutation_p.H1020Y|TLL1_uc011cjo.2_Missense_Mutation_p.H821Y	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	997	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAAGGGATTTCATATAAGATA	0.343000														53			30		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32975518	32975518	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:32975518C>T	uc001rlj.4	-	8	1969	c.1854G>A	c.(1852-1854)ctG>ctA	p.L618L	PKP2_uc001rlk.4_Silent_p.L574L|PKP2_uc010skj.2_Silent_p.L574L	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	618					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.L618R(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GCTCTGCCTCCAGCTGGTAGG	0.413000														58			20		0	0	1	0	0
GSPT1	2935	broad.mit.edu	37	16	11980332	11980332	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:11980332A>T	uc010bux.3	-	8	1518	c.835T>A	c.(835-837)Tac>Aac	p.Y279N	GSPT1_uc002dbu.3_Missense_Mutation_p.Y416N|GSPT1_uc002dbt.3_Missense_Mutation_p.Y417N	NM_001130007	NP_001123479	P15170	ERF3A_HUMAN	Homo sapiens G1 to S phase transition 1 (GSPT1), transcript variant 3, mRNA.	279					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity	p.W278*(1)		breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						ACTTACATGTACCAAGGACAG	0.343000														16			8		0	0	1	0	0
NCF4	4689	broad.mit.edu	37	22	37268389	37268389	+	Silent	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:37268389A>G	uc003apy.4	+	6	733	c.549A>G	c.(547-549)ggA>ggG	p.G183G	NCF4_uc003apz.4_Silent_p.G183G	NM_000631	NP_000622	Q15080	NCF4_HUMAN	Homo sapiens neutrophil cytosolic factor 4, 40kDa (NCF4), transcript variant 1, mRNA.	183	SH3.				cell communication|immune response|oxidation-reduction process	NADPH oxidase complex|cytosol	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						ACTTCACTGGAAACAGCAAAC	0.468000														67			29		0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53958276	53958276	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53958276C>T	uc010eqp.3	+	6	973	c.515C>T	c.(514-516)tCc>tTc	p.S172F	ZNF761_uc010ydy.2_Missense_Mutation_p.S118F|ZNF761_uc002qbt.2_Missense_Mutation_p.S118F	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CACGATGCTTCCTTGGTTTCA	0.383000														81			23		0	0	1	0	0
C1QA	712	broad.mit.edu	37	1	22965364	22965364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:22965364G>A	uc001bfy.3	+	2	287	c.202G>A	c.(202-204)Gga>Aga	p.G68R		NM_015991	NP_057075	P02745	C1QA_HUMAN	Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA.	68	Collagen-like.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGCCTTAAAGGAGACCAGGG	0.637000														6			5		0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4928768	4928768	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:4928768G>A	uc010qyq.2	+	0	169	c.169G>A	c.(169-171)Gag>Aag	p.E57K		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		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)		CTCGCTTCATGAGCCCATGTA	0.488000														61			52		0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50961914	50961914	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:50961914C>T	uc002psf.2	+	20	2460	c.2409C>T	c.(2407-2409)acC>acT	p.T803T		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	803	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ATCTCCCGACCGGAGCCAGAA	0.662000														35			9		0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36986360	36986360	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:36986360T>G	uc003jkl.4	+	9	3577	c.3078T>G	c.(3076-3078)agT>agG	p.S1026R	NIPBL_uc003jkk.4_Missense_Mutation_p.S1026R|NIPBL_uc003jkm.1_Missense_Mutation_p.S905R	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	1026					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AATCAAGAAGTTCCCTTAAAC	0.299000														31			68		0	0	1	0	0
GLYCTK	132158	broad.mit.edu	37	3	52327106	52327106	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:52327106C>T	uc003ddo.3	+	4	1632	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	GLYCTK_uc003ddq.2_3'UTR|GLYCTK_uc003ddm.3_Non-coding_Transcript|GLYCTK_uc003ddn.3_Non-coding_Transcript|GLYCTK_uc003ddp.1_Missense_Mutation_p.H354Y|GLYCTK_uc003ddr.3_Silent_p.V176V	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	Homo sapiens glycerate kinase (GLYCTK), transcript variant 1, mRNA.	512					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		GTACCAATGTCATGGACACCC	0.557000														35			6		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80085292	80085292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:80085292C>T	uc010ysh.2	+	2	457	c.452C>T	c.(451-453)tCc>tTc	p.S151F	CTNNA2_uc010yse.2_Missense_Mutation_p.S151F|CTNNA2_uc010ysf.2_Missense_Mutation_p.S151F|CTNNA2_uc010ysg.2_Missense_Mutation_p.S151F	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	151					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGACTTTTATCCCATCTGAAA	0.483000														22			17		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94564538	94564538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:94564538C>T	uc001dqh.3	-	5	684	c.580G>A	c.(580-582)Gga>Aga	p.G194R	ABCA4_uc010otn.1_Missense_Mutation_p.G194R	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	194					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCGGGACTCCATGAGCGAAC	0.582000														2			11		0	0	1	0	0
RXFP4	339403	broad.mit.edu	37	1	155911667	155911667	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155911667G>A	uc010pgs.2	+	0	188	c.167G>A	c.(166-168)gGa>gAa	p.G56E		NM_181885	NP_871001	Q8TDU9	RL3R2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 4 (RXFP4), mRNA.	56						integral to membrane|plasma membrane	angiotensin type II receptor activity			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGCTTGCTGGGAAATTTGGCG	0.597000														70			47		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228124588	228124588	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:228124588C>T	uc002vom.2	+	18	1271	c.1109C>T	c.(1108-1110)cCa>cTa	p.P370L	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	370	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GCTCGTGGCCCACAAGGTAAG	0.423000														36			21		0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79181018	79181018	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:79181018G>A	uc002jzp.1	-	3	494	c.294C>T	c.(292-294)ttC>ttT	p.F98F	AZI1_uc002jzn.1_Silent_p.F98F|AZI1_uc002jzo.1_Silent_p.F98F|AZI1_uc010wum.1_Silent_p.F98F	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	98					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGAGCATCAGGAAGTCTGTGG	0.632000														38			9		0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6358673	6358673	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:6358673G>A	uc002gdd.4	-	19	3061	c.2910C>T	c.(2908-2910)ttC>ttT	p.F970F	PITPNM3_uc010cln.3_Silent_p.F934F|PITPNM3_uc010clm.3_Silent_p.F453F|PITPNM3_uc002gdc.4_Silent_p.F561F	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	970					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GCACCGACTCGAACTTGGGGG	0.741000														14			3		0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47730372	47730372	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:47730372G>A	uc002eev.4	+	28	3028	c.2976G>A	c.(2974-2976)caG>caA	p.Q992Q	PHKB_uc002eeu.4_Silent_p.Q985Q|PHKB_uc002eew.4_Silent_p.Q233Q	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	992					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ATATTGACCAGCCACAGTACA	0.403000														14			3		0	0	1	0	0
ITPK1	3705	broad.mit.edu	37	14	93483031	93483031	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:93483031T>C	uc001ybg.3	-	3	525	c.236A>G	c.(235-237)cAc>cGc	p.H79R	ITPK1_uc001ybe.2_Missense_Mutation_p.H79R|ITPK1_uc001ybf.3_5'UTR|ITPK1_uc001ybh.3_Missense_Mutation_p.H79R	NM_014216	NP_055031	Q13572	ITPK1_HUMAN	Homo sapiens inositol-tetrakisphosphate 1-kinase (ITPK1), transcript variant 1, mRNA.	79					blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CTGGAACCTGTGCACCAGCTC	0.592000														48			29		0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52896133	52896133	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:52896133G>A	uc002lga.3	-	18	2190	c.2130C>T	c.(2128-2130)ctC>ctT	p.L710L	TCF4_uc021ukg.1_Silent_p.L444L|TCF4_uc021ukh.1_Silent_p.L444L|TCF4_uc002lfw.4_Silent_p.L448L|TCF4_uc010xdu.1_Silent_p.L474L|TCF4_uc010xdv.1_Silent_p.L474L|TCF4_uc021uki.1_Silent_p.L533L|TCF4_uc002lfx.2_Silent_p.L537L|TCF4_uc010xdw.1_Silent_p.L474L|TCF4_uc002lfy.2_Silent_p.L562L|TCF4_uc010xdx.1_Silent_p.L580L|TCF4_uc021ukj.1_Silent_p.L544L|TCF4_uc021ukk.1_Silent_p.L548L|TCF4_uc021ukl.1_Silent_p.L601L|TCF4_uc002lfz.2_Silent_p.L604L|TCF4_uc010dph.1_Silent_p.L608L|TCF4_uc010dpi.3_Silent_p.L614L|TCF4_uc010xdy.1_Silent_p.L584L	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	604					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GGAGGATCAGGAGCTTGGTCT	0.622000														25			12		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85932477	85932477	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:85932477C>T	uc003dql.3	+	2	254	c.254C>T	c.(253-255)tCc>tTc	p.S85F	CADM2_uc003dqj.3_Missense_Mutation_p.S83F|CADM2_uc003dqk.3_Missense_Mutation_p.S92F|CADM2_uc003dqm.2_5'UTR|CADM2_uc021xay.1_5'UTR|CADM2_uc021xaz.1_5'UTR|CADM2_uc021xba.1_5'UTR	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	83	Ig-like V-type.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GTTCGCGCTTCCTGGCATGAA	0.388000														20			11		0	0	1	0	0
ZNF37BP	100129482	broad.mit.edu	37	10	43016150	43016150	+	RNA	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:43016150A>G	uc001jab.4	-	4		c.3050T>C			ZNF37BP_uc001jac.4_Non-coding_Transcript|ZNF37BP_uc001jaa.4_Non-coding_Transcript					Homo sapiens zinc finger protein 37B, pseudogene (ZNF37BP), non-coding RNA.																		GAATGGGTAAACATTCTGATG	0.343000														19			7		0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52003319	52003319	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52003319G>A	uc002pwx.1	-	1	719	c.663C>T	c.(661-663)ctC>ctT	p.L221L	SIGLEC12_uc002pww.1_Silent_p.L103L|SIGLEC12_uc010eoy.1_Intron	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	221	Ig-like V-type 2.				cell adhesion	integral to membrane	sugar binding	p.L221I(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCCCAAGGAGGAGGAATCGAC	0.542000														60			46		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587637	247587637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:247587637C>T	uc001icr.3	+	4	1030	c.892C>T	c.(892-894)Ctc>Ttc	p.L298F	NLRP3_uc001ics.3_Missense_Mutation_p.L298F|NLRP3_uc001icu.3_Missense_Mutation_p.L298F|NLRP3_uc001icw.3_Missense_Mutation_p.L298F|NLRP3_uc001icv.3_Missense_Mutation_p.L298F|NLRP3_uc010pyw.2_Missense_Mutation_p.L296F|NLRP3_uc001ict.1_Missense_Mutation_p.L296F	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	298	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTCCAGAATCCTCTTCCTCAT	0.582000														102			20		0	0	1	0	0
OR51B4	79339	broad.mit.edu	37	11	5322321	5322321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5322321G>A	uc010qza.2	-	0	856	c.856C>T	c.(856-858)Cct>Tct	p.P286S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAAATGATAGGATTCACGAAT	0.428000														36			13		0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138461459	138461459	+	Silent	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:138461459A>G	uc011bmq.2	-	2	562	c.562T>C	c.(562-564)Tta>Cta	p.L188L		NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	188	PI3K-RBD.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TTATCTTCTAAGTTTTCAGGG	0.358000														305			109		0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48422237	48422237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:48422237C>T	uc003csr.3	+	7	1006	c.820C>T	c.(820-822)Cct>Tct	p.P274S	FBXW12_uc010hjv.3_Missense_Mutation_p.P255S|FBXW12_uc003css.3_Missense_Mutation_p.P204S|FBXW12_uc010hjw.3_Missense_Mutation_p.P173S	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	274										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGCAGTGTTCCTCTGTCTAC	0.483000														82			13		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677342	3677342	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:3677342G>A	uc002wja.3	-	9	2574	c.2574C>T	c.(2572-2574)tcC>tcT	p.S858S	SIGLEC1_uc002wiz.4_Silent_p.S858S	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	858	Ig-like C2-type 8.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTAACTTCAGGGAGTTGGCCT	0.592000														74			27		0	0	1	0	0
MARCH11	441061	broad.mit.edu	37	5	16067685	16067685	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:16067685C>T	uc003jfo.2	-	3	1317	c.1104G>A	c.(1102-1104)caG>caA	p.Q368Q	MARCH11_uc010itw.1_Silent_p.Q124Q	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 11 (MARCH11), mRNA.	368						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CATAGCCACACTGAAACCTTG	0.493000														233			28		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566546	45566546	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:45566546C>T	uc010dnv.3	-	2	1435	c.999G>A	c.(997-999)aaG>aaA	p.K333K	ZBTB7C_uc002ldb.3_Silent_p.K311K|ZBTB7C_uc010dnu.3_Silent_p.K320K|ZBTB7C_uc010dnw.3_Silent_p.K311K|ZBTB7C_uc010dnx.1_Silent_p.K311K|ZBTB7C_uc010dny.1_Silent_p.K311K|ZBTB7C_uc010dnz.1_Silent_p.K333K|ZBTB7C_uc010doi.1_Silent_p.K311K|ZBTB7C_uc010doj.1_Silent_p.K320K|ZBTB7C_uc010dok.1_Silent_p.K360K|ZBTB7C_uc010dol.1_Silent_p.K320K|ZBTB7C_uc010doa.1_Silent_p.K333K|ZBTB7C_uc010dob.1_Silent_p.K311K|ZBTB7C_uc010doc.1_Silent_p.K320K|ZBTB7C_uc010dod.1_Silent_p.K333K|ZBTB7C_uc010doe.1_Silent_p.K311K|ZBTB7C_uc010dof.1_Silent_p.K311K|ZBTB7C_uc010dog.1_Silent_p.K311K|ZBTB7C_uc010doh.1_Silent_p.K320K|ZBTB7C_uc010dom.1_Silent_p.K320K|ZBTB7C_uc010don.1_Silent_p.K319K|ZBTB7C_uc010dop.1_Silent_p.K311K|ZBTB7C_uc010doq.1_Silent_p.K320K|ZBTB7C_uc010dor.1_Silent_p.K333K|ZBTB7C_uc010dos.1_Silent_p.K311K|ZBTB7C_uc010dot.1_Silent_p.K311K|ZBTB7C_uc010doo.1_Silent_p.K311K|ZBTB7C_uc010dou.1_Silent_p.K320K	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	311						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GGAACATGTCCTTGAAGAAGT	0.602000														30			13		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364041	22364041	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:22364041C>T	uc002nqs.1	-	2	796	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TAAATTCTTTCATGTTGAGAT	0.328000														24			39		0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99126808	99126808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:99126808G>A	uc001knf.3	-	25	3176	c.3037C>T	c.(3037-3039)Cgc>Tgc	p.R1013C	RRP12_uc001kne.3_Missense_Mutation_p.R28C|RRP12_uc009xvl.3_Missense_Mutation_p.R130C|RRP12_uc009xvm.3_Missense_Mutation_p.R731C|RRP12_uc010qou.2_Missense_Mutation_p.R952C|RRP12_uc009xvn.3_Missense_Mutation_p.R913C	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	1013						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)		CCAAACTTGCGGATGAACTTG	0.587000														57			20		0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234355427	234355427	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:234355427C>T	uc002vui.1	+	11	1416	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	DGKD_uc002vuj.1_Silent_p.F424F|DGKD_uc010fyh.1_Silent_p.F335F|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	468					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CCGAAGACTTCAGCGAGGATT	0.597000														16			26		0	0	1	0	0
HSPA7	3311	broad.mit.edu	37	1	161577088	161577088	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:161577088C>T	uc010pkp.1	+	0	1240	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F						Homo sapiens heat shock 70kDa protein 7 (HSP70B) (HSPA7), non-coding RNA.																		TTCATGACTTCGTCCTGGGGG	0.592000														29			50		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56370067	56370067	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56370067G>A	uc002qmd.4	+	2	1730	c.1308G>A	c.(1306-1308)aaG>aaA	p.K436K	NLRP4_uc002qmf.3_Silent_p.K361K|NLRP4_uc010etf.3_Silent_p.K267K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	436	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGGGCACCAAGATACTTCTGA	0.537000														91			29		0	0	1	0	0
OTX2	5015	broad.mit.edu	37	14	57268715	57268715	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:57268715G>A	uc001xcq.3	-	4	906	c.632C>T	c.(631-633)tCa>tTa	p.S211L	OTX2_uc001xcp.3_Missense_Mutation_p.S203L|OTX2_uc021rtm.1_Missense_Mutation_p.S33L|OTX2_uc010aou.3_Missense_Mutation_p.S203L	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	203					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GGTCAAATATGATCCACAGTC	0.527000														24			29		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411951	51411951	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:51411951C>T	uc001nhi.2	-	0	498	c.445G>A	c.(445-447)Gga>Aga	p.G149R		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	149					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)				ACAAAACCTCCAATCATGGCC	0.453000														31			24		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54919113	54919113	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:54919113C>T	uc021smr.1	+	30	6441	c.6441C>T	c.(6439-6441)atC>atT	p.I2147I	UNC13C_uc021sms.1_Silent_p.I2149I|UNC13C_uc002acm.3_Silent_p.I70I	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	2149	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATCGAATTATCGGAATGACAG	0.413000														61			24		0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47162162	47162162	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:47162162G>A	uc003cqv.3	-	2	4017	c.3931C>T	c.(3931-3933)Cga>Tga	p.R1311*	SETD2_uc003cqs.3_Nonsense_Mutation_p.R1322*	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.R819*(2)|p.R1322*(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCTTGAGTTCGATCATACACA	0.463000			"""N, F, S, Mis"""		clear cell renal carcinoma									21			37		0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29784308	29784308	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:29784308G>A	uc002kxj.4	+	6	579	c.532G>A	c.(532-534)Gac>Aac	p.D178N		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	178	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GATAATGTGGGACAGAATTCT	0.443000														5			4		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43420371	43420371	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:43420371G>A	uc002ovj.1	-	1	432	c.333C>T	c.(331-333)gtC>gtT	p.V111V	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Silent_p.V111V	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	112	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CCTCCTGTGTGACATTCTGGA	0.443000														202			166		0	0	1	0	0
KRT24	192666	broad.mit.edu	37	17	38856616	38856616	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:38856616C>T	uc002hvd.3	-	3	932	c.875G>A	c.(874-876)gGa>gAa	p.G292E		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	Homo sapiens keratin 24 (KRT24), mRNA.	292	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TCCAGAGCTTCCTTGCATATT	0.463000														194			121		0	0	1	0	0
AK310228	0	broad.mit.edu	37	16	16465372	16465372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:16465372C>T	uc002dey.2	+	0	376	c.89C>T	c.(88-90)tCg>tTg	p.S30L						SubName: Full=cDNA FLJ42525 fis, clone BRACE3001391, highly similar to Polycystin;																		CCCAACAACTCGGACTGGGCT	0.682000														9			8		0	0	1	0	0
JAM2	58494	broad.mit.edu	37	21	27071148	27071148	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:27071148G>A	uc002ylp.1	+	4	1099	c.554G>A	c.(553-555)aGc>aAc	p.S185N	JAM2_uc011ace.1_Missense_Mutation_p.S185N|JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Missense_Mutation_p.S149N	NM_021219	NP_067042	P57087	JAM2_HUMAN	Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA.	185	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GGCTCCCAAAGCACCAACAGC	0.398000														29			9		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064875	7064875	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:7064875C>T	uc001mfb.1	+	3	1941	c.1618C>T	c.(1618-1620)Cga>Tga	p.R540*		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	540					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAATGAAGATCGAGTAAAACA	0.348000														26			33		0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60928079	60928080	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:60928079_60928080CC>TT	uc001xez.4	-	12	1219_1220	c.1109_1110GG>AA	c.(1108-1110)ggg>gAA	p.G370E	C14orf39_uc010apo.3_Missense_Mutation_p.G81E	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	370										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TACCTTTATCCCCTTTTTCCGA	0.287000														17			8		0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524174	24524174	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:24524174C>T	uc002wtw.1	+	1	1074	c.441C>T	c.(439-441)tcC>tcT	p.S147S		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	147					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						ACACCCTGTCCTACGATGTGG	0.547000														65			69		0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139564069	139564069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:139564069C>T	uc021zfy.1	-	9	1814	c.1649G>A	c.(1648-1650)cGg>cAg	p.R550Q		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	550						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTCTGAATCCCGTGAAGGGAT	0.592000														34			29		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506381	11506381	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11506381G>A	uc001qzw.1	-	3	690	c.653C>T	c.(652-654)cCa>cTa	p.P218L	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	280	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGTCCTTGTGGCTTTCCTGG	0.602000														94			156		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179441054	179441054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179441054C>T	uc021vsy.1	-	274	62326	c.62101G>A	c.(62101-62103)Gga>Aga	p.G20701R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G14396R|TTN_uc021vta.1_Missense_Mutation_p.G14329R|TTN_uc021vtb.1_Missense_Mutation_p.G14204R|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21628							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A20700V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTCAAGTCCACCATCATAA	0.473000														27			6		0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735218	55735218	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55735218A>T	uc010rit.2	-	0	722	c.722T>A	c.(721-723)tTa>tAa	p.L241*		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TCCAAAGAATAAGATTACAAC	0.388000														27			9		0	0	1	0	0
RTP1	132112	broad.mit.edu	37	3	186917391	186917391	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:186917391C>T	uc003frg.3	+	1	355	c.325C>T	c.(325-327)Ctc>Ttc	p.L109F		NM_153708	NP_714919	P59025	RTP1_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA.	109					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CGTGGTCATCCTCTTCCACAT	0.662000														55			14		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702577	27702577	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:27702577C>T	uc001itu.2	-	0	721	c.603G>A	c.(601-603)agG>agA	p.R201R		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	201					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CGGTGCTCCTCCTGGAGGCGG	0.617000														64			69		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814408	106814408	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:106814408G>A	uc003ymd.3	+	7	2121	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	ZFPM2_uc011lhs.2_Missense_Mutation_p.E431K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	700					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAGCCGGCACGAAACATACAT	0.488000														12			15		0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57437088	57437088	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:57437088G>A	uc001smw.4	-	10	1187	c.947C>T	c.(946-948)gCt>gTt	p.A316V	MYO1A_uc010sqz.2_Missense_Mutation_p.A154V|MYO1A_uc009zpd.3_Missense_Mutation_p.A316V	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	316	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CGAGCACAAAGCTCTCTCTAC	0.502000														53			16		0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628483	51628483	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51628483G>A	uc010yct.2	+	0	347	c.252G>A	c.(250-252)tgG>tgA	p.W84*	SIGLEC9_uc002pvu.3_Nonsense_Mutation_p.W84*	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	84	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GGGCAGTGTGGGAGGAGACTC	0.567000														66			19		0	0	1	0	0
CENPA	1058	broad.mit.edu	37	2	27015690	27015690	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:27015690G>A	uc002rhr.3	+	2	460	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	CENPA_uc002rhs.3_Intron|CENPA_uc002rht.3_Non-coding_Transcript	NM_001809	NP_001800	P49450	CENPA_HUMAN	Homo sapiens centromere protein A (CENPA), transcript variant 1, mRNA.	93	CATD.|H3-like.				CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	DNA binding|chromatin binding|protein binding			endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCCTATTGGCCCTACAAGA	0.517000														75			14		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118949435	118949435	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:118949435C>T	uc004bjn.3	+	1	799	c.418C>T	c.(418-420)Ctg>Ttg	p.L140L	PAPPA_uc011lxp.1_5'UTR|PAPPA_uc011lxq.2_5'UTR	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	140					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.G139G(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCACATAGGGCTGTATGACAA	0.413000														2			28		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599996	29599996	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:29599996G>A	uc001usl.4	+	0	1249	c.1191G>A	c.(1189-1191)ggG>ggA	p.G397G		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	387						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						TCAACCCAGGGGAGCAGGATT	0.562000														1			9		0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54785238	54785238	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:54785238G>A	uc004dtj.2	-	7	1299	c.1269C>T	c.(1267-1269)tcC>tcT	p.S423S		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	423	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										AGCTGAAAAGGGATACCCTGT	0.592000														13			11		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21860086	21860086	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:21860086G>T	uc001war.2	-	33	6856	c.6791C>A	c.(6790-6792)aCa>aAa	p.T2264K	CHD8_uc001was.2_Missense_Mutation_p.T1985K	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	2264					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTTCTGGAATGTTAACTTCAA	0.433000														39			8		1.76689e-08	1.77552e-08	1	1	0
DMBT1	1755	broad.mit.edu	37	10	124390643	124390643	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:124390643C>T	uc001lgk.1	+	45	5911	c.5805C>T	c.(5803-5805)gcC>gcT	p.A1935A	DMBT1_uc001lgl.1_Silent_p.A1925A|DMBT1_uc001lgm.1_Silent_p.A1307A|DMBT1_uc021qaf.1_Silent_p.A1935A|DMBT1_uc021qag.1_Silent_p.A1925A|DMBT1_uc021qah.1_Silent_p.A1307A|DMBT1_uc009xzz.1_Silent_p.A1935A|DMBT1_uc010qtx.1_Silent_p.A655A|DMBT1_uc009yab.1_Silent_p.A638A|DMBT1_uc009yac.1_Silent_p.A229A	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1935	SRCR 14.				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)				CAGTTTCAGCCCTTGGAAATG	0.572000														51			21		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53686161	53686161	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:53686161C>T	uc001sck.2	+	27	5987	c.5896C>T	c.(5896-5898)Cga>Tga	p.R1966*	ESPL1_uc001scj.2_Nonsense_Mutation_p.R1641*	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1966					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGAGCAATTTCGAGCCAATTT	0.527000														89			24		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70916794	70916794	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:70916794G>A	uc002ezr.3	-	59	10132	c.9981C>T	c.(9979-9981)ttC>ttT	p.F3327F		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3328										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCGGTCACGAAGGCTGGGG	0.507000														7			38		0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161167843	161167843	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:161167843G>A	uc001fyt.4	-	0	1003	c.575C>T	c.(574-576)cCc>cTc	p.P192L	ADAMTS4_uc001fyu.2_Missense_Mutation_p.P192L|NDUFS2_uc001fyv.3_5'Flank	NM_005099	NP_005090	O75173	ATS4_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA.	192					proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTTGCACATGGGACCTTGACC	0.647000														48			110		0	0	1	0	0
C7orf42	55069	broad.mit.edu	37	7	66418263	66418263	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:66418263C>T	uc003tvk.3	+	5	1095	c.831C>T	c.(829-831)ctC>ctT	p.L277L	C7orf42_uc010lah.3_Non-coding_Transcript	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN	Homo sapiens chromosome 7 open reading frame 42 (C7orf42), mRNA.	277						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	17						GTTACTTCCTCTTTGTGATGG	0.398000														88			85		0	0	1	0	0
SDC1	6382	broad.mit.edu	37	2	20403808	20403808	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:20403808G>A	uc002rdo.1	-	2	692	c.393C>T	c.(391-393)ctC>ctT	p.L131L	SDC1_uc002rdp.1_Silent_p.L131L|SDC1_uc010exv.3_Silent_p.L131L|SDC1_uc010exw.1_Non-coding_Transcript	NM_002997	NP_002988	P18827	SDC1_HUMAN	Homo sapiens syndecan 1 (SDC1), transcript variant 2, mRNA.	131					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GAGTGGTCGGGAGCTGTGTGG	0.692000														118			40		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169321985	169321985	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:169321985C>T	uc021xuh.1	-	24	3593	c.3483G>A	c.(3481-3483)caG>caA	p.Q1161Q	DDX60L_uc003irq.4_Silent_p.Q1161Q|DDX60L_uc003irr.1_Silent_p.Q1161Q|DDX60L_uc003irs.1_Silent_p.Q856Q	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1161							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ACATCCTTTTCTGTGTCTTCC	0.363000														36			5		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210308	100210308	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:100210308G>A	uc002taf.3	-	13	2034	c.1890C>T	c.(1888-1890)ccC>ccT	p.P630P	AFF3_uc002tag.3_Silent_p.P605P|AFF3_uc010fiq.1_Silent_p.P605P|AFF3_uc010yvr.1_Silent_p.P758P|AFF3_uc002tah.1_Silent_p.P630P	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	605					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGGGCTCCTCGGGCCGGTGGC	0.751000														12			4		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39607206	39607206	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:39607206C>T	uc003xnj.3	-	16	1930	c.1855G>A	c.(1855-1857)Gac>Aac	p.D619N	ADAM2_uc003xnk.3_Missense_Mutation_p.D600N|ADAM2_uc011lck.2_Missense_Mutation_p.D556N|ADAM2_uc003xnl.3_Missense_Mutation_p.D463N	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	619	EGF-like.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTGCATTTGTCAGTAGTACAA	0.358000														67			27		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326619	57326619	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:57326619T>G	uc002qnu.2	-	6	3542	c.3191A>C	c.(3190-3192)cAa>cCa	p.Q1064P	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.Q1035P|PEG3_uc002qnv.2_Missense_Mutation_p.Q1064P|PEG3_uc002qnw.2_Missense_Mutation_p.Q940P|PEG3_uc002qnx.2_Missense_Mutation_p.Q938P|PEG3_uc010etr.2_Missense_Mutation_p.Q1064P	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1064					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATTCTCGCCTTGAGACTCCTC	0.478000														73			23		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411972	51411972	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:51411972G>A	uc001nhi.2	-	0	477	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	142					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)				ACCACCAACAGAAGGAAGCAA	0.463000														31			26		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10951333	10951333	+	Missense_Mutation	SNP	G	A	A	rs148393004		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:10951333G>A	uc002yip.1	-	9	747	c.379C>T	c.(379-381)Cgt>Tgt	p.R127C	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.R109C|TPTE_uc002yir.1_Missense_Mutation_p.R89C|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	127					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R126Q(1)|p.R126*(1)|p.R109C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATAGAACGATACTCCAAA	0.338000														66			10		0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30982813	30982813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:30982813C>T	uc002ead.1	+	12	3817	c.3131C>T	c.(3130-3132)tCc>tTc	p.S1044F		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	1044	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						tcctcatcctcctcctcctcc	0.552000														43			12		0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236740197	236740197	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:236740197C>T	uc001hyd.2	-	20	2960	c.2808G>A	c.(2806-2808)agG>agA	p.R936R	HEATR1_uc009xgh.2_Silent_p.R179R	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	936					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GAATGGCAGCCCTACGAACTT	0.388000														68			67		0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	428123	428123	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:428123G>A	uc001lpi.2	-	14	1384	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	ANO9_uc001lph.2_Silent_p.F126F|ANO9_uc010qvv.1_Silent_p.F289F	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	433						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TGAGAGACGAGAAATGGGTGA	0.582000														63			39		0	0	1	0	0
KLF1	10661	broad.mit.edu	37	19	12996295	12996295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:12996295C>T	uc002mvo.3	-	1	812	c.749G>A	c.(748-750)gGg>gAg	p.G250E		NM_006563	NP_006554	Q13351	KLF1_HUMAN	Homo sapiens Kruppel-like factor 1 (erythroid) (KLF1), mRNA.	250	Pro-rich.				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTGCAGTCCCCCCGAGTCC	0.706000														6			5		0	0	1	0	0
SFTA3	253970	broad.mit.edu	37	14	36946243	36946243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:36946243C>T	uc001wtr.3	-	2	826	c.194G>A	c.(193-195)gGa>gAa	p.G65E	SFTA3_uc001wtq.3_Non-coding_Transcript|SFTA3_uc001wts.3_Non-coding_Transcript	NM_001101341	NP_001094811	P0C7M3	SFTA3_HUMAN	Homo sapiens surfactant associated 3 (SFTA3), mRNA.	65								p.P64L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						ATGGACTGTTCCTGGACTTGG	0.517000														75			73		0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26584716	26584716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:26584716C>T	uc001mqw.3	-	3	1145	c.872G>A	c.(871-873)aGg>aAg	p.R291K	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Missense_Mutation_p.R264K|MUC15_uc001mqy.3_Intron	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	264						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						ATCCGTTTTCCTTTTTCCACA	0.393000														55			15		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103703762	103703762	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:103703762G>A	uc001vpy.4	-	3	1203	c.606C>T	c.(604-606)gcC>gcT	p.A202A		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	202					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.G201G(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CAATGAGGATGGCGCCCGCGA	0.438000														26			6		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595107	82595107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:82595107C>T	uc003uhx.2	-	3	4286	c.3997G>A	c.(3997-3999)Gaa>Aaa	p.E1333K	PCLO_uc003uhv.2_Missense_Mutation_p.E1333K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1270					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						TTCCCAGGTTCCACCTGATCA	0.363000														46			61		0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410433	159410433	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:159410433G>A	uc010piv.2	+	0	922	c.885G>A	c.(883-885)ctG>ctA	p.L295L	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	295					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CTCCCCTACTGAACCCTGTGG	0.507000														57			42		0	0	1	0	0
USP42	84132	broad.mit.edu	37	7	6196598	6196598	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:6196598G>A	uc011jwo.1	+	15	3978	c.3855G>A	c.(3853-3855)ctG>ctA	p.L1285L	USP42_uc011jwp.2_Silent_p.L1285L|USP42_uc011jwq.2_Silent_p.L1092L	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	Homo sapiens ubiquitin specific peptidase 42 (USP42), mRNA.	1285					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GCCCGCCTCTGGAAGGCGTCG	0.557000														45			16		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20403870	20403870	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20403870G>A	uc001vwj.2	+	0	104	c.45G>A	c.(43-45)ttG>ttA	p.L15L		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTGTACTTTTGGGACTCTCTA	0.348000														215			66		0	0	1	0	0
PGBD2	267002	broad.mit.edu	37	1	249211569	249211569	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:249211569G>A	uc001ifh.3	+	2	933	c.786G>A	c.(784-786)ttG>ttA	p.L262L	PGBD2_uc001ifg.3_Silent_p.L11L|PGBD2_uc009xhd.3_Silent_p.L259L|PGBD2_uc021pmh.1_Silent_p.L11L	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	262										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATGCACCCTTGGAAGAGTTCT	0.502000														43			96		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314140	54314140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:54314140C>T	uc002qcj.4	-	2	993	c.773G>A	c.(772-774)aGt>aAt	p.S258N	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.S258N|NLRP12_uc002qci.4_Missense_Mutation_p.S258N|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.S258N	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	258	NACHT.				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)		TTCCGTGGCACTCTGGTTCAT	0.567000														25			15		0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4548095	4548095	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:4548095G>A	uc010dud.2	-	13	1807	c.1545C>T	c.(1543-1545)ccC>ccT	p.P515P	SEMA6B_uc010xih.1_Intron	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.	515	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACGCAGCGGGGGAAGGCAG	0.697000														8			8		0	0	1	0	0
C14orf102	55051	broad.mit.edu	37	14	90755409	90755409	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:90755409G>A	uc001xyi.2	-	10	2543	c.2310C>T	c.(2308-2310)ctC>ctT	p.L770L	C14orf102_uc010atp.1_Silent_p.L275L|C14orf102_uc001xyj.2_Silent_p.L539L	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	770							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		GCTCCTTAAGGAGATTCTTGG	0.433000														247			121		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44932551	44932551	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:44932551C>T	uc002oze.1	-	5	2839	c.2405G>A	c.(2404-2406)gGg>gAg	p.G802E	ZNF229_uc010ejk.1_Missense_Mutation_p.G456E|ZNF229_uc010ejl.1_Missense_Mutation_p.G796E	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	802					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GAAGCCTTTCCCACACACACC	0.493000														48			16		0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69352141	69352141	+	Splice_Site	SNP	C	T	T	rs112578863		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:69352141C>T	uc001xkl.3	-	12	1695	c.1385_splice	c.e12+1	p.N462_splice	ACTN1_uc001xkk.3_Intron|ACTN1_uc010ttb.2_Splice_Site_p.N397_splice|ACTN1_uc001xkm.3_Splice_Site_p.N462_splice|ACTN1_uc001xkn.3_Splice_Site_p.N462_splice|ACTN1_uc010ttc.2_Intron|ACTN1_uc001xko.1_Splice_Site_p.N397_splice|ACTN1_uc010ttd.1_Splice_Site_p.N441_splice	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	462	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGGCCACCTACTTGAGCTCCT	0.642000														29			13		0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158746549	158746549	+	Missense_Mutation	SNP	G	A	A	rs144962739		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:158746549G>A	uc010pir.2	-	0	877	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	293					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)					TCCTTGTTACGAAGACTGTAG	0.418000														69			67		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13922233	13922233	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:13922233C>T	uc003jfd.2	-	4	685	c.643G>A	c.(643-645)Gag>Aag	p.E215K	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	215	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)					TTCAGACTCTCCTGTGCACCC	0.507000									Kartagener syndrome					13			36		0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529724	5529724	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5529724G>A	uc021qcw.1	-	0	1065	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Silent_p.S355S	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	355										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGTTCCTAGGGACTGGGGGT	0.493000														143			45		0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23701585	23701585	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:23701585C>T	uc003zpu.3	-	4	780	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	ELAVL2_uc003zps.3_Missense_Mutation_p.G169R|ELAVL2_uc003zpt.3_Missense_Mutation_p.G169R|ELAVL2_uc003zpv.3_Missense_Mutation_p.G169R|ELAVL2_uc003zpw.3_Missense_Mutation_p.G169R	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	169	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.G169W(4)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CGAATAAACCCTACACCCCTT	0.433000														45			19		0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66660289	66660289	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:66660289G>A	uc003tvn.3	+	14	2091	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	TYW1_uc010lai.3_Non-coding_Transcript|TYW1_uc011kef.2_Missense_Mutation_p.E262K|PMS2P4_uc003tvo.2_Intron	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	648					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ATGTGAACACGAACACTCTAA	0.473000														17			46		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130408835	130408835	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:130408835G>A	uc004ewe.4	-	17	3787	c.3504C>T	c.(3502-3504)ccC>ccT	p.P1168P	IGSF1_uc004ewd.3_Silent_p.P1163P|IGSF1_uc022cdv.1_Silent_p.P1154P|IGSF1_uc004ewf.2_Silent_p.P1143P	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1163	Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTGACAGAGAGGGTTTAGGGG	0.478000														6			98		0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54275315	54275315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:54275315G>A	uc004dtc.2	-	16	3905	c.3466C>T	c.(3466-3468)Cca>Tca	p.P1156S	WNK3_uc004dtd.2_Missense_Mutation_p.P1156S	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	1156					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCTGTCACTGGACAGGAGAGG	0.463000														1			64		0	0	1	0	0
C9orf96	169436	broad.mit.edu	37	9	136259533	136259533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:136259533G>A	uc004cdk.3	+	7	760	c.699G>A	c.(697-699)atG>atA	p.M233I	C9orf96_uc004cdl.3_Non-coding_Transcript	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	Homo sapiens chromosome 9 open reading frame 96 (C9orf96), mRNA.	233	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCTCCTTCATGGATGTGAGCC	0.622000														18			19		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150554810	150554810	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:150554810C>T	uc003why.1	+	2	5470	c.1252C>T	c.(1252-1254)Ctc>Ttc	p.L418F	ABP1_uc003whz.1_Missense_Mutation_p.L418F|ABP1_uc003wia.1_Missense_Mutation_p.L418F	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	418					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	AGCCCTCTGCCTCTTTGAAAT	0.582000														42			18		0	0	1	0	0
PEF1	553115	broad.mit.edu	37	1	32098175	32098175	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:32098175G>A	uc001bth.2	-	3	919	c.546C>T	c.(544-546)ttC>ttT	p.F182F	PEF1_uc021okp.1_Silent_p.F112F|PEF1_uc021okq.1_Silent_p.F47F|PEF1_uc001bte.1_Silent_p.F21F	NM_012392	NP_036524	Q9UBV8	PEF1_HUMAN	Homo sapiens penta-EF-hand domain containing 1 (PEF1), transcript variant 1, mRNA.	182	EF-hand 2.|EF-hand 3.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		ACTGCTGGATGAATTTCCACA	0.572000														14			10		0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107267343	107267343	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:107267343C>T	uc011lvm.2	+	0	800	c.800C>T	c.(799-801)tCa>tTa	p.S267L		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCTGTAGATTCACAGGAAATA	0.478000														29			18		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43821160	43821160	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:43821160G>A	uc001zrt.3	+	3	7956	c.7489G>A	c.(7489-7491)Gag>Aag	p.E2497K		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2497						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)	TGTGACTGATGAGACACCCCC	0.617000														69			47		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10265785	10265785	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10265785C>T	uc002gmk.1	-	3	330	c.240G>A	c.(238-240)atG>atA	p.M80I		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	80	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGGAGGGTTCATGGGGAAGA	0.483000														89			30		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15811070	15811070	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:15811070T>C	uc002ddx.3	-	38	5559	c.5452A>G	c.(5452-5454)Aag>Gag	p.K1818E	MYH11_uc002ddv.3_Missense_Mutation_p.K1818E|MYH11_uc002ddw.3_Missense_Mutation_p.K1811E|MYH11_uc002ddy.3_Missense_Mutation_p.K1811E|MYH11_uc010bvg.3_Missense_Mutation_p.K1643E|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Missense_Mutation_p.K517E	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1811					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GACTTGAACTTGGACTTGACG	0.632000			T	CBFB	AML									58			23		0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2230299	2230299	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:2230299G>A	uc010bsg.1	-	17	3102	c.3070C>T	c.(3070-3072)Cct>Tct	p.P1024S		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA.	1024	Pro-rich.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						TGGCCCTCAGGAGGCCTGCGG	0.721000														3			3		0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147741282	147741282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:147741282C>T	uc003ikx.4	-	10	1424	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	TTC29_uc003ikw.4_Missense_Mutation_p.E366K|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Missense_Mutation_p.E366K	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.	366							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CTCACTTTTTCATTGTAGATG	0.328000														105			28		0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012134	29012134	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29012134G>A	uc003nlw.2	-	0	819	c.819C>T	c.(817-819)ttC>ttT	p.F273F	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AGAGGGTGAGGAACTTGCCCT	0.443000														32			23		0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42219036	42219036	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:42219036C>T	uc002orl.3	+	2	692	c.571C>T	c.(571-573)Ctg>Ttg	p.L191L	CEACAM5_uc010ehz.1_Silent_p.L191L|CEACAM5_uc002orj.1_Silent_p.L191L	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	191	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CAGTCCCAGGCTGCAGCTGTC	0.532000														99			65		0	0	1	0	0
ACTR3B	57180	broad.mit.edu	37	7	152551575	152551575	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:152551575G>A	uc003wle.1	+	11	1311	c.1194G>A	c.(1192-1194)aaG>aaA	p.K398K	ACTR3B_uc003wlf.1_Silent_p.K328K|ACTR3B_uc003wlg.1_Silent_p.K310K|ACTR3B_uc011kvp.1_Silent_p.K310K	NM_020445	NP_065178	Q9P1U1	ARP3B_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog B (yeast) (ACTR3B), transcript variant 1, mRNA.	398					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	ATP binding|actin binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		ACACCAAGAAGGACTATGAAG	0.532000														67			17		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169783671	169783671	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:169783671G>A	uc002ueo.1	-	25	3739	c.3613C>T	c.(3613-3615)Cca>Tca	p.P1205S	ABCB11_uc010zda.1_Missense_Mutation_p.P623S|ABCB11_uc010zdb.1_Missense_Mutation_p.P681S	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1205	ABC transporter 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTCACCTCTGGGAGTGACATG	0.453000														96			37		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35641692	35641692	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:35641692G>A	uc003jjo.3	+	2	432	c.321G>A	c.(319-321)aaG>aaA	p.K107K	SPEF2_uc003jjn.1_Silent_p.K107K|SPEF2_uc003jjq.4_Silent_p.K107K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	107					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCAGAAAAAGAAGAAAAGTG	0.408000														47			19		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12120946	12120946	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:12120946T>C	uc003nac.3	+	3	1097	c.918T>C	c.(916-918)ggT>ggC	p.G306G	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	306					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GGTGTTCAGGTTTCACAGGAT	0.413000														29			46		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140277683	140277683	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:140277683G>A	uc003etn.3	+	11	2215	c.2025G>A	c.(2023-2025)ggG>ggA	p.G675G		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	675					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding	p.P674P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AAGCCCCCGGGGACGTGAAAA	0.498000										HNSCC(16;0.037)				8			25		0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99358477	99358477	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:99358477C>T	uc001vno.3	-	15	1257	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	394					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	ATTTGGACTTCGTTTCCTTTG	0.378000														15			10		0	0	1	0	0
GUCA1A	2978	broad.mit.edu	37	6	42147122	42147122	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:42147122C>T	uc003orx.3	+	5	1232	c.587C>T	c.(586-588)gCc>gTc	p.A196V	GUCA1A_uc011duo.2_Non-coding_Transcript|GUCA1A_uc010jxt.3_Missense_Mutation_p.A196V	NM_000409	NP_000400	P43080	GUC1A_HUMAN	Homo sapiens guanylate cyclase activator 1A (retina) (GUCA1A), mRNA.	196					signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCTGACGAGGCCGCTGAGGCA	0.632000														19			5		0	0	1	0	0
C10orf54	64115	broad.mit.edu	37	10	73511435	73511435	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:73511435G>A	uc001jsd.3	-	5	1029	c.888C>T	c.(886-888)ttC>ttT	p.F296F	CDH23_uc001jrx.4_Intron|C10orf54_uc001jse.3_Silent_p.F164F	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	Homo sapiens chromosome 10 open reading frame 54 (C10orf54), mRNA.	296						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CCAGGGATGGGAAGAAGACGT	0.622000														36			12		0	0	1	0	0
POLG2	11232	broad.mit.edu	37	17	62492550	62492550	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:62492550C>T	uc002jei.3	-	0	635	c.537G>A	c.(535-537)ggG>ggA	p.G179G	POLG2_uc010deg.2_Silent_p.G179G	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	Homo sapiens polymerase (DNA directed), gamma 2, accessory subunit (POLG2), nuclear gene encoding mitochondrial protein, mRNA.	179					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CCCGTAGTTTCCCAGAAGTTT	0.453000														105			32		0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32475771	32475771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:32475771G>A	uc002roi.3	-	3	1423	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	NLRC4_uc021vfq.1_Missense_Mutation_p.R388W|NLRC4_uc002roj.2_Missense_Mutation_p.R388W|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	388	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCCAGGCTCCGAATGAAGTCA	0.473000														76			18		0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61468541	61468541	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:61468541C>T	uc002ydm.3	+	29	1713	c.1710C>T	c.(1708-1710)tcC>tcT	p.S570S	COL9A3_uc002ydn.3_Silent_p.S64S	NM_001853	NP_001844	Q14050	CO9A3_HUMAN	Homo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA.	570	Triple-helical region 2 (COL2).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CCCCAGGCTCCATTGGTCACC	0.687000														156			24		0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127768717	127768717	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:127768717C>T	uc011ebs.2	-	4	1083	c.747G>A	c.(745-747)acG>acA	p.T249T	KIAA0408_uc003qbc.3_Silent_p.T249T|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_5'Flank|KIAA0408_uc003qbb.3_Silent_p.T132T	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	249							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CACATTTTTTCGTAGAATTGC	0.388000														16			24		0	0	1	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247269	142247269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142247269C>T	uc003vyd.4	-	1	212	c.187G>A	c.(187-189)Gag>Aag	p.E63K	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		ATTAGAAACTCTGGGCCCTGC	0.527000														49			21		0	0	1	0	0
KRTAP19-4	337971	broad.mit.edu	37	21	31869245	31869245	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:31869245G>A	uc011acz.2	-	0	184	c.184C>T	c.(184-186)Cta>Tta	p.L62L		NM_181610	NP_853641	Q3LI73	KR194_HUMAN	Homo sapiens keratin associated protein 19-4 (KRTAP19-4), mRNA.	62						intermediate filament				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GATTTCAGTAGAATTGAGAAT	0.453000														100			39		0	0	1	0	0
P4HA2	8974	broad.mit.edu	37	5	131554251	131554251	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:131554251G>A	uc003kwh.3	-	1	633	c.69C>T	c.(67-69)ttC>ttT	p.F23F	P4HA2_uc003kwg.3_Silent_p.F23F|P4HA2_uc003kwi.3_Silent_p.F23F|P4HA2_uc003kwk.3_Silent_p.F23F|P4HA2_uc003kwl.3_Silent_p.F23F|P4HA2_uc003kwj.3_Silent_p.F23F	NM_004199	NP_004190	O15460	P4HA2_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II (P4HA2), transcript variant 1, mRNA.	23						endoplasmic reticulum lumen	L-ascorbic acid binding|electron carrier activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TAGAGGTGAAGAATTCGGCCT	0.527000														6			14		0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49230093	49230093	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:49230093C>T	uc002pki.3	-	7	2273	c.2076G>A	c.(2074-2076)ctG>ctA	p.L692L	RASIP1_uc002pkh.3_5'Flank	NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Homo sapiens Ras interacting protein 1 (RASIP1), mRNA.	692	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		TGACCTCATCCAGGAGGGCCA	0.517000														78			18		0	0	1	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283933	151283933	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:151283933C>T	uc004ffj.3	-	2	252	c.80G>A	c.(79-81)gGt>gAt	p.G27D	MAGEA5_uc022cgy.1_Missense_Mutation_p.G27D	NM_021049	NP_066387	P43359	MAGA5_HUMAN	Homo sapiens melanoma antigen family A, 5 (MAGEA5), mRNA.	27	MAGE.							p.G27V(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCTGCACACCCACCAGGCC	0.627000														20			35		0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56651670	56651670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:56651670C>T	uc010xeg.2	+	9	4075	c.3878C>T	c.(3877-3879)tCc>tTc	p.S1293F	ZNF532_uc002lhp.3_Missense_Mutation_p.S1291F|ZNF532_uc002lho.3_Missense_Mutation_p.S1293F|ZNF532_uc002lhr.3_Missense_Mutation_p.S1291F|ZNF532_uc002lhs.3_Missense_Mutation_p.S1291F|ZNF532_uc010xeh.2_Missense_Mutation_p.S381F	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	1293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TTCATCAAATCCAAAAGGATG	0.433000														10			16		0	0	1	0	0
LMBR1L	55716	broad.mit.edu	37	12	49495066	49495066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49495066G>A	uc001rth.4	-	12	1391	c.1049C>T	c.(1048-1050)tCc>tTc	p.S350F	LMBR1L_uc001rtg.4_Missense_Mutation_p.S345F|LMBR1L_uc001rti.4_Intron	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN	Homo sapiens limb region 1 homolog (mouse)-like (LMBR1L), mRNA.	350					endocytosis	integral to membrane|plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGCACCAAAGGAGCCCAGCTT	0.552000														44			24		0	0	1	0	0
NR1D2	9975	broad.mit.edu	37	3	24009368	24009368	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:24009368G>T	uc003ccs.2	+	6	1716	c.1397G>T	c.(1396-1398)gGa>gTa	p.G466V	NR1D2_uc010hfd.2_Non-coding_Transcript|NR1D2_uc011awk.1_Missense_Mutation_p.G391V	NM_005126	NP_001138897	Q14995	NR1D2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 2 (NR1D2), transcript variant 1, mRNA.	466					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TTTTTAAGTGGAAAGAAATAT	0.368000														54			12		3.27435e-08	3.28972e-08	1	1	0
SNTG2	54221	broad.mit.edu	37	2	1251210	1251210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:1251210C>T	uc002qwq.3	+	11	1129	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	SNTG2_uc010ewi.3_Missense_Mutation_p.P207S	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	334	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TTTCAGCACTCCTCCGGTAAG	0.547000														18			40		0	0	1	0	0
MMP7	4316	broad.mit.edu	37	11	102394020	102394020	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:102394020T>C	uc001phb.3	-	4	773	c.726A>G	c.(724-726)caA>caG	p.Q242Q		NM_002423	NP_002414	P09237	MMP7_HUMAN	Homo sapiens matrix metallopeptidase 7 (matrilysin, uterine) (MMP7), mRNA.	242					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		GTTTAAAATTTTGGGGATCTC	0.353000														24			11		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11648297	11648297	+	Missense_Mutation	SNP	C	T	T	rs149674795		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:11648297C>T	uc002gne.3	+	30	6363	c.6295C>T	c.(6295-6297)Ccc>Tcc	p.P2099S	DNAH9_uc010coo.3_Missense_Mutation_p.P1393S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2099					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P2099S(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGACCTCTTTCCCGCCCTGGA	0.557000														16			47		0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71576895	71576895	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:71576895C>T	uc002shx.3	+	1	1134	c.811C>T	c.(811-813)Caa>Taa	p.Q271*	ZNF638_uc010fec.2_Nonsense_Mutation_p.Q377*|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Nonsense_Mutation_p.Q271*|ZNF638_uc002shz.3_Nonsense_Mutation_p.Q271*|ZNF638_uc002shy.3_Nonsense_Mutation_p.Q271*|ZNF638_uc002sia.3_Nonsense_Mutation_p.Q271*|ZNF638_uc002sib.1_Nonsense_Mutation_p.Q271*	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	271					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CGTATTTCGCCAAATGGACTT	0.433000														138			24		0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6077561	6077561	+	Silent	SNP	C	T	T	rs34569233	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:6077561C>T	uc002wmr.3	-	7	1866	c.1077G>A	c.(1075-1077)gcG>gcA	p.A359A	FERMT1_uc002wmq.3_5'Flank|FERMT1_uc010gbt.3_Silent_p.A102A|FERMT1_uc002wms.3_Silent_p.A359A|FERMT1_uc002wmt.3_Silent_p.A102A	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	359	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						AAAGGCTGTCCGCTTTTCCAC	0.403000														146			36		0	0	1	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27799045	27799045	+	Silent	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:27799045A>T	uc001ric.2	+	4	698	c.321A>T	c.(319-321)gcA>gcT	p.A107A	PPFIBP1_uc001rhz.2_Silent_p.A107A|PPFIBP1_uc010sjr.1_5'UTR|PPFIBP1_uc001rib.2_Silent_p.A107A|PPFIBP1_uc001ria.3_Silent_p.A107A|PPFIBP1_uc001rid.2_5'UTR	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.	107					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AAAGGCTGGCACGTTTAGAAA	0.383000														10			6		0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36758296	36758297	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:36758296_36758297CC>TT	uc001cae.4	+	6	2240_2241	c.2016_2017CC>TT	c.(2014-2019)agccca>agTTca	p.P673S	THRAP3_uc001caf.4_Missense_Mutation_p.P673S	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	673					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACAAGAAAAGCCCAGAGATACA	0.411000			T	USP6	aneurysmal bone cysts									45			29		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921237	24921237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:24921237C>T	uc001ywo.3	+	0	697	c.223C>T	c.(223-225)Cct>Tct	p.P75S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	75					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GTGTCCTCTCCCTCGGGCTGC	0.711000														43			13		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126004123	126004123	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:126004123G>A	uc001uhe.1	+	3	1238	c.1230G>A	c.(1228-1230)gaG>gaA	p.E410E	TMEM132B_uc021rgl.1_Silent_p.E300E	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	410						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCGTCTCCGAGATCTTCGTCA	0.517000														87			21		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96707561	96707561	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:96707561C>T	uc001kka.4	+	3	532	c.507C>T	c.(505-507)atC>atT	p.I169I	CYP2C9_uc009xut.3_Silent_p.I169I	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	169					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CCACTTTCATCCTGGGCTGTG	0.313000														44			38		0	0	1	0	0
EGLN1	54583	broad.mit.edu	37	1	231506358	231506358	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:231506358G>A	uc001huv.2	-	2	4254	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	EGLN1_uc001huu.3_Silent_p.F68F	NM_022051	NP_071334	Q9GZT9	EGLN1_HUMAN	Homo sapiens egl nine homolog 1 (C. elegans) (EGLN1), mRNA.	366	Fe2OG dioxygenase.				negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	GGTCAGACCAGAAAAACAGCA	0.423000														43			61		0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57972039	57972039	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:57972039G>A	uc001sor.1	+	22	2660	c.2452G>A	c.(2452-2454)Gaa>Aaa	p.E818K	KIF5A_uc010srr.1_Missense_Mutation_p.E729K	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	818					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AATGGAGCCCGAAGACAGTGG	0.512000														113			32		0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132552948	132552948	+	Silent	SNP	G	A	A	rs111394662		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:132552948G>A	uc003kyn.1	-	12	1799	c.1581C>T	c.(1579-1581)gtC>gtT	p.V527V	FSTL4_uc003kym.1_Silent_p.V176V	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	527						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTGGATGTCGACCACAAGGA	0.502000														31			62		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195518009	195518009	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:195518009G>T	uc021xjp.1	-	1	598	c.442C>A	c.(442-444)Ctt>Att	p.L148I	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.L30I	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	153					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGTTTCCAAGAGTGGAGTCT	0.458000														66			37		6.97489e-18	7.0473e-18	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38690623	38690623	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:38690623G>A	uc021yzh.1	+	1	147	c.38G>A	c.(37-39)gGa>gAa	p.G13E	DNAH8_uc003ooe.2_5'UTR	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						CCTTCTGAGGGAGCAGAGGCT	0.567000														20			5		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103577	53103577	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:53103577G>A	uc003tpz.3	+	0	229	c.213G>A	c.(211-213)ccG>ccA	p.P71P		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	71								p.R70S(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGGGCGCCCGGTGCCCAGCA	0.716000														25			24		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135738420	135738420	+	Silent	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:135738420T>A	uc002tue.1	-	8	3922	c.3891A>T	c.(3889-3891)gcA>gcT	p.A1297A	YSK4_uc002tuf.1_Silent_p.A479A|YSK4_uc010fnc.1_Silent_p.A431A|YSK4_uc010fnd.1_Silent_p.A1184A|YSK4_uc010zbg.1_Silent_p.A429A|YSK4_uc021vpz.1_Silent_p.A158A|YSK4_uc002tuh.4_Silent_p.A1025A|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.	1297	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)		CAAAGTCTGCTGCATTTTCTG	0.512000														21			7		0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87285767	87285767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:87285767C>T	uc004aoa.1	+	3	1042	c.104C>T	c.(103-105)tCc>tTc	p.S35F	NTRK2_uc004anv.1_Missense_Mutation_p.S35F|NTRK2_uc004any.1_Missense_Mutation_p.S35F|NTRK2_uc004anz.1_Missense_Mutation_p.S35F|NTRK2_uc004aob.1_Missense_Mutation_p.S35F|NTRK2_uc011lsz.2_Missense_Mutation_p.S35F|NTRK2_uc011lta.2_Missense_Mutation_p.S35F|NTRK2_uc011ltb.1_5'Flank	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	35	LRRNT.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TGTCCCACGTCCTGCAAATGC	0.602000										TSP Lung(25;0.17)				31			19		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459508	107459508	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:107459508G>A	uc002tdq.3	-	1	1045	c.926C>T	c.(925-927)tCc>tTc	p.S309F	ST6GAL2_uc002tdr.3_Missense_Mutation_p.S309F|ST6GAL2_uc002tds.3_Missense_Mutation_p.S309F	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	309					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTCGCCCAAGGAAGAGTTGAG	0.682000														5			8		0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46135438	46135438	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:46135438C>T	uc003oxz.1	-	1	770	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	ENPP5_uc010jzc.1_Missense_Mutation_p.E188K|ENPP5_uc011dvz.1_Missense_Mutation_p.E94K|ENPP5_uc003oya.1_Missense_Mutation_p.E188K	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	188						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TCAGGGTCTTCCCAATAGAGA	0.413000														50			34		0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153924114	153924114	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:153924114G>A	uc021pab.1	-	10	1185	c.1026C>T	c.(1024-1026)tcC>tcT	p.S342S	CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_Intron	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	342	Ser-rich.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	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)			AGGACTGCAGGGATGGGTGGC	0.577000														61			58		0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16746992	16746992	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:16746992G>A	uc010exm.2	-	2	262	c.114C>T	c.(112-114)atC>atT	p.I38I	FAM49A_uc002rck.2_Silent_p.I38I	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	38						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			GGACGGCGCTGATCTGGTTCC	0.507000														115			4		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129704298	129704298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:129704298C>T	uc021zfb.1	+	34	5096	c.4991C>T	c.(4990-4992)aCc>aTc	p.T1664I	LAMA2_uc003qbn.3_Missense_Mutation_p.T1664I|LAMA2_uc003qbo.3_Missense_Mutation_p.T1664I	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1664	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGCGAGCAGACCGGACAGGAT	0.458000														21			14		0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846078	55846078	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:55846078C>T	uc001sgz.1	+	0	81	c.81C>T	c.(79-81)atC>atT	p.I27I		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TGCTTTTTATCTTTCTATTTC	0.408000														53			14		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404375	20404375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20404375G>A	uc001vwj.2	+	0	609	c.550G>A	c.(550-552)Gtg>Atg	p.V184M		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CCTTCCCTTGGTGATAGAGCT	0.453000														120			63		0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77245351	77245351	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:77245351C>T	uc004ecx.4	+	3	1393	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	ATP7A_uc004ecw.2_Silent_p.S411S	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	411	HMA 4.				ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TACGAGTCTCCCTTGCAAATA	0.413000														6			73		0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273161	125273161	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:125273161C>T	uc011lyv.2	+	0	81	c.81C>T	c.(79-81)ttC>ttT	p.F27F	OR1J2_uc004bmj.2_Silent_p.F27F	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						AGGCTGTGTTCTTCACCCTGT	0.592000														61			46		0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139278	3139278	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:3139278C>T	uc002ctv.1	-	4	2080	c.1992G>A	c.(1990-1992)caG>caA	p.Q664Q	ZSCAN10_uc002cty.1_Silent_p.Q325Q|ZSCAN10_uc002ctw.1_Silent_p.Q582Q|ZSCAN10_uc002ctx.1_Silent_p.Q592Q	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	664					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GGGGCTCGGCCTGCTCCTGCC	0.706000														7			4		0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22255733	22255733	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:22255733C>T	uc010ecx.3	+	1	295	c.126C>T	c.(124-126)ttC>ttT	p.F42F	ZNF257_uc010ecy.3_Silent_p.F10F	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACCTGGTCTTCCTGGGTGAGG	0.358000														76			26		0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27516389	27516389	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:27516389C>T	uc003xga.1	+	4	843	c.702C>T	c.(700-702)atC>atT	p.I234I	SCARA3_uc003xgb.1_Silent_p.I234I	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA.	234					UV protection|response to oxidative stress	Golgi membrane|collagen|endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CCGAGTGGATCCACGGGATCC	0.597000														28			17		0	0	1	0	0
H2AFY2	55506	broad.mit.edu	37	10	71835457	71835457	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:71835457C>T	uc001jqm.3	+	1	502	c.43C>T	c.(43-45)Cgt>Tgt	p.R15C		NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	Homo sapiens H2A histone family, member Y2 (H2AFY2), mRNA.	15	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	p.R15S(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						CAAGCTGTCCCGTTCAGCTAG	0.552000														28			54		0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40701717	40701717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:40701717C>T	uc001cfc.4	+	7	1374	c.1343C>T	c.(1342-1344)cCa>cTa	p.P448L	RLF_uc001cfd.4_Missense_Mutation_p.P139L	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	448					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GCACCGGTTCCAAATTCTCTT	0.373000														9			55		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324048	31324048	+	Silent	SNP	C	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:31324048C>G	uc010dmg.1	+	11	4291	c.4236C>G	c.(4234-4236)acC>acG	p.T1412T	ASXL3_uc002kxq.2_Silent_p.T1119T	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CACACCCGACCGTCGCAATGT	0.488000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		88			28		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347637	140347637	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140347637G>A	uc003lii.3	+	0	1891	c.1286G>A	c.(1285-1287)cGa>cAa	p.R429Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.R429Q	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	429	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R429R(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTGGACCGAGAGCGGGTG	0.572000														88			28		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506664	11506664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11506664C>T	uc001qzw.1	-	2	410	c.373G>A	c.(373-375)Gga>Aga	p.G125R	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	125	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGTTGCCTCCTTGTGGGGGT	0.602000														462			55		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18788706	18788706	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:18788706G>A	uc003sui.3	+	12	2029	c.1988G>A	c.(1987-1989)cGa>cAa	p.R663Q	HDAC9_uc003sue.3_Missense_Mutation_p.R660Q|HDAC9_uc011jyd.2_Missense_Mutation_p.R660Q|HDAC9_uc003suh.3_Missense_Mutation_p.R660Q|HDAC9_uc003suj.3_Missense_Mutation_p.R619Q|HDAC9_uc003sua.1_Missense_Mutation_p.R638Q|HDAC9_uc010kue.1_Missense_Mutation_p.R315Q	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	660	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor 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|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.R663Q(3)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CATGCTGGACGAATACAGAGT	0.433000														50			5		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32638597	32638597	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:32638597G>A	uc002yow.1	-	4	1164	c.692C>T	c.(691-693)tCc>tTc	p.S231F	TIAM1_uc011adk.1_Missense_Mutation_p.S231F|TIAM1_uc011adl.1_Missense_Mutation_p.S231F|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	231					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GTCACCCAAGGAATTGGCTCT	0.562000														84			24		0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39633342	39633342	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:39633342G>A	uc002hws.3	-	6	1377	c.1334C>T	c.(1333-1335)cCc>cTc	p.P445L		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	445	Tail.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CACACAAATGGGGCGGGGGCT	0.612000														79			11		0	0	1	0	0
TTLL3	26140	broad.mit.edu	37	3	9845661	9845661	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:9845661C>T	uc021wsu.1	+	4	527	c.522C>T	c.(520-522)gcC>gcT	p.A174A	TTLL3_uc003btb.2_Silent_p.A65A|TTLL3_uc003bta.2_Silent_p.A65A|TTLL3_uc003bsz.2_Silent_p.A155A|TTLL3_uc003btd.4_Intron|TTLL3_uc003btc.2_Intron	NM_001198780	NP_001185709	Q9Y4R7	TTLL3_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 4, 20kDa (ARPC4), transcript variant 4, mRNA.	0	TTL.		E -> K (in dbSNP:rs3806669).		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)					CAGTCAATGCCCGTGCCCGCA	0.488000														65			40		0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129159108	129159108	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:129159108C>T	uc022cdu.1	+	5	3876	c.3832C>T	c.(3832-3834)Cgc>Tgc	p.R1278C	BCORL1_uc010nrd.1_Intron|BCORL1_uc004evc.2_Missense_Mutation_p.R40C	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1278					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CACCCAGTATCGCAGCCACCA	0.607000														4			43		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133941393	133941393	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:133941393C>T	uc003ytw.3	+	22	4813	c.4772C>T	c.(4771-4773)tCc>tTc	p.S1591F	TG_uc010mdw.3_Missense_Mutation_p.S350F|TG_uc011ljb.2_Missense_Mutation_p.S24F|TG_uc003ytx.1_Non-coding_Transcript	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1591					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCTGTCAGATCCAAAGTTCCT	0.453000														40			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584073	179584073	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179584073G>A	uc021vsy.1	-	79	20537	c.20312C>T	c.(20311-20313)tCa>tTa	p.S6771L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3432L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7698	Ig-like 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S6771L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGCCAACTGAAATCGGGGC	0.502000														58			21		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151970854	151970854	+	Silent	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:151970854G>T	uc003wla.3	-	6	1167	c.948C>A	c.(946-948)acC>acA	p.T316T		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	316			T -> S (in dbSNP:rs10454320).		intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.T316S(1)|p.G315G(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AATCCTGAAAGGTGCCGGCTC	0.433000			N		medulloblastoma									185			7		0.000157383	0.000157619	1	1	0
CSMD1	64478	broad.mit.edu	37	8	3245068	3245068	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:3245068G>A	uc022aqr.1	-	17	3120	c.2730C>T	c.(2728-2730)ccC>ccT	p.P910P	CSMD1_uc011kwj.2_Silent_p.P303P|CSMD1_uc003wqe.3_Silent_p.P67P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	911	Sushi 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACAGACGAGGGGCTCGTCGT	0.597000														7			3		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61621690	61621690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:61621690C>T	uc002jay.3	+	11	2502	c.2422C>T	c.(2422-2424)Ccc>Tcc	p.P808S	KCNH6_uc010wpl.2_Missense_Mutation_p.P649S|KCNH6_uc010wpm.2_Missense_Mutation_p.P772S|KCNH6_uc002jaz.1_Missense_Mutation_p.P719S	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	808					regulation of transcription, DNA-dependent|signal transduction			p.S807C(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AAGGCACAGCCCCCAAAGCCC	0.607000														22			21		0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41844996	41844996	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:41844996G>A	uc010lxb.3	-	3	1230	c.686C>T	c.(685-687)tCc>tTc	p.S229F	KAT6A_uc010lxc.3_Missense_Mutation_p.S229F|KAT6A_uc003xon.4_Missense_Mutation_p.S229F|KAT6A_uc010lxd.3_Missense_Mutation_p.S229F	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	229					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GTCGGCACAGGAGATGAGTTC	0.423000														109			63		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80782952	80782952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:80782952G>A	uc010ysh.2	+	10	1680	c.1675G>A	c.(1675-1677)Gag>Aag	p.E559K	CTNNA2_uc010yse.2_Missense_Mutation_p.E559K|CTNNA2_uc010ysf.2_Missense_Mutation_p.E559K|CTNNA2_uc010ysg.2_Missense_Mutation_p.E559K|CTNNA2_uc010ysi.2_Missense_Mutation_p.E191K	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	559					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGCTGAGATGGAGAACTATGA	0.507000														24			45		0	0	1	0	0
BEND6	221336	broad.mit.edu	37	6	56846671	56846671	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:56846671G>A	uc010kab.3	+	1	649	c.63G>A	c.(61-63)agG>agA	p.R21R	BEND6_uc003pdg.2_Non-coding_Transcript	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN	Homo sapiens BEN domain containing 6 (BEND6), mRNA.	21										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						AAGGAAAGAGGAAAAGAACAG	0.353000														48			17		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17084422	17084422	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:17084422C>T	uc011awc.2	+	4	3147	c.3051C>T	c.(3049-3051)atC>atT	p.I1017I	PLCL2_uc011awd.2_Silent_p.I899I	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	1025					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ATGAAAAGATCGTACATTGTC	0.368000														68			23		0	0	1	0	0
EDN2	1907	broad.mit.edu	37	1	41948231	41948231	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:41948231G>A	uc001cgx.3	-	2	322	c.250C>T	c.(250-252)Ccg>Tcg	p.P84S	EDN2_uc001cgu.3_Non-coding_Transcript|EDN2_uc001cgv.3_Non-coding_Transcript|EDN2_uc009vwh.3_5'UTR|EDN2_uc001cgw.3_Non-coding_Transcript|EDN2_uc009vwi.3_Intron|EDN2_uc009vwj.3_Intron	NM_001956	NP_001947	P20800	EDN2_HUMAN	Homo sapiens endothelin 2 (EDN2), mRNA.	84					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity			endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGTCTTGGCGGGTTTCCCAGG	0.617000														3			39		0	0	1	0	0
SCUBE3	222663	broad.mit.edu	37	6	35207537	35207537	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:35207537G>A	uc003okf.1	+	7	844	c.838G>A	c.(838-840)Gag>Aag	p.E280K	SCUBE3_uc003okg.1_Missense_Mutation_p.E279K|SCUBE3_uc003okh.1_Missense_Mutation_p.E167K	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	280	EGF-like 7; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	p.D279H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AGATATAGATGAGTGCCGCTT	0.453000														118			29		0	0	1	0	0
FDXR	2232	broad.mit.edu	37	17	72862340	72862340	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:72862340G>A	uc010wrl.2	-	4	636	c.549C>T	c.(547-549)gcC>gcT	p.A183A	FDXR_uc010wri.2_Silent_p.A88A|FDXR_uc010wrj.2_Silent_p.A138A|FDXR_uc002jlw.3_5'UTR|FDXR_uc002jlx.3_Silent_p.A140A|FDXR_uc002jly.3_Silent_p.A140A|FDXR_uc010wrk.2_Silent_p.A171A|FDXR_uc010wrm.2_Silent_p.A100A|FDXR_uc002jlz.3_Silent_p.A132A|FDXR_uc002jmb.3_Non-coding_Transcript	NM_024417	NP_077728	P22570	ADRO_HUMAN	Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	140					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					GAATTTCCAGGGCCCGATGGT	0.642000														60			19		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262171	140262171	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140262171G>A	uc003lif.2	+	0	318	c.318G>A	c.(316-318)ctG>ctA	p.L106L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.L106L|PCDHAC2_uc003lid.3_Silent_p.L106L	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	121	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCCACCTGGAGGTGATCG	0.537000														160			52		0	0	1	0	0
SPESP1	246777	broad.mit.edu	37	15	69238782	69238782	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:69238782G>A	uc002arn.2	+	1	1063	c.909G>A	c.(907-909)ctG>ctA	p.L303L	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Intron|NOX5_uc002arp.2_Intron|NOX5_uc010bid.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	Homo sapiens sperm equatorial segment protein 1 (SPESP1), mRNA.	303					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						TTAACATGCTGTGTAATTCTA	0.299000														29			31		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3265630	3265630	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:3265630C>T	uc022aqr.1	-	13	2252	c.1862G>A	c.(1861-1863)cGa>cAa	p.R621Q	CSMD1_uc011kwj.2_Missense_Mutation_p.R14Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	622	CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TAGGTGAATTCGACTTCCTGG	0.413000														16			16		0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57381809	57381809	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:57381809G>A	uc001nkp.1	+	7	1449	c.1258G>A	c.(1258-1260)Gat>Aat	p.D420N	SERPING1_uc010rju.1_Missense_Mutation_p.D368N|SERPING1_uc010rjv.1_Missense_Mutation_p.D425N|SERPING1_uc001nkr.1_Missense_Mutation_p.D420N|SERPING1_uc001nks.1_Missense_Mutation_p.D111N	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	420					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						AGAATTCTTCGATTTTTCTTA	0.483000														68			59		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126371727	126371727	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:126371727G>A	uc003ifj.4	+	8	9556	c.9556G>A	c.(9556-9558)Gat>Aat	p.D3186N	FAT4_uc011cgp.2_Missense_Mutation_p.D1484N|FAT4_uc003ifi.1_Missense_Mutation_p.D664N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3186	Cadherin 30.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D3186Y(3)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAATGTGATTGATGTGAATGA	0.408000														65			16		0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93598108	93598108	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:93598108G>A	uc003drb.4	-	12	1884	c.1543C>T	c.(1543-1545)Cgt>Tgt	p.R515C	PROS1_uc010hoo.3_Missense_Mutation_p.R384C|PROS1_uc003dqz.4_Missense_Mutation_p.R384C	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	515	Laminin G-like 2.		R -> C (in PROS1D; secretion of the mutant markedly decreased compared with that of the wild-type; intracellular degradation and impaired secretion of the mutant).|R -> P (in PROS1D).		leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.R515H(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GTGGATGGACGAATATTCAAG	0.433000														78			31		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92988151	92988151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:92988151C>T	uc022axs.1	-	9	1694	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K	RUNX1T1_uc003yfc.2_Missense_Mutation_p.E417K|RUNX1T1_uc010mam.3_Missense_Mutation_p.E417K|RUNX1T1_uc003yfe.2_Missense_Mutation_p.E407K|RUNX1T1_uc003yfd.3_Missense_Mutation_p.E444K|RUNX1T1_uc022axo.1_Missense_Mutation_p.E444K|RUNX1T1_uc010mao.3_Missense_Mutation_p.E417K|RUNX1T1_uc011lgi.2_Missense_Mutation_p.E455K|RUNX1T1_uc022axp.1_Missense_Mutation_p.E444K|RUNX1T1_uc022axq.1_Missense_Mutation_p.E444K|RUNX1T1_uc022axr.1_Missense_Mutation_p.E444K|RUNX1T1_uc022axt.1_Missense_Mutation_p.E444K|RUNX1T1_uc022axu.1_Missense_Mutation_p.E424K|RUNX1T1_uc022axv.1_Missense_Mutation_p.E444K|RUNX1T1_uc010man.2_Missense_Mutation_p.E69K|RUNX1T1_uc003yfb.2_Missense_Mutation_p.E407K	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.	444					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)			TTCCAGATCTCCTCTGGCACG	0.478000														112			39		0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248344280	248344280	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248344280C>T	uc010pzf.2	+	0	993	c.993C>T	c.(991-993)tcC>tcT	p.S331S		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	331					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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;0.0245)			TTCTAATATCCATCTTTTTCT	0.313000														79			72		0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75298411	75298411	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:75298411G>A	uc001owu.3	-	3	2200	c.2135C>T	c.(2134-2136)tCc>tTc	p.S712F		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	Homo sapiens microtubule-associated protein 6 (MAP6), transcript variant 1, mRNA.	712	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					ATTCTTCACGGACTCGGGGAC	0.498000														120			34		0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118365049	118365049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:118365049G>A	uc001lco.1	+	11	1342	c.1324G>A	c.(1324-1326)Gga>Aga	p.G442R	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.G442R	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	442	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TGTGCAAAAGGGAGAAGAGAA	0.408000														31			7		0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2293603	2293603	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:2293603C>T	uc002wfx.4	+	4	697	c.600C>T	c.(598-600)cgC>cgT	p.R200R		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	200					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGAATTTCCGCCGTGACGCTG	0.463000														87			17		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183651392	183651392	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:183651392T>A	uc003ivd.1	+	13	2700	c.2625T>A	c.(2623-2625)gaT>gaA	p.D875E	ODZ3_uc003ive.1_Missense_Mutation_p.D281E	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	875					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TGACTGCTGATGGAACTCCAC	0.428000														50			55		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55316320	55316320	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55316320G>A	uc010yfl.2	+	2	176	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Intron|KIR3DL2_uc002qhf.3_Intron|KIR3DL2_uc002qhg.3_Missense_Mutation_p.R50Q|KIR3DL2_uc002qhi.3_Missense_Mutation_p.R50Q|KIR3DL2_uc021vbn.1_Missense_Mutation_p.R50Q|KIR3DL2_uc002qhh.3_Intron|KIR3DL2_uc002qhj.3_Missense_Mutation_p.R50Q|KIR3DL2_uc010esd.3_Missense_Mutation_p.R50Q|KIR3DL2_uc010ese.3_5'Flank	NM_002255	NP_002246	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.	143	Ig-like C2-type 1.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	p.R50Q(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GTGACTCTTCGGTGTCACTAT	0.547000														43			27		0	0	1	0	0
EFNA5	1946	broad.mit.edu	37	5	106762969	106762969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:106762969G>A	uc003kol.3	-	1	649	c.367C>T	c.(367-369)Ccc>Tcc	p.P123S	EFNA5_uc010jbr.1_Missense_Mutation_p.P123S	NM_001962	NP_001953	P52803	EFNA5_HUMAN	Homo sapiens ephrin-A5 (EFNA5), mRNA.	123					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		AGAGAAAAGGGAGTGAAGAGC	0.463000														11			22		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71493780	71493780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:71493780C>T	uc003kbw.4	+	4	4839	c.4598C>T	c.(4597-4599)cCt>cTt	p.P1533L	MAP1B_uc010iyw.1_Missense_Mutation_p.P1550L|MAP1B_uc010iyx.1_Missense_Mutation_p.P1407L|MAP1B_uc010iyy.1_Missense_Mutation_p.P1407L	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1533						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCAGCTACTCCTGTTGATGAG	0.473000														32			14		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13830773	13830773	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:13830773C>T	uc003jfd.2	-	35	6036	c.5994G>A	c.(5992-5994)ggG>ggA	p.G1998G		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1998	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGACGTATTTCCCGAGGCATC	0.488000									Kartagener syndrome					24			37		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44891418	44891418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:44891418G>A	uc010xxa.2	-	3	1053	c.1010C>T	c.(1009-1011)tCc>tTc	p.S337F	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.S330F	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	623					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						GTTGTGAAGGGAAGAGCTGCG	0.473000														71			21		0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202711822	202711822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:202711822G>A	uc009xag.3	-	17	2659	c.2543C>T	c.(2542-2544)tCt>tTt	p.S848F	KDM5B_uc001gyf.3_Missense_Mutation_p.S812F|KDM5B_uc001gyg.1_Missense_Mutation_p.S654F	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	812					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTGCGCAACAGAGGCACACTT	0.443000														55			65		0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922240	37922240	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:37922240C>T	uc002hsu.3	-	7	1395	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	IKZF3_uc002htd.3_Missense_Mutation_p.E411K|IKZF3_uc010cwd.3_Missense_Mutation_p.E302K|IKZF3_uc002hsv.3_Missense_Mutation_p.E372K|IKZF3_uc010cwe.3_Missense_Mutation_p.E311K|IKZF3_uc010cwf.3_Missense_Mutation_p.E263K|IKZF3_uc010cwg.3_Missense_Mutation_p.E224K|IKZF3_uc002hsw.3_Missense_Mutation_p.E406K|IKZF3_uc002hsx.3_Missense_Mutation_p.E389K|IKZF3_uc002hsy.3_Missense_Mutation_p.E406K|IKZF3_uc002hsz.3_Missense_Mutation_p.E350K|IKZF3_uc002hta.3_Missense_Mutation_p.E367K|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.E358K|IKZF3_uc002htc.3_Missense_Mutation_p.E198K|IKZF3_uc010wel.2_Missense_Mutation_p.E198K	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	445					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ACCTCCCCTTCCTTGTTGATC	0.567000														106			52		0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77227570	77227570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:77227570C>T	uc010xfg.2	+	7	2533	c.2080C>T	c.(2080-2082)Ctt>Ttt	p.L694F	NFATC1_uc002lnc.1_Missense_Mutation_p.L694F|NFATC1_uc010xff.1_3'UTR|NFATC1_uc002lnd.3_Missense_Mutation_p.L694F|NFATC1_uc002lne.3_Missense_Mutation_p.L222F|NFATC1_uc010xfh.2_Missense_Mutation_p.L694F|NFATC1_uc010xfi.1_Missense_Mutation_p.L681F|NFATC1_uc010xfj.2_Missense_Mutation_p.L222F|NFATC1_uc002lnf.3_Missense_Mutation_p.L681F|NFATC1_uc002lng.3_Missense_Mutation_p.L681F|NFATC1_uc010xfk.2_Missense_Mutation_p.L681F	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	694					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		TTTCACCTACCTTCCCGCCAA	0.537000														12			14		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219873831	219873832	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:219873831_219873832CC>TT	uc002vjl.1	-	28	4695_4696	c.4611_4612GG>AA	c.(4609-4614)caggag>caAAag	p.E1538K		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1538						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTTCCACTCCTGCAGCTCCT	0.559000														37			15		0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146697106	146697106	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:146697106C>T	uc003ikn.3	-	9	2576	c.2528G>A	c.(2527-2529)aGa>aAa	p.R843K	ZNF827_uc003ikm.3_Missense_Mutation_p.R843K|ZNF827_uc010iox.3_Missense_Mutation_p.R493K|ZNF827_uc003ikl.3_5'UTR	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	843					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TTTGTATTTTCTTTCCTCTGG	0.463000														46			37		0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126210093	126210093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:126210093C>T	uc003qai.3	+	8	1262	c.893C>T	c.(892-894)cCt>cTt	p.P298L	NCOA7_uc010kes.3_Missense_Mutation_p.P298L|NCOA7_uc003qae.4_Missense_Mutation_p.P298L|NCOA7_uc010ket.3_Intron|NCOA7_uc003qah.3_Intron	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	Homo sapiens nuclear receptor coactivator 7 (NCOA7), transcript variant 1, mRNA.	298					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		AGTGACCTACCTCAGGATCTT	0.408000														22			19		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45303699	45303699	+	Splice_Site	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:45303699A>G	uc003jok.3	-	6	1643	c.1618_splice	c.e6+1	p.E540_splice		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	540						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTTTTTACTAACCTCCAAAGT	0.348000														43			12		0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57405110	57405110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:57405110C>T	uc004dvc.3	+	5	918	c.769C>T	c.(769-771)Ccc>Tcc	p.P257S		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	257						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						AGGTCAGTTTCCCTTGGCTGT	0.507000										HNSCC(52;0.14)				32			26		0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528262	20528262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20528262G>A	uc001vwn.1	+	0	59	c.59G>A	c.(58-60)cGa>cAa	p.R20Q		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R20Q(2)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTTTTTGGACGATGGGAACTT	0.363000														87			61		0	0	1	0	0
SPINT2	10653	broad.mit.edu	37	19	38779813	38779813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:38779813G>A	uc002ohr.2	+	3	808	c.373G>A	c.(373-375)Gat>Aat	p.D125N	SPINT2_uc002ohs.2_Missense_Mutation_p.D68N	NM_021102	NP_066925	O43291	SPIT2_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type, 2 (SPINT2), transcript variant a, mRNA.	125					cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCACTCCAGCGATATGTTCAA	0.557000														70			18		0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53453642	53453642	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53453642G>A	uc002qal.2	-	4	1737	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	ZNF816_uc010eqj.3_Intron|ZNF816_uc002qak.2_Intron|ZNF816_uc021uzc.1_Silent_p.F462F|ZNF816_uc002qam.2_Silent_p.F462F	NM_001031665	NP_001189386	Q0VGE8	ZN816_HUMAN	Homo sapiens zinc finger protein 816 (ZNF816), transcript variant 1, mRNA.	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ACTTCCGACTGAAACTCCTGC	0.408000														62			28		0	0	1	0	0
CDC5L	988	broad.mit.edu	37	6	44413592	44413592	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:44413592C>T	uc003oxl.3	+	14	2602	c.2292C>T	c.(2290-2292)ccC>ccT	p.P764P		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	764	Interaction with PLRG1.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGCTATTCCCCGGAGGCTAG	0.393000														45			35		0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147178	26147178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:26147178C>T	uc002dof.3	+	1	1372	c.980C>T	c.(979-981)tCc>tTc	p.S327F		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	327					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)		ATCGATGCTTCCTGGAGTGCC	0.542000														71			96		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227924863	227924863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:227924863G>A	uc021vxr.1	-	25	2254	c.2153C>T	c.(2152-2154)cCa>cTa	p.P718L	COL4A4_uc021vxs.1_Missense_Mutation_p.P718L	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	718	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)		AGGTGGACCTGGTATTTCCGC	0.443000														24			20		0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107564426	107564426	+	Missense_Mutation	SNP	G	A	A	rs74913556		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:107564426G>A	uc004bcl.3	-	33	5011	c.4607C>T	c.(4606-4608)tCc>tTc	p.S1536F		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	1536					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GACACCCAGGGAAAAGCCGCC	0.448000														11			10		0	0	1	0	0
E2F5	1875	broad.mit.edu	37	8	86115413	86115413	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:86115413G>A	uc003ycz.4	+	2	466	c.429G>A	c.(427-429)aaG>aaA	p.K143K	E2F5_uc003yda.4_Silent_p.K143K|E2F5_uc010mab.3_5'UTR	NM_001951	NP_001077058	Q15329	E2F5_HUMAN	Homo sapiens E2F transcription factor 5, p130-binding (E2F5), transcript variant 1, mRNA.	143	Dimerization (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TAGAACTGAAGGAAAGAGAAC	0.333000														5			23		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119726773	119726773	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:119726773C>T	uc002tln.1	+	1	267	c.135C>T	c.(133-135)tcC>tcT	p.S45S	MARCO_uc010yyf.1_5'UTR	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	45					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TGAACTTCTCCCTAGCTGTGG	0.577000														20			37		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106733271	106733271	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106733271C>T	uc021ser.1	-	876		c.21275G>A								Parts of antibodies, mostly variable regions.																		GATTGTTTCACCATCTTCAGG	0.517000														162			53		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	169099072	169099072	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:169099072C>T	uc011bpj.1	-	1	681	c.278G>A	c.(277-279)gGa>gAa	p.G93E	MECOM_uc003ffl.2_Missense_Mutation_p.G65E|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.G93E|MECOM_uc011bpl.1_Missense_Mutation_p.G93E	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	93							sequence-specific DNA binding transcription factor activity	p.K92E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGTCCATATTCCTAGTCCTGC	0.483000														72			23		0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32136356	32136356	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:32136356G>A	uc001rks.3	+	3	2881	c.2467G>A	c.(2467-2469)Gca>Aca	p.A823T		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	823										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			TGGACCAGTAGCAAGTACAGC	0.378000														39			9		0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124195299	124195299	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:124195299C>T	uc003ypv.3	+	1	2217	c.203C>T	c.(202-204)gCc>gTc	p.A68V	FAM83A_uc003ypw.3_Missense_Mutation_p.A68V|U3_uc022bai.1_5'Flank|FAM83A_uc003ypx.3_Missense_Mutation_p.A68V|FAM83A_uc003ypy.3_Missense_Mutation_p.A68V|FAM83A_uc003ypz.3_Missense_Mutation_p.A68V	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	68										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TCGGTGGAGGCCCAGTACATC	0.682000														17			24		0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	343565	343565	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:343565G>A	uc002cgp.2	-	7	2498	c.2109C>T	c.(2107-2109)ccC>ccT	p.P703P	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Silent_p.P703P	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	703	Interaction with HIPK2 (By similarity).|Interaction with PPP2CA.|Interaction with RNF111.				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GCTGGGTTAGGGGGTTGGGAG	0.682000														105			42		0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392009	178392009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:178392009G>A	uc003mjo.2	+	4	905	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	ZNF454_uc010jkz.2_Missense_Mutation_p.E202K|ZNF454_uc021yjc.1_Missense_Mutation_p.E202K	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AATTCATAATGAAAAAAATGC	0.348000														20			23		0	0	1	0	0
MUCL1	118430	broad.mit.edu	37	12	55251988	55251988	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:55251988T>G	uc001sgk.3	+	3	303	c.235T>G	c.(235-237)Tgg>Ggg	p.W79G		NM_058173	NP_477521	Q96DR8	MUCL1_HUMAN	Homo sapiens mucin-like 1 (MUCL1), mRNA.	79						extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						TTTACCCAAATGGGTTGGGGA	0.413000														71			49		0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141317036	141317036	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:141317036C>T	uc011chi.2	-	10	1304	c.1086G>A	c.(1084-1086)atG>atA	p.M362I	CLGN_uc003iii.3_Missense_Mutation_p.M362I	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	362					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GGTTATCTATCATGGGAGGTT	0.423000														55			21		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542620	55542620	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:55542620G>A	uc003xsd.1	+	3	6326	c.6178G>A	c.(6178-6180)Gaa>Aaa	p.E2060K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	2060					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)			TCAGACAAATGAAATCTTTAA	0.348000														22			9		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179337940	179337940	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:179337940C>G	uc001gmo.3	+	2	490	c.103C>G	c.(103-105)Cct>Gct	p.P35A	AXDND1_uc001gmn.2_Intron|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_5'UTR	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	35										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CTTAGGACTTCCTGAGCTAAA	0.363000														44			5		0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55726246	55726246	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:55726246C>T	uc010spj.2	+	0	762	c.762C>T	c.(760-762)ttC>ttT	p.F254F		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GCTGTATATTCATGTATGCTA	0.388000														43			9		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24508743	24508743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:24508743G>A	uc001iru.4	+	1	662	c.259G>A	c.(259-261)Gat>Aat	p.D87N	KIAA1217_uc001irs.3_Missense_Mutation_p.D7N|KIAA1217_uc001irt.4_Missense_Mutation_p.D87N|KIAA1217_uc010qcy.2_Missense_Mutation_p.D87N|KIAA1217_uc010qcz.2_Missense_Mutation_p.D87N	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	87					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ATCTGAGATGGATCGGAAGAG	0.527000														57			48		0	0	1	0	0
ZNF813	126017	broad.mit.edu	37	19	53994440	53994440	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53994440G>A	uc021uzf.1	+	0	230	c.134G>A	c.(133-135)gGa>gAa	p.G45E	ZNF813_uc010eqq.1_Intron|ZNF813_uc002qbu.2_Silent_p.R318R	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	Homo sapiens zinc finger protein 813 (ZNF813), mRNA.	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AAAGACATAGGAGAATTCATG	0.398000														70			23		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179454770	179454770	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179454770G>A	uc021vsy.1	-	252	54203	c.53978C>T	c.(53977-53979)tCa>tTa	p.S17993L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S11688L|TTN_uc021vta.1_Missense_Mutation_p.S11621L|TTN_uc021vtb.1_Missense_Mutation_p.S11496L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18920	Fibronectin type-III 30.						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)			AACGATGGCTGAACCTTGGGC	0.433000														30			36		0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55396030	55396030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:55396030G>A	uc003jqu.3	-	11	1977	c.1825C>T	c.(1825-1827)Ccc>Tcc	p.P609S	ANKRD55_uc003jqt.3_Missense_Mutation_p.P321S	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	Homo sapiens ankyrin repeat domain 55 (ANKRD55), mRNA.	608										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TCACTGGTGGGGTTGGCAGAA	0.448000														38			41		0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51329192	51329192	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51329192C>T	uc002ptl.3	-	4	662	c.631G>A	c.(631-633)Gga>Aga	p.G211R	KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.3_Missense_Mutation_p.G126R|KLK15_uc002ptn.3_3'UTR|KLK15_uc002pto.3_Missense_Mutation_p.G210R|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_3'UTR|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	211	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACCAGGGGTCCCCCAGAGTCA	0.557000														34			7		0	0	1	0	0
BBS4	585	broad.mit.edu	37	15	73016891	73016891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:73016891C>T	uc002avd.3	+	7	844	c.506C>T	c.(505-507)gCc>gTc	p.A169V	BBS4_uc010ukv.2_Missense_Mutation_p.A149V|BBS4_uc002avb.3_Missense_Mutation_p.A161V|BBS4_uc002avc.3_5'UTR|BBS4_uc010bja.3_5'UTR	NM_001252678	NP_001239607	Q96RK4	BBS4_HUMAN	Homo sapiens Bardet-Biedl syndrome 4 (BBS4), transcript variant 2, mRNA.	161	Interaction with PCM1.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						TTGCACAATGCCCTGAATCTT	0.403000									Bardet-Biedl syndrome					41			14		0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155208037	155208037	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155208037G>A	uc001fjh.3	-	5	815	c.649C>T	c.(649-651)Ccc>Tcc	p.P217S	GBA_uc021pau.1_Intron|GBA_uc010pfx.2_Missense_Mutation_p.P168S|GBA_uc010pfw.2_Missense_Mutation_p.P104S|GBA_uc001fjl.3_Missense_Mutation_p.P217S|GBA_uc001fjk.3_Missense_Mutation_p.P217S|GBA_uc010pfy.2_Missense_Mutation_p.P130S|GBA_uc009wqk.2_Missense_Mutation_p.P130S	NM_000157	NP_001165282	P04062	GLCM_HUMAN	Homo sapiens glucosidase, beta, acid (GBA), transcript variant 1, mRNA.	217			P -> S (in GD; type 2).		carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of MAP kinase activity|negative regulation of interleukin-6 production|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		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)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GATGTCCAGGGGCTGGCAAGG	0.582000									Gaucher disease type I					22			7		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814320	106814320	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:106814320G>A	uc003ymd.3	+	7	2033	c.2010G>A	c.(2008-2010)gtG>gtA	p.V670V	ZFPM2_uc011lhs.2_Silent_p.V401V	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	670					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTGTTGATGTGAAAAATCCCA	0.443000														20			7		0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66812087	66812087	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:66812087C>T	uc009yrl.3	+	5	1091	c.861C>T	c.(859-861)atC>atT	p.I287I	SYT12_uc001oju.3_Silent_p.I287I	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	287	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TGGGGGAGATCCTGCTCTCCC	0.637000														31			33		0	0	1	0	0
FAM160B2	64760	broad.mit.edu	37	8	21951999	21951999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:21951999G>A	uc011kyx.2	+	1	145	c.94G>A	c.(94-96)Ggc>Agc	p.G32S	FAM160B2_uc011kyw.1_Missense_Mutation_p.G32S|FAM160B2_uc011kyy.2_Non-coding_Transcript	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	Homo sapiens family with sequence similarity 160, member B2 (FAM160B2), mRNA.	32										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						GCACTGGAAGGGCATCACGCA	0.662000														57			33		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539695	55539695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:55539695G>A	uc003xsd.1	+	3	3401	c.3253G>A	c.(3253-3255)Gtc>Atc	p.V1085I	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1085					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	p.V1085V(1)		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)			CCTCTTACCAGTCCTGATGCT	0.428000														29			16		0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21689273	21689273	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:21689273C>T	uc002wsj.2	+	2	1048	c.994C>T	c.(994-996)Ccc>Tcc	p.P332S	PAX1_uc010zsl.2_Missense_Mutation_p.P332S|PAX1_uc010zsm.2_Missense_Mutation_p.P308S	NM_006192	NP_006183	P15863	PAX1_HUMAN	Homo sapiens paired box 1 (PAX1), mRNA.	332					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CACGGCCTTCCCCGCCACCCC	0.602000														81			30		0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241099956	241099956	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:241099956G>A	uc001hyv.2	-	4	607	c.277C>T	c.(277-279)Cca>Tca	p.P93S	RGS7_uc010pyh.2_Missense_Mutation_p.P67S|RGS7_uc010pyj.1_Missense_Mutation_p.P9S|RGS7_uc001hyu.2_Missense_Mutation_p.P93S|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Missense_Mutation_p.P93S	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	93	DEP.				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|protein binding|signal transducer activity	p.P93P(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTGAGATTGGAAAGAAGTAG	0.383000														116			26		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72347196	72347196	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:72347196C>T	uc002llw.2	+	0	4274	c.4221C>T	c.(4219-4221)tcC>tcT	p.S1407S	ZNF407_uc010xfc.2_Silent_p.S1407S|ZNF407_uc010dqu.2_Silent_p.S1407S|ZNF407_uc002llu.2_Silent_p.S1406S	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGGGCAGTTCCATTGGTGAGT	0.458000														21			9		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168101472	168101472	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:168101472G>A	uc002udx.3	+	8	3659	c.3570G>A	c.(3568-3570)atG>atA	p.M1190I	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.M1015I|XIRP2_uc010fpq.3_Missense_Mutation_p.M968I|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1015					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						CTGTTGAAATGGATATACAAG	0.368000														28			6		0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2127179	2127179	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:2127179G>A	uc002lva.3	-	8	1051	c.828C>T	c.(826-828)ctC>ctT	p.L276L	AP3D1_uc002luy.3_Silent_p.L185L|AP3D1_uc002luz.3_Silent_p.L276L	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	276					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity	p.L276L(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		CACATTCATAGAGGAGAGACA	0.602000														31			13		0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74079752	74079752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:74079752G>A	uc002jqs.3	-	19	2280	c.2185C>T	c.(2185-2187)Cgc>Tgc	p.R729C	EXOC7_uc002jqp.2_3'UTR|EXOC7_uc010dgv.2_Missense_Mutation_p.R603C|EXOC7_uc010wsv.2_Missense_Mutation_p.R650C|EXOC7_uc010wsw.2_Missense_Mutation_p.R701C|EXOC7_uc002jqq.3_Missense_Mutation_p.R678C|EXOC7_uc010wsx.2_Missense_Mutation_p.R670C|EXOC7_uc002jqr.3_Missense_Mutation_p.R647C	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	729					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TCGAAAAGGCGATCGATCATG	0.577000														88			29		0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47887899	47887900	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:47887899_47887900CC>TT	uc003cru.3	+	10	1763_1764	c.1337_1338CC>TT	c.(1336-1338)gcc>gTT	p.A446V	DHX30_uc003crt.3_Missense_Mutation_p.A407V	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	446	Helicase ATP-binding.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ATCCTCAACGCCATTGAGCAGC	0.663000														56			38		0	0	1	0	0
RAE1	8480	broad.mit.edu	37	20	55948608	55948608	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:55948608T>C	uc002xyg.3	+	8	1061	c.720T>C	c.(718-720)gtT>gtC	p.V240V	MIR5095_uc021wfc.1_Intron|RAE1_uc010gis.1_Silent_p.V193V|RAE1_uc010git.1_Silent_p.V240V|RAE1_uc002xyi.3_Silent_p.V240V	NM_003610	NP_003601	P78406	RAE1L_HUMAN	Homo sapiens RAE1 RNA export 1 homolog (S. pombe) (RAE1), transcript variant 1, mRNA.	240					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	RNA binding|microtubule binding			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			AGGGGAGAGTTGCTATTCACT	0.413000														117			23		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11545982	11545982	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11545982T>A	uc010shk.1	-	2	1065	c.1030A>T	c.(1030-1032)Aag>Tag	p.K344*		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.									p.G343E(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTTGTGGCTTTCCTGGAGGT	0.602000														158			130		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136567238	136567238	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:136567238G>A	uc002tuu.1	-	7	2690	c.2679C>T	c.(2677-2679)ttC>ttT	p.F893F		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	893	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)		AATCTCTTTCGAACTTGGGTT	0.522000														78			31		0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5079889	5079889	+	Silent	SNP	C	T	T	rs148031312		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5079889C>T	uc010qyw.2	-	0	969	c.969G>A	c.(967-969)acG>acA	p.T323T		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	323					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TTCAGAACCTCGTATGTATTA	0.318000														23			22		0	0	1	0	0
ITFG2	55846	broad.mit.edu	37	12	2933306	2933306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:2933306C>T	uc001qlb.2	+	11	1431	c.1291C>T	c.(1291-1293)Cat>Tat	p.H431Y	ITFG2_uc010seb.2_Missense_Mutation_p.H254Y|ITFG2_uc010sec.2_Non-coding_Transcript	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 2 (ITFG2), mRNA.	431										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AACGCTCTACCATCCAGACCA	0.592000														83			19		0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70715264	70715264	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:70715264C>T	uc003heo.3	-	4	500	c.387G>A	c.(385-387)cgG>cgA	p.R129R	SULT1E1_uc010ihv.1_Silent_p.R129R	NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	129					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CCTTTGCATTCCGGCAAAGAT	0.333000														23			31		0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58189901	58189901	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:58189901C>T	uc010rkg.2	-	0	886	c.834G>A	c.(832-834)atG>atA	p.M278I		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGGGGATGATCATAGCATAGA	0.453000														40			32		0	0	1	0	0
ALG3	10195	broad.mit.edu	37	3	183963139	183963139	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:183963139G>A	uc003fne.2	-	3	483	c.452C>T	c.(451-453)cCc>cTc	p.P151L	ALG3_uc011brc.1_Missense_Mutation_p.P116L|ALG3_uc011brd.1_Missense_Mutation_p.P95L|ALG3_uc011bre.1_Missense_Mutation_p.P103L|ALG3_uc011brf.1_Missense_Mutation_p.P43L	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.	151					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAAGACGAAGGGAGGTACCTA	0.572000														11			3		0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37516634	37516634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:37516634C>T	uc003jkv.3	+	8	917	c.859C>T	c.(859-861)Cat>Tat	p.H287Y	WDR70_uc010iva.1_Missense_Mutation_p.H287Y	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	Homo sapiens WD repeat domain 70 (WDR70), mRNA.	287										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCAATGCTTCATACTGGCTC	0.308000														33			10		0	0	1	0	0
C1orf186	440712	broad.mit.edu	37	1	206241534	206241534	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:206241534C>T	uc001hdt.1	-	4	895	c.256_splice	c.e4+1	p.H86_splice		NM_001007544	NP_001007545	Q6ZWK4	CA186_HUMAN	Homo sapiens chromosome 1 open reading frame 186 (C1orf186), mRNA.	86						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CTTACTCACGCCTGTAAAGGG	0.552000														109			113		0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007921	6007921	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:6007921G>A	uc001mcd.2	-	0	295	c.240C>T	c.(238-240)ttC>ttT	p.F80F		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCATGGACAGGAAGAGGTACA	0.537000														32			7		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140168284	140168284	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140168284C>T	uc003lgz.3	+	0	2409	c.2409C>T	c.(2407-2409)ttC>ttT	p.F803F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron	NM_031410	NP_113598	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 2, mRNA.	0					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G802E(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCAACTTTCGAGTTTTGGC	0.338000														3			6		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87484311	87484311	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:87484311G>A	uc001kdl.1	-	10	1757	c.1656C>T	c.(1654-1656)atC>atT	p.I552I	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Silent_p.I123I	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	552						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGAAGATGCTGATTTTCTCCT	0.502000										Multiple Myeloma(13;0.14)				38			15		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56089326	56089326	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:56089326C>T	uc001shh.3	-	13	2215	c.1995G>A	c.(1993-1995)acG>acA	p.T665T	ITGA7_uc001shg.3_Silent_p.T661T|ITGA7_uc010sps.2_Silent_p.T568T|ITGA7_uc009znw.3_5'UTR|ITGA7_uc009znx.3_Silent_p.T542T	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	705					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTTGGAATTCCGTGTCGCTGA	0.597000														52			22		0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175520890	175520890	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:175520890C>T	uc003fit.3	+	13	2374	c.2287C>T	c.(2287-2289)Caa>Taa	p.Q763*		NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	763					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)		TGAGACCCTTCAAGAAGCCCT	0.438000														24			8		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107170059	107170059	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:107170059C>T	uc021ser.1	-	44		c.2825G>A								Parts of antibodies, mostly variable regions.																		TTTGCTGTACCAAAGATAGGG	0.557000														145			29		0	0	1	0	0
IWS1	55677	broad.mit.edu	37	2	128262588	128262588	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:128262588G>A	uc002ton.2	-	2	1194	c.891C>T	c.(889-891)ccC>ccT	p.P297P	IWS1_uc010yzl.1_Non-coding_Transcript|BC022892_uc002too.1_5'Flank|IWS1_uc010fma.2_Non-coding_Transcript	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	297	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CACTGACTCGGGGTTTGGGTA	0.532000														123			43		0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47548115	47548115	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:47548115G>A	uc001cqu.1	+	3	477	c.474G>A	c.(472-474)gaG>gaA	p.E158E		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	158						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TGATGTCTGAGAGTGTTCGGA	0.483000														26			11		0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605096	140605096	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140605096C>T	uc003ljb.3	+	0	2019	c.2019C>T	c.(2017-2019)ctC>ctT	p.L673L		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	673					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTGCCGCTCCCTGAGGCGG	0.692000														47			97		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103871	53103871	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:53103871C>T	uc003tpz.3	+	0	523	c.507C>T	c.(505-507)ctC>ctT	p.L169L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	169										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						cccAGGAGCTCCTGGACCCCT	0.711000														34			10		0	0	1	0	0
CCDC81	60494	broad.mit.edu	37	11	86119203	86119203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:86119203G>A	uc001pbx.2	+	8	1432	c.1004G>A	c.(1003-1005)cGa>cAa	p.R335Q	CCDC81_uc001pbw.2_Missense_Mutation_p.R245Q|CCDC81_uc010rtq.2_Missense_Mutation_p.R118Q|CCDC81_uc001pby.2_Intron	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA.	335										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CGAGCACAACGAAATTCCCTG	0.393000														16			7		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169654139	169654139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:169654139C>T	uc003fgd.3	+	7	1321	c.1054C>T	c.(1054-1056)Cat>Tat	p.H352Y	SAMD7_uc003fge.3_Missense_Mutation_p.H352Y|SAMD7_uc011bpo.2_Missense_Mutation_p.H253Y	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	352	SAM.									NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			ATTTAAAGATCATGCAATTGA	0.358000														18			9		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	22078763	22078763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:22078763G>A	uc010iuc.2	-	1	481	c.23C>T	c.(22-24)tCc>tTc	p.S8F	CDH12_uc011cno.1_Missense_Mutation_p.S8F|CDH12_uc003jgk.2_Missense_Mutation_p.S8F	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	8					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GAGAAGCAGGGATAAACAGTT	0.438000										HNSCC(59;0.17)				104			25		0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479545	4479545	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:4479545G>A	uc001qmq.1	-	2	866	c.720C>T	c.(718-720)ggC>ggT	p.G240G		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.	240					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			AGCCTTCCGGGCCCGTTCCCC	0.647000														91			25		0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36298290	36298290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:36298290C>T	uc003oly.3	-	1	356	c.178G>A	c.(178-180)Gac>Aac	p.D60N		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	60										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GCTGGGCTGTCTGAATGTCTG	0.637000														82			21		0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012515	29012515	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29012515G>A	uc003nlw.2	-	0	438	c.438C>T	c.(436-438)atC>atT	p.I146I	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TCCAGATCATGATAATCATCT	0.373000														52			12		0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175198	143175198	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:143175198G>A	uc003wdc.1	+	0	233	c.233G>A	c.(232-234)gGg>gAg	p.G78E	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	78					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)					GAGTACTCTGGGGGTCTCGGC	0.537000														74			29		0	0	1	0	0
TMEM57	55219	broad.mit.edu	37	1	25817909	25817909	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:25817909G>A	uc001bkk.3	+	9	1828	c.1626G>A	c.(1624-1626)cgG>cgA	p.R542R	TMEM57_uc009vru.3_Silent_p.R315R|TMEM57_uc009vrv.3_Silent_p.R184R	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	542						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAGCTTCGGAAATATAAGG	0.398000														28			11		0	0	1	0	0
IL2RG	3561	broad.mit.edu	37	X	70329078	70329078	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:70329078C>T	uc004dyw.2	-	5	849	c.757_splice	c.e5+1	p.E253_splice	CXorf65_uc011mpo.2_5'Flank|CXorf65_uc011mpp.2_5'Flank|IL2RG_uc004dyv.2_Splice_Site_p.R14_splice|IL2RG_uc004dyx.2_Splice_Site_p.E63_splice	NM_000206	NP_000197	P31785	IL2RG_HUMAN	Homo sapiens interleukin 2 receptor, gamma (IL2RG), mRNA.	253					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	CCCATTTTACCTTTTGAAGTA	0.517000									Severe Combined Immunodeficiency, X-linked					14			17		0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5655114	5655114	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5655114G>A	uc001mbh.3	+	2	661	c.504G>A	c.(502-504)gaG>gaA	p.E168E	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Silent_p.E522E|TRIM6-TRIM34_uc001mbi.3_Silent_p.E168E|TRIM6-TRIM34_uc001mbj.3_Silent_p.E168E	NM_001003827	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 34 (TRIM34), transcript variant 4, mRNA.	522						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		TCAGAGAAGAGAAAACTTCCT	0.473000														32			10		0	0	1	0	0
ZFY	7544	broad.mit.edu	37	Y	2847345	2847345	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrY:2847345C>T	uc004fqj.3	+	7	2038	c.1717C>T	c.(1717-1719)Caa>Taa	p.Q573*	ZFY_uc011nan.2_Nonsense_Mutation_p.Q382*|ZFY_uc010nwe.3_Nonsense_Mutation_p.Q496*	NM_003411	NP_003402	P08048	ZFY_HUMAN	Homo sapiens zinc finger protein, Y-linked (ZFY), transcript variant 1, mRNA.	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						GAAGCCATACCAATGCCAGTA	0.423000														2			16		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525627	176525627	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:176525627C>T	uc001gkz.3	+	1	1333	c.169C>T	c.(169-171)Cga>Tga	p.R57*	PAPPA2_uc001gky.1_Nonsense_Mutation_p.R57*|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	57					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCCAAGGTTCGAAGACCCAG	0.567000														104			116		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37438752	37438752	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:37438752G>A	uc021ppc.1	+	10	1551	c.1452G>A	c.(1450-1452)ttG>ttA	p.L484L	ANKRD30A_uc001iza.1_Silent_p.L484L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	540						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCTTTGAATTGAAGAATGAAC	0.313000														48			31		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180043377	180043377	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:180043377C>A	uc003mlz.4	-	22	3288	c.3209G>T	c.(3208-3210)cGc>cTc	p.R1070L	FLT4_uc003mma.4_Missense_Mutation_p.R1070L	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1070	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACTGCCCTTGCGGACGTAGTC	0.607000														16			38		4.62619e-21	4.68128e-21	1	1	0
AKAP3	10566	broad.mit.edu	37	12	4736475	4736476	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:4736475_4736476GG>TA	uc001qnb.4	-	3	1836_1837	c.1592_1593CC>TA	c.(1591-1593)gcc>gTA	p.A531V		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	531					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						TCAGAAGCAGGGCAGACACGAT	0.515000														21			12		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35644898	35644898	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:35644898C>T	uc021rid.1	+	9	2014	c.1480C>T	c.(1480-1482)Cat>Tat	p.H494Y	NBEA_uc021ric.1_Missense_Mutation_p.H494Y	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	494						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.H494Y(2)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAGTGCAATTCATTCAATTGG	0.333000														26			23		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8152827	8152827	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:8152827G>A	uc002mjf.3	-	51	6518	c.6501C>T	c.(6499-6501)atC>atT	p.I2167I	FBN3_uc002mje.3_Silent_p.I6I	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2167	EGF-like 35; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.D2166Y(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGCATTCGTCGATGTCTGGGG	0.672000														33			52		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124352569	124352569	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:124352569G>A	uc001uft.4	+	41	7093	c.7068G>A	c.(7066-7068)gaG>gaA	p.E2356E		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2356					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCCTGCTTGAGGATGGAAGGA	0.498000														35			12		0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30999284	30999284	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:30999284C>T	uc003xio.4	+	25	4014	c.3226C>T	c.(3226-3228)Ctg>Ttg	p.L1076L	WRN_uc010lvk.3_Silent_p.L543L	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	1076					DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GAAGTTGCTTCTGCCTAGGTT	0.338000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					12			12		0	0	1	0	0
ATL1	51062	broad.mit.edu	37	14	51096714	51096714	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:51096714G>A	uc021rsw.1	+	13	1793	c.1552_splice	c.e13-1	p.G518_splice	ATL1_uc001wyd.4_Intron|ATL1_uc001wyf.4_Intron|ATL1_uc001wye.4_Intron|ATL1_uc021rsx.1_Splice_Site_p.G518_splice	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.	518	Sufficient for membrane association.				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	Golgi cis cisterna|Golgi membrane|axon|endoplasmic reticulum membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						TTGCCACAGGGAAGTACAAAT	0.264000														33			9		0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116812003	116812003	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:116812003C>T	uc004bid.3	+	14	2520	c.2421C>T	c.(2419-2421)atC>atT	p.I807I	ZNF618_uc004bic.3_Silent_p.I714I|ZNF618_uc011lxi.2_Silent_p.I774I|ZNF618_uc011lxj.2_Silent_p.I775I|ZNF618_uc010mvb.3_Silent_p.I397I	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	807					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TGGCCATGATCCTGGACCCGC	0.617000														18			21		0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74388010	74388010	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:74388010A>T	uc002jrm.4	-	15	3196	c.3131T>A	c.(3130-3132)cTg>cAg	p.L1044Q	UBE2O_uc002jrl.4_Missense_Mutation_p.L648Q	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	1044							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CCAGGTGCCCAGGAGGCTGAC	0.592000														23			12		0	0	1	0	0
SLC2A1	6513	broad.mit.edu	37	1	43393333	43393333	+	Silent	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:43393333T>G	uc001cik.2	-	8	1746	c.1221A>C	c.(1219-1221)gcA>gcC	p.A407A		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	407					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TGGAGAAGCCTGCAACGGCAA	0.557000														2			20		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64483969	64483969	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:64483969C>T	uc003jtp.3	-	21	3598	c.2784G>A	c.(2782-2784)agG>agA	p.R928R	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	928	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GTCCGATCTTCCTGATGCAGA	0.527000														70			60		0	0	1	0	0
AKD1	221264	broad.mit.edu	37	6	109819150	109819150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:109819150C>T	uc003ptn.2	-	36	5142	c.5065G>A	c.(5065-5067)Gaa>Aaa	p.E1689K	AKD1_uc011eas.1_Missense_Mutation_p.E74K	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1689					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						ACGTACAATTCTGGGTTCTCC	0.458000														31			14		0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7727811	7727811	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:7727811T>C	uc003mxu.4	+	0	801	c.623T>C	c.(622-624)tTc>tCc	p.F208S		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	208					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GACAGCGCCTTCCTCAACGAC	0.647000														19			9		0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156618425	156618425	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:156618425G>A	uc001fpp.3	+	5	1171	c.835G>A	c.(835-837)Gag>Aag	p.E279K	BCAN_uc001fpo.3_Missense_Mutation_p.E279K	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	279	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.Q278Q(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTACTGCCAGGAGCGGGGTGC	0.617000														120			38		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120586088	120586088	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:120586088G>A	uc001txo.3	-	36	4622	c.4609C>T	c.(4609-4611)Ccc>Tcc	p.P1537S		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1537					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACAATGTTGGGTAGACAGGAT	0.557000														43			19		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56385021	56385022	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:56385021_56385022GG>AA	uc002ivx.4	-	23	5804_5805	c.4933_4934CC>TT	c.(4933-4935)cct>TTt	p.P1645F	BZRAP1_uc002ivv.3_5'Flank|BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Missense_Mutation_p.P1585F|BZRAP1_uc010wnt.2_Missense_Mutation_p.P1645F	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1645	SH3 2.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCAGCATCAGGATTGGGCGAC	0.550000														43			9		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511758	61511759	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:61511758_61511759CC>TT	uc002ydr.2	-	15	5861_5862	c.5549_5550GG>AA	c.(5548-5550)ggg>gAA	p.G1850E	DIDO1_uc002yds.2_Missense_Mutation_p.G1850E	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1850	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.H1849L(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCCTCTTCTCCCCATGGGGATC	0.609000														82			76		0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136667103	136667103	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:136667103G>A	uc011edg.2	-	16	2469	c.2220C>T	c.(2218-2220)acC>acT	p.T740T	MAP7_uc011edf.2_Silent_p.T695T|MAP7_uc010kgu.3_Silent_p.T732T|MAP7_uc011edh.2_Silent_p.T695T|MAP7_uc010kgv.3_Silent_p.T732T|MAP7_uc010kgs.3_Silent_p.T564T|MAP7_uc011edi.2_Silent_p.T564T|MAP7_uc010kgq.2_Silent_p.T616T|MAP7_uc003qgz.3_Silent_p.T710T|MAP7_uc003qha.2_Silent_p.T673T	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	710					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	p.G739V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCTCACTGTTGGTGACATCTA	0.398000														15			10		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10404958	10404958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10404958C>T	uc002gmo.3	-	25	3395	c.3301G>A	c.(3301-3303)Gaa>Aaa	p.E1101K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1101						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						AGGGCTTGTTCATCTTCAATC	0.378000														17			38		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531930	140531930	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140531930C>T	uc003lir.3	+	0	2092	c.2092C>T	c.(2092-2094)Ctc>Ttc	p.L698F		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	698					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGTCGTCGCTCTTCCTCTT	0.692000														136			36		0	0	1	0	0
KRT16P3	644945	broad.mit.edu	37	17	20406445	20406445	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:20406445C>T	uc002gxb.3	-	2		c.794G>A								Homo sapiens keratin 16 pseudogene 3 (KRT16P3), non-coding RNA.																		CTTCCATCTCCATCTCCAGGT	0.642000														16			8		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230075	21230075	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:21230075G>A	uc002red.3	-	25	9793	c.9665C>T	c.(9664-9666)tCc>tTc	p.S3222F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3222	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCATTATAGGATTTGGTGAC	0.368000														368			250		0	0	1	0	0
ANXA4	307	broad.mit.edu	37	2	70037755	70037755	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:70037755C>T	uc010yqo.2	+	6	689	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	ANXA4_uc010yqn.1_Non-coding_Transcript|ANXA4_uc002sfr.4_Missense_Mutation_p.R143C|ANXA4_uc002sfs.4_Missense_Mutation_p.R121C	NM_001153	NP_001144	P09525	ANXA4_HUMAN	Homo sapiens annexin A4 (ANXA4), mRNA.	141					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						AGATGACATTCGCTCTGACAC	0.488000														82			12		0	0	1	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609155	32609155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:32609155G>A	uc003obr.3	+	1	204	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	HLA-DQA1_uc003obs.3_Non-coding_Transcript|HLA-DQA1_uc003obt.1_Missense_Mutation_p.E51K|HLA-DQA1_uc003obu.3_5'Flank|HLA-DQA1_uc021yvy.1_5'Flank	NM_002122	NP_002113	P01909	DQA1_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 1 (HLA-DQA1), mRNA.	51	Alpha-1.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GTACACCCATGAATTTGATGG	0.532000														93			10		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281535	152281535	+	Missense_Mutation	SNP	G	A	A	rs146249485		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152281535G>A	uc001ezu.1	-	2	5863	c.5827C>T	c.(5827-5829)Ctt>Ttt	p.L1943F		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1943	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.H1942N(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGATCCAAGATGGTTTCTG	0.567000									Ichthyosis					315			100		0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71840658	71840658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:71840658C>T	uc004eax.4	-	18	2355	c.2054G>A	c.(2053-2055)gGg>gAg	p.G685E	PHKA1_uc004eay.4_Missense_Mutation_p.G685E|PHKA1_uc011mqi.2_Intron	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	685					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CCGATCTAGCCCTCCCTTCTG	0.517000														17			21		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71175907	71175907	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:71175907C>T	uc003tvy.3	+	9	1662	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	WBSCR17_uc003tvz.3_Silent_p.F253F	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	554	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCTGGAACTTCATCCAGGTGA	0.607000														34			9		0	0	1	0	0
KIR2DL5B	553128	broad.mit.edu	37	GL000209.1	95668	95668	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrGL000209.1:95668G>A	uc002quk.1	+	7	1109	c.1054G>A	c.(1054-1056)Gga>Aga	p.G352R	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_5'Flank	NM_001018081	NP_001018091	Q8NHK4	Q8NHK4_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B (KIR2DL5B), mRNA.	352							receptor activity										GGCCTTGAGGGGATCTTCTAG	0.502000														31			19		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155313240	155313240	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155313240G>A	uc009wqq.3	-	23	8653	c.8173C>T	c.(8173-8175)Ccc>Tcc	p.P2725S	ASH1L_uc001fkt.3_Missense_Mutation_p.P2720S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2725	BAH.				DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GTTTCGTGGGGACGGAAATAA	0.463000														37			46		0	0	1	0	0
SEPT12	124404	broad.mit.edu	37	16	4827818	4827818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:4827818C>T	uc002cxq.3	-	9	1321	c.1057G>A	c.(1057-1059)Gat>Aat	p.D353N	SEPT12_uc002cxr.3_Missense_Mutation_p.D307N|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	353					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						TCATCAGAATCGTCATGGGCC	0.662000														1			5		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70916889	70916889	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:70916889C>T	uc003pfc.1	+	50	3457	c.3340C>T	c.(3340-3342)Cag>Tag	p.Q1114*		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	1114					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCCAGGCCCACAGGGCCCCCC	0.532000														119			55		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16257107	16257107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:16257107C>T	uc001axk.1	+	10	4576	c.4372C>T	c.(4372-4374)Cgt>Tgt	p.R1458C	SPEN_uc010obp.1_Missense_Mutation_p.R1417C	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1458					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding	p.S1457A(1)|p.R1458L(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTCTTCATCTCGTGAAGAAAA	0.368000														4			31		0	0	1	0	0
C1orf129	80133	broad.mit.edu	37	1	170916685	170916685	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:170916685C>T	uc010plz.2	+	2	197	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	C1orf129_uc001ghg.3_Silent_p.L15L|C1orf129_uc009wvy.3_5'UTR	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	15							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCTCCAGATTCTGCAAGACAG	0.373000														57			52		0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64211317	64211317	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:64211317G>A	uc002lkc.1	-	6	1243	c.1105C>T	c.(1105-1107)Ctt>Ttt	p.L369F	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Missense_Mutation_p.L369F|CDH19_uc002lkd.3_Missense_Mutation_p.L369F	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	369	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				AGGAGGAAAAGAGGAGGCTCA	0.438000														15			12		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968026	102968026	+	Missense_Mutation	SNP	G	A	A	rs150294315		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:102968026G>A	uc002tbu.1	+	10	1587	c.1316G>A	c.(1315-1317)cGa>cAa	p.R439Q	IL18R1_uc002tbw.4_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	439	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ACCAACATACGAAAGAGCAGG	0.438000														8			18		0	0	1	0	0
TCL1A	8115	broad.mit.edu	37	14	96180332	96180332	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:96180332G>A	uc001yfc.4	-	0	202	c.72C>T	c.(70-72)ttC>ttT	p.F24F	BX247990_uc001yfd.1_5'Flank|TCL1A_uc001yfb.4_Silent_p.F24F	NM_001098725	NP_068801	P56279	TCL1A_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1A (TCL1A), transcript variant 2, mRNA.	24					multicellular organismal development	endoplasmic reticulum|microsome		p.K23N(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CCAAATACACGAACTTCTCCC	0.657000			T	TRA@	T-CLL									69			43		0	0	1	0	0
CXCR5	643	broad.mit.edu	37	11	118754686	118754686	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:118754686G>A	uc001pue.4	+	0	212	c.36G>A	c.(34-36)gaG>gaA	p.E12E		NM_001716	NP_116743	P32302	CXCR5_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 5 (CXCR5), transcript variant 1, mRNA.	12					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		TGGACCTCGAGAACCTGGAGG	0.582000														0			8		0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22861907	22861907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:22861907G>A	uc001yuq.2	+	13	2057	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	TUBGCP5_uc001yur.4_Missense_Mutation_p.D643N|TUBGCP5_uc010axz.1_Missense_Mutation_p.D230N	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	643					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TGATGTTCATGATCCACTGCT	0.423000														73			18		0	0	1	0	0
TMEM139	135932	broad.mit.edu	37	7	142983718	142983718	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142983718C>T	uc003wcl.3	+	4	701	c.447C>T	c.(445-447)tcC>tcT	p.S149S	CASP2_uc003wco.3_5'Flank|CASP2_uc003wcp.3_5'Flank|CASP2_uc011kta.2_5'Flank|CASP2_uc003wcq.3_5'Flank|TMEM139_uc022aoc.1_Silent_p.S149S|TMEM139_uc010lov.3_Silent_p.S149S|TMEM139_uc003wck.4_Silent_p.S149S|TMEM139_uc003wcn.3_Silent_p.S6S|TMEM139_uc022aod.1_Silent_p.S6S|TMEM139_uc003wcm.3_Silent_p.S149S	NM_001242774	NP_001229703	Q8IV31	TM139_HUMAN	Homo sapiens transmembrane protein 139 (TMEM139), transcript variant 3, mRNA.	149						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					CAGAGGGGTCCATGGCCCAGG	0.607000														45			11		0	0	1	0	0
GLIPR1L1	256710	broad.mit.edu	37	12	75737648	75737648	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:75737648G>A	uc001sxo.3	+	1	396	c.350G>A	c.(349-351)tGg>tAg	p.W117*	CAPS2_uc001sxm.3_Intron|CAPS2_uc009zsa.2_Intron|GLIPR1L1_uc001sxn.3_Nonsense_Mutation_p.W117*	NM_152779	NP_689992	Q6UWM5	GPRL1_HUMAN	Homo sapiens GLI pathogenesis-related 1 like 1 (GLIPR1L1), mRNA.	117						extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						ATTACGGCTTGGTATAATGAA	0.333000														30			19		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13769652	13769652	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:13769652C>T	uc003jfd.2	-	56	9720	c.9678G>A	c.(9676-9678)gcG>gcA	p.A3226A	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3226	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E3225D(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)					CCTTTTCTTTCGCTTCCAGTT	0.433000									Kartagener syndrome					36			95		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65392422	65392422	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:65392422C>T	uc011moz.2	+	2	692	c.555C>T	c.(553-555)ttC>ttT	p.F185F	HEPH_uc004dwn.3_Silent_p.F134F|HEPH_uc004dwo.3_5'UTR|HEPH_uc010nkr.3_Silent_p.F134F|HEPH_uc011mpa.2_Silent_p.F134F	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	131	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATGGTGTCTTCTACGAGAAGG	0.483000														32			20		0	0	1	0	0
NUP35	129401	broad.mit.edu	37	2	184025781	184025781	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:184025781G>A	uc002upf.3	+	9	1007	c.904_splice	c.e9-1	p.V302_splice	NUP35_uc010zfs.2_Splice_Site_p.V284_splice|NUP35_uc010zft.2_Splice_Site_p.V184_splice|NUP35_uc002upg.3_Splice_Site	NM_138285	NP_612142	Q8NFH5	NUP53_HUMAN	Homo sapiens nucleoporin 35kDa (NUP35), mRNA.	302					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						TTTTTTAATAGGTTATTTCTG	0.353000														12			4		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118198915	118198915	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:118198915C>T	uc001two.2	-	3	855	c.800G>A	c.(799-801)cGa>cAa	p.R267Q		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	296	Pro-rich.				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)					TATCAGTTTTCGGGAGGAGGG	0.662000														250			89		0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	339520	339520	+	Silent	SNP	G	A	A	rs145726235		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:339520G>A	uc002cgp.2	-	9	2771	c.2382C>T	c.(2380-2382)atC>atT	p.I794I	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Silent_p.I758I	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	794	DIX.				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TGCGGTAGGGGATGGGTTCCC	0.632000														35			15		0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167656164	167656164	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:167656164C>T	uc011cjq.1	-	9	1303	c.1246G>A	c.(1246-1248)Gat>Aat	p.D416N	SPOCK3_uc021xuf.1_Missense_Mutation_p.D407N|SPOCK3_uc011cjr.1_Missense_Mutation_p.D287N|SPOCK3_uc003iri.1_Missense_Mutation_p.D407N|SPOCK3_uc011cjs.1_Missense_Mutation_p.D356N|SPOCK3_uc003irj.1_Missense_Mutation_p.D404N|SPOCK3_uc011cjt.1_Missense_Mutation_p.D315N|SPOCK3_uc011cjp.2_Missense_Mutation_p.D364N|SPOCK3_uc011cju.1_Missense_Mutation_p.D311N|SPOCK3_uc011cjv.1_Missense_Mutation_p.D309N	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	407	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.D415V(1)|p.D404N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		ttcataatatcgtcttcatca	0.358000														45			7		0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080403	54080403	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:54080403C>T	uc002qbx.1	+	6	2023	c.589C>T	c.(589-591)Cga>Tga	p.R197*	ZNF331_uc002qby.1_Nonsense_Mutation_p.R197*|ZNF331_uc002qbz.1_Nonsense_Mutation_p.R197*|ZNF331_uc010eqr.1_Nonsense_Mutation_p.R197*|ZNF331_uc002qca.1_Nonsense_Mutation_p.R197*|ZNF331_uc021uzg.1_Nonsense_Mutation_p.R197*|ZNF331_uc021uzh.1_Nonsense_Mutation_p.R197*|ZNF331_uc002qcb.1_Nonsense_Mutation_p.R197*|ZNF331_uc002qcc.1_Nonsense_Mutation_p.R197*|ZNF331_uc002qcd.1_Nonsense_Mutation_p.R197*	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GAAGGCTTTTCGATGGGGCTC	0.453000			T	?	follicular thyroid adenoma									60			22		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78969007	78969007	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:78969007G>A	uc004akc.2	+	35	5583	c.5045G>A	c.(5044-5046)gGg>gAg	p.G1682E		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	849					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AAGGGACCAGGGGCCAAGAAC	0.542000														5			3		0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49655269	49655269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:49655269C>T	uc002pmv.3	-	3	2205	c.2018G>A	c.(2017-2019)tGc>tAc	p.C673Y		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	673	Metal-binding (Potential).				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		ACCTGGAGCGCAGACCGTTTC	0.692000														28			15		0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32207776	32207776	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:32207776G>A	uc001btn.3	-	7	1649	c.1295C>T	c.(1294-1296)tCc>tTc	p.S432F	BAI2_uc010ogo.2_Missense_Mutation_p.S74F|BAI2_uc010ogp.2_Missense_Mutation_p.S365F|BAI2_uc010ogq.2_Missense_Mutation_p.S432F|BAI2_uc001bto.3_Missense_Mutation_p.S432F|BAI2_uc001btq.1_Missense_Mutation_p.S365F|BAI2_uc010ogr.1_Missense_Mutation_p.S365F	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	432	TSP type-1 3.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		ACAGGACGTGGAGCATGGGCC	0.662000														25			23		0	0	1	0	0
S1PR2	9294	broad.mit.edu	37	19	10334520	10334520	+	Nonstop_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:10334520T>C	uc002mnl.2	-	1	1173	c.1062A>G	c.(1060-1062)tgA>tgG	p.*354W	S1PR2_uc021uos.1_Splice_Site_p.*354_splice	NM_004230	NP_004221	O95136	S1PR2_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 2 (S1PR2), mRNA.	0					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						ACCCCCACCCTCAGACCACCG	0.652000														19			14		0	0	1	0	0
TCR-alpha	0	broad.mit.edu	37	14	22433768	22433768	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:22433768C>T	uc021rpm.1	+	0	71	c.33C>T	c.(31-33)atC>atT	p.I11I	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron					SubName: Full=V-alpha; Flags: Fragment;																		TACTGGTGATCCTGTGGCTTC	0.363000														52			10		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40877386	40877386	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:40877386G>A	uc002xkg.3	-	13	2437	c.2253C>T	c.(2251-2253)atC>atT	p.I751I	PTPRT_uc010ggj.3_Silent_p.I770I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	751					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGAGGCCAGCGATCACGCCAG	0.552000														49			14		0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82125844	82125844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:82125844C>T	uc003hmh.2	-	0	371	c.358G>A	c.(358-360)Gga>Aga	p.G120R	PRKG2_uc011cch.1_Missense_Mutation_p.G120R	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	120					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GCCTTTGCTCCCCTCCTGCTA	0.537000														132			174		0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52735294	52735294	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:52735294C>T	uc001wzq.3	+	0	864	c.762C>T	c.(760-762)tcC>tcT	p.S254S		NM_000953	NP_000944	Q13258	PD2R_HUMAN	Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA.	254						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GGGAAGCGTCCCCTCAGCCCC	0.677000														101			31		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171056792	171056792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:171056792G>A	uc002ufy.3	+	2	462	c.319G>A	c.(319-321)Gag>Aag	p.E107K	MYO3B_uc002ufv.3_Missense_Mutation_p.E94K|MYO3B_uc010fqb.1_Missense_Mutation_p.E107K|MYO3B_uc002ufz.3_Missense_Mutation_p.E107K|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002uga.3_Missense_Mutation_p.E94K	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	107	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCTGGTCCTGGAGGTAAGAGG	0.453000														31			10		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175067612	175067612	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:175067612G>A	uc001gkl.1	+	8	2113	c.2000G>A	c.(1999-2001)gGg>gAg	p.G667E	TNN_uc010pmx.1_Missense_Mutation_p.G578E	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	667	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.G667W(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTTCCGGTGGGGAAGGAGCAG	0.627000														165			51		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410526	105410526	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:105410526C>T	uc010axc.1	-	6	11382	c.11262G>A	c.(11260-11262)aaG>aaA	p.K3754K	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.K3654K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3754						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGACTTCCGCCTTGGAGACTT	0.607000														159			52		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1893202	1893202	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:1893202C>T	uc002qxe.3	-	15	3158	c.2331G>A	c.(2329-2331)atG>atA	p.M777I	MYT1L_uc002qxd.3_Missense_Mutation_p.M775I|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	777					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)		TCTGCTTGTTCATGCTGAGGT	0.597000														115			15		0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48285762	48285762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:48285762C>T	uc010rht.2	+	0	350	c.350C>T	c.(349-351)gCc>gTc	p.A117V		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						ATGGTGATGGCCTATGACCGC	0.527000														39			20		0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364465	5364465	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5364465G>A	uc001map.1	-	0	290	c.290C>T	c.(289-291)tCc>tTc	p.S97F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.S97F	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F96S(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTAGGCCTGGGAAAAGCAGGC	0.547000														36			8		0	0	1	0	0
ITM2C	81618	broad.mit.edu	37	2	231741646	231741646	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:231741646C>T	uc002vqz.3	+	3	645	c.525C>T	c.(523-525)ccC>ccT	p.P175P	ITM2C_uc002vra.3_Silent_p.P128P|ITM2C_uc002vrb.3_Intron|ITM2C_uc002vrc.3_Silent_p.P64P|ITM2C_uc002vrd.3_Intron	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	Homo sapiens integral membrane protein 2C (ITM2C), transcript variant 1, mRNA.	175	BRICHOS.				negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TTGTGCTGCCCCCTCGCAACT	0.582000														65			22		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56249680	56249680	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56249680C>T	uc002qly.3	-	0	89	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	21	DAPIN.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CAAAACTCTTCCTTTCTGAGC	0.453000														89			82		0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41597763	41597763	+	Missense_Mutation	SNP	C	T	T	rs149101733	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:41597763C>T	uc002opt.3	+	4	790	c.781C>T	c.(781-783)Ccc>Tcc	p.P261S		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	261					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CACGCTGGATCCCAATTCCCC	0.582000														49			29		0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37118348	37118348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:37118348G>A	uc002oek.3	+	4	1662	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	ZNF382_uc010efa.3_Missense_Mutation_p.E468K|ZNF382_uc010efb.3_Missense_Mutation_p.E516K|ZNF382_uc002oel.3_Missense_Mutation_p.E516K	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	Homo sapiens zinc finger protein 382 (ZNF382), mRNA.	517	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G516D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCACACAGGCGAGAAACCATA	0.423000														37			16		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36122927	36122927	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:36122927G>C	uc003gsq.2	-	22	4106	c.3768C>G	c.(3766-3768)atC>atG	p.I1256M		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1256	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCATGTGATTGATTTCTGAGC	0.343000														11			15		0	0	1	0	0
FAM55B	120406	broad.mit.edu	37	11	114569187	114569187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:114569187G>A	uc009yyy.2	+	2	651	c.553G>A	c.(553-555)Ggc>Agc	p.G185S		NM_182495	NP_872301	Q96DL1	FA55B_HUMAN	Homo sapiens family with sequence similarity 55, member B (FAM55B), mRNA.	185						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|lung(6)|ovary(1)	14						GTTCTGGGAGGGCCAGGTTTC	0.547000														2			10		0	0	1	0	0
C14orf102	55051	broad.mit.edu	37	14	90754901	90754901	+	Missense_Mutation	SNP	G	A	A	rs146392222		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:90754901G>A	uc001xyi.2	-	10	3051	c.2818C>T	c.(2818-2820)Cca>Tca	p.P940S	C14orf102_uc010atp.1_Missense_Mutation_p.P445S|C14orf102_uc001xyj.2_Missense_Mutation_p.P709S	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	940							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		GAGCCTTCTGGGAAAACAGAA	0.502000														52			29		0	0	1	0	0
NAPSB	256236	broad.mit.edu	37	19	50838088	50838088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:50838088C>T	uc002prw.3	-	6	927	c.151G>A	c.(151-153)Gag>Aag	p.E51K	NR1H2_uc002prv.4_Intron					Homo sapiens napsin B aspartic peptidase pseudogene (NAPSB), non-coding RNA.											central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						GACCTCACCTCCCCAGCCAGC	0.607000														7			5		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101742293	101742293	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:101742293G>A	uc001vox.1	-	28	3483	c.3294C>T	c.(3292-3294)ttC>ttT	p.F1098F		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1098						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)					CCACATTGTCGAAATTAAAGT	0.463000														153			52		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104047	53104047	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:53104047C>T	uc003tpz.3	+	0	699	c.683C>T	c.(682-684)tCc>tTc	p.S228F		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	228								p.A227S(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCGGTTGCTTCCTTCGTGCCC	0.642000														68			31		0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	379694	379694	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:379694C>T	uc001lpb.3	+	14	2490	c.2481C>T	c.(2479-2481)atC>atT	p.I827I		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	827						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-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;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTCACTTCATCGTGCCAGGTT	0.687000														17			4		0	0	1	0	0
MGMT	4255	broad.mit.edu	37	10	131506243	131506243	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:131506243C>T	uc001lkh.2	+	2	329	c.303C>T	c.(301-303)ttC>ttT	p.F101F		NM_002412	NP_002403	B4DEE8	B4DEE8_HUMAN	Homo sapiens O-6-methylguanine-DNA methyltransferase (MGMT), mRNA.	101										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		ATGCCTATTTCCACCAGCCCG	0.602000								Direct reversal of damage						37			64		0	0	1	0	0
PRMT5	10419	broad.mit.edu	37	14	23395389	23395389	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:23395389G>A	uc001whm.1	-	6	821	c.730C>T	c.(730-732)Cct>Tct	p.P244S	PRMT5_uc001whl.1_Missense_Mutation_p.P227S|PRMT5_uc010tnf.1_Missense_Mutation_p.P138S|PRMT5_uc010tnh.1_Missense_Mutation_p.P200S|PRMT5_uc010tng.1_Missense_Mutation_p.P183S|PRMT5_uc001whn.1_Intron	NM_006109	NP_006100	O14744	ANM5_HUMAN	Homo sapiens protein arginine methyltransferase 5 (PRMT5), transcript variant 1, mRNA.	244					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GAAAGAACAGGAAATCCCTTC	0.478000														86			22		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231102957	231102957	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:231102957C>T	uc002vql.3	+	2	382	c.267C>T	c.(265-267)gtC>gtT	p.V89V	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqj.3_Silent_p.V89V|SP140_uc002vqk.2_Silent_p.V89V|SP140_uc002vqn.3_Silent_p.V89V|SP140_uc002vqm.3_Silent_p.V89V|SP140_uc010fxl.3_Silent_p.V89V	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	89	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAAACCTGGTCCCAGTGACAA	0.378000														28			8		0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111034	55111034	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55111034C>T	uc010rie.2	+	0	358	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120C(2)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GGCCTATGATCGCTATGTGGC	0.463000														135			42		0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71522276	71522276	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:71522276C>T	uc001xmo.2	+	24	5079	c.4633C>T	c.(4633-4635)Cca>Tca	p.P1545S	PCNX_uc010are.1_Missense_Mutation_p.P1434S|PCNX_uc010arf.1_Missense_Mutation_p.P405S	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1545						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGATAGAAATCCAGGTAATAG	0.313000														45			58		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149500612	149500612	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:149500612C>T	uc010lpk.3	+	53	8004	c.8004C>T	c.(8002-8004)ccC>ccT	p.P2668P		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2671	TIL 4.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTGCCTGCCCCTCTCTGAGT	0.667000														26			17		0	0	1	0	0
GRXCR2	643226	broad.mit.edu	37	5	145239420	145239420	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:145239420C>T	uc003lns.1	-	2	623	c.623G>A	c.(622-624)tGc>tAc	p.C208Y		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA.	208										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GCACAGAGAGCAGGTGGCACT	0.552000														21			40		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124380692	124380692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:124380692G>A	uc001lgk.1	+	40	5123	c.5017G>A	c.(5017-5019)Gat>Aat	p.D1673N	DMBT1_uc001lgl.1_Missense_Mutation_p.D1663N|DMBT1_uc001lgm.1_Missense_Mutation_p.D1045N|DMBT1_uc021qaf.1_Missense_Mutation_p.D1673N|DMBT1_uc021qag.1_Missense_Mutation_p.D1663N|DMBT1_uc021qah.1_Missense_Mutation_p.D1045N|DMBT1_uc009xzz.1_Missense_Mutation_p.D1673N|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.D376N|DMBT1_uc009yac.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1673	SRCR 13.				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)				GGACACCAATGATGCCAATGT	0.612000														179			121		0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	144918699	144918699	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:144918699C>T	uc011chz.2	-	4		c.245_splice	c.e4+1		GYPA_uc003ijn.2_Silent_p.L120L|GYPA_uc010ioo.1_Intron|GYPA_uc010iop.2_Non-coding_Transcript|GYPA_uc011chv.1_Non-coding_Transcript|GYPA_uc011chw.1_Intron|GYPA_uc011chx.1_Non-coding_Transcript|GYPA_uc003ijm.1_Silent_p.L88L|GYPA_uc011chy.1_Non-coding_Transcript|GYPA_uc011chs.1_Intron|GYPA_uc011cht.1_Non-coding_Transcript|GYPA_uc011chu.1_Non-coding_Transcript			P02724	GLPA_HUMAN	Homo sapiens glycophorin B (MNS blood group) (GYPB), mRNA.						interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					TCACCTTTATCAGTCGGCGAA	0.368000														37			5		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55569108	55569108	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:55569108C>T	uc021pqw.1	-	35	5106	c.4711G>A	c.(4711-4713)Gaa>Aaa	p.E1571K	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Missense_Mutation_p.E1566K|PCDH15_uc021pqx.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					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)				TGCCACTCTTCACCCTCAAGG	0.423000										HNSCC(58;0.16)				50			17		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160042920	160042920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:160042920C>T	uc003lym.1	-	16	3425	c.2578G>A	c.(2578-2580)Gag>Aag	p.E860K	ATP10B_uc010jit.1_Missense_Mutation_p.E177K|ATP10B_uc003lyn.3_Missense_Mutation_p.E418K	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	860					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGGATGCCTCAGCCTCACGC	0.478000														41			10		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140984916	140984916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:140984916G>A	uc011mwp.2	+	6	1372	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	MAGEC3_uc004fbs.3_Missense_Mutation_p.E160K|MAGEC3_uc010nsj.3_Missense_Mutation_p.E160K|MAGEC3_uc022cfh.1_Missense_Mutation_p.E160K	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	458	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCCTGGATGAAAAGGTGGC	0.483000														30			24		0	0	1	0	0
FAM71F2	346653	broad.mit.edu	37	7	128317745	128317745	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:128317745C>T	uc003vnk.4	+	2	599	c.493C>T	c.(493-495)Caa>Taa	p.Q165*	FAM71F2_uc010llm.1_Nonsense_Mutation_p.Q156*|FAM71F2_uc003vnl.3_Non-coding_Transcript|FAM71F2_uc010lln.2_Non-coding_Transcript	NM_001012454	NP_001012457	Q6NXP2	F71F2_HUMAN	Homo sapiens family with sequence similarity 71, member F2 (FAM71F2), transcript variant 1, mRNA.	165										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						GATTGTGTTTCAATTCTGGGT	0.502000														31			21		0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46991887	46991887	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:46991887G>A	uc003oyt.3	-	4	543	c.344C>T	c.(343-345)tCa>tTa	p.S115L	GPR110_uc011dwl.2_5'UTR|GPR110_uc003oyu.1_Missense_Mutation_p.S115L	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	115					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ATCAAGGCATGAGGGAGGAAA	0.502000														29			31		0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55420731	55420731	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55420731C>T	uc002qib.2	+	3	521	c.483C>T	c.(481-483)tcC>tcT	p.S161S	NCR1_uc002qic.2_Silent_p.S161S|NCR1_uc002qie.2_Silent_p.S161S|NCR1_uc002qid.2_Silent_p.S66S|NCR1_uc002qif.2_Silent_p.S66S|NCR1_uc010esj.2_Silent_p.S54S	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	161	Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		AGGGAAGATCCAGCCACGTAC	0.567000														33			40		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51754519	51754519	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:51754519C>T	uc001ryk.2	-	5	1378	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	GALNT6_uc009zma.1_Intron|GALNT6_uc001ryl.1_Missense_Mutation_p.E385K|GALNT6_uc001ryj.1_5'Flank	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	385	Catalytic subdomain B.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AAGGACATTTCCACGTTCTCC	0.547000														24			24		0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66475056	66475056	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:66475056G>A	uc001ojd.3	-	11	1656	c.1584C>T	c.(1582-1584)ctC>ctT	p.L528L		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	528					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCAGGTTGAGGAGGAGCCGCT	0.627000														17			4		0	0	1	0	0
C20orf132	140699	broad.mit.edu	37	20	35731208	35731208	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:35731208G>A	uc010zvu.2	-	24	3102	c.3011C>T	c.(3010-3012)cCc>cTc	p.P1004L	C20orf132_uc002xgk.3_Missense_Mutation_p.P636L	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	0										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				GCACAGCGAGGGCTCAGGGTC	0.517000														149			42		0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215408381	215408381	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:215408381G>A	uc001hkq.3	+	6	1343	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	KCNK2_uc001hko.3_Missense_Mutation_p.E388K|KCNK2_uc009xdm.3_Non-coding_Transcript|KCNK2_uc001hkp.3_Non-coding_Transcript|KCNK2_uc001hkr.4_Missense_Mutation_p.E377K	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	Homo sapiens potassium channel, subfamily K, member 2 (KCNK2), transcript variant 3, mRNA.	392	Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).						outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CCTGACCAGCGAGAGGGATGT	0.517000														93			9		0	0	1	0	0
VENTX	27287	broad.mit.edu	37	10	135053508	135053508	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:135053508T>G	uc010quy.1	+	2	486	c.475T>G	c.(475-477)Ttc>Gtc	p.F159V		NM_014468	NP_055283	O95231	VENTX_HUMAN	Homo sapiens VENT homeobox (VENTX), mRNA.	159					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		GCACAGCCCCTTCTCGGGGTC	0.577000														22			33		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106918717	106918717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:106918717G>A	uc001kyi.1	+	10	1924	c.1697G>A	c.(1696-1698)aGc>aAc	p.S566N		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	566						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGAATCTCTAGCAAGGAGACA	0.423000														34			16		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55233016	55233016	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:55233016C>T	uc003tqk.3	+	14	2012	c.1766C>T	c.(1765-1767)cCc>cTc	p.P589L	EGFR_uc003tqi.3_Missense_Mutation_p.P589L|EGFR_uc003tqj.3_Missense_Mutation_p.P589L|EGFR_uc022adm.1_Missense_Mutation_p.P589L|EGFR_uc010kzg.2_Missense_Mutation_p.P544L|EGFR_uc022adn.1_Missense_Mutation_p.P544L|EGFR_uc011kco.2_Missense_Mutation_p.P536L|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	589					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.P589L(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATTGACGGCCCCCACTGCGTC	0.532000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				58			38		0	0	1	0	0
CSNK2A1	1457	broad.mit.edu	37	11	11373733	11373733	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:11373733G>A	uc001mjp.3	-	0	1172	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	GALNTL4_uc001mjo.2_Intron	NM_177559	NP_808227	P68400	CSK21_HUMAN	Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA.	312	Protein kinase.				Wnt receptor signaling pathway|axon guidance	NuRD complex|Sin3 complex|cytosol|plasma membrane	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GCAGTAAGCCGTGACTGGTGG	0.537000														62			9		0	0	1	0	0
NCL	4691	broad.mit.edu	37	2	232320841	232320841	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:232320841G>A	uc002vru.3	-	11	1853	c.1712C>T	c.(1711-1713)tCc>tTc	p.S571F	SNORA75_uc002vrv.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	571					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CAGAGTTTTGGATGGCTCTGG	0.433000														23			10		0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41573875	41573875	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:41573875C>T	uc003azl.4	+	30	6555	c.6160C>T	c.(6160-6162)Ctt>Ttt	p.L2054F		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	2054	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTTACAAAACCTTTTGCGGAC	0.537000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					73			28		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325460	79325460	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:79325460G>A	uc010mpk.3	-	7	1854	c.1730C>T	c.(1729-1731)cCc>cTc	p.P577L	PRUNE2_uc022bih.1_Missense_Mutation_p.P399L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	577					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTTATCTCTGGGACTGTCTTG	0.438000														14			12		0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851398	43851398	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:43851398G>A	uc010ggz.3	+	1	1182	c.1125G>A	c.(1123-1125)tcG>tcA	p.S375S	SEMG2_uc002xnk.3_Silent_p.S375S|SEMG2_uc002xnl.3_Silent_p.S375S	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	375	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GCAGTATTTCGATCCAAACTG	0.373000														37			6		0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36271327	36271327	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:36271327G>A	uc002obs.2	+	7	773	c.629G>A	c.(628-630)gGa>gAa	p.G210E	ARHGAP33_uc002obr.2_Missense_Mutation_p.G210E|ARHGAP33_uc002obt.2_Missense_Mutation_p.G74E|ARHGAP33_uc002obv.1_5'Flank	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	210	SH3.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TCCCAGGTGGGAGACATTGTC	0.642000														19			7		0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839927	27839927	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:27839927G>A	uc022bud.1	+	0	504	c.504G>A	c.(502-504)ctG>ctA	p.L168L	MAGEB10_uc004dbw.3_Silent_p.L168L	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA.	168	MAGE.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						GTCTTGACCTGAAGGAAGTGG	0.473000														31			25		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149489749	149489749	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:149489749G>A	uc010lpk.3	+	37	5796	c.5796G>A	c.(5794-5796)cgG>cgA	p.R1932R		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1935	TSP type-1 3.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGTCCTTCCGGAGCTCCAACA	0.692000														34			15		0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2075961	2075961	+	Silent	SNP	G	A	A	rs145807526		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:2075961G>A	uc002fub.1	-	12	3403	c.3348C>T	c.(3346-3348)acC>acT	p.T1116T	SMG6_uc010vqv.1_Silent_p.T208T|SMG6_uc002fud.2_Silent_p.T1085T	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	1116					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCTTATCCGAGGTTTTCTCCA	0.527000														65			17		0	0	1	0	0
IFIT1B	439996	broad.mit.edu	37	10	91143531	91143531	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:91143531G>A	uc001kgh.3	+	1	541	c.461G>A	c.(460-462)gGa>gAa	p.G154E	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 1B (IFIT1B), mRNA.	154							binding			endometrium(2)|large_intestine(3)|lung(8)	13						AAGTGTGGTGGAAAGAATTAT	0.498000														61			18		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61512325	61512325	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:61512325G>A	uc002ydr.2	-	15	5295	c.4983C>T	c.(4981-4983)ccC>ccT	p.P1661P	DIDO1_uc002yds.2_Silent_p.P1661P	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1661					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AAGGCGGTGTGGGCAGCAGCA	0.731000														32			5		0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55860149	55860149	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:55860149C>T	uc002eim.3	-	2	424	c.316G>A	c.(316-318)Gag>Aag	p.E106K	CES1_uc002eil.3_Missense_Mutation_p.E107K|CES1_uc002ein.3_Missense_Mutation_p.E106K	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	106				KEN -> PAD (in Ref. 14; AA sequence).	response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GGAATGTTCTCCTTTCGGTTT	0.493000														168			43		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179431872	179431872	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179431872G>A	uc021vsy.1	-	274	71508	c.71283C>T	c.(71281-71283)acC>acT	p.T23761T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.T17456T|TTN_uc021vta.1_Silent_p.T17389T|TTN_uc021vtb.1_Silent_p.T17264T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24688							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)			CAAGTCGACTGGTTTCTCGCT	0.403000														61			40		0	0	1	0	0
ANP32AP1	723972	broad.mit.edu	37	15	35530214	35530214	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:35530214G>A	uc001ziy.3	+	0		c.688G>A								Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member A pseudogene 1 (ANP32AP1), non-coding RNA.																		AGAAGAAAGGGGTCAGAAGCG	0.423000														25			10		0	0	1	0	0
C3orf14	57415	broad.mit.edu	37	3	62319002	62319002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:62319002C>T	uc003dlf.3	+	5	469	c.325C>T	c.(325-327)Cct>Tct	p.P109S	C3orf14_uc010hnq.3_Missense_Mutation_p.P109S|C3orf14_uc003dlg.3_Missense_Mutation_p.P109S	NM_020685	NP_065736	Q9HBI5	CC014_HUMAN	Homo sapiens chromosome 3 open reading frame 14 (C3orf14), mRNA.	109										central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		AGCACCATATCCTTTTGCTGT	0.333000														12			29		0	0	1	0	0
ZNF623	9831	broad.mit.edu	37	8	144733464	144733464	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:144733464C>T	uc003yzd.2	+	0	1511	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	ZNF623_uc011lkp.1_Silent_p.F434F|ZNF623_uc003yzc.2_Silent_p.F434F	NM_014789	NP_055604	O75123	ZN623_HUMAN	Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGTCAAACTTCCTTCAACACC	0.398000														48			16		0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	98994205	98994205	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:98994205G>A	uc010fij.3	+	1	145	c.4G>A	c.(4-6)Gag>Aag	p.E2K	CNGA3_uc002syt.3_Missense_Mutation_p.E53K|CNGA3_uc002syu.3_Missense_Mutation_p.E53K			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	0					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GATCGCCATGGAGACCAGAGG	0.592000														25			5		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985153	140985153	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:140985153C>T	uc011mwp.2	+	6	1609	c.1609C>T	c.(1609-1611)Ctg>Ttg	p.L537L	MAGEC3_uc004fbs.3_Silent_p.L239L|MAGEC3_uc010nsj.3_Silent_p.L239L|MAGEC3_uc022cfh.1_Silent_p.L239L	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	537	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGGGAAGCCTGATTGATGA	0.473000														59			68		0	0	1	0	0
SLC30A4	7782	broad.mit.edu	37	15	45781181	45781181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:45781181G>A	uc001zvj.3	-	4	1064	c.752C>T	c.(751-753)tCa>tTa	p.S251L		NM_013309	NP_037441	O14863	ZNT4_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 4 (SLC30A4), mRNA.	251					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)		AGGGGAATTTGAAGGCAGGGA	0.448000														43			20		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87038587	87038587	+	Silent	SNP	G	A	A	rs149043617		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:87038587G>A	uc003uiv.1	-	23	3122	c.3046C>T	c.(3046-3048)Ctg>Ttg	p.L1016L	ABCB4_uc003uiw.1_Silent_p.L1016L|ABCB4_uc003uix.1_Silent_p.L969L	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	1016					cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.L1016L(2)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTGTCAATCAGAGGTTGTCTT	0.458000														88			27		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488514	108488514	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:108488514G>A	uc010ywk.2	+	19	4136	c.4054G>A	c.(4054-4056)Gaa>Aaa	p.E1352K	RGPD4_uc002tdu.3_Missense_Mutation_p.E539K|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1352	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CAGTGGTGAGGAAAATGAAAA	0.368000														176			59		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1016812	1016812	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:1016812T>C	uc001lsw.2	-	30	6040	c.5989A>G	c.(5989-5991)Acc>Gcc	p.T1997A		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1997	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGATGGGGTTGGATAGGTA	0.542000														830			22		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115767064	115767064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:115767064G>A	uc003ibu.3	-	9	2709	c.2030C>T	c.(2029-2031)cCa>cTa	p.P677L	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	677	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.A676S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGCTCGTCTTGGAGCTTCTTC	0.453000														45			59		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900873	51900873	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:51900873G>A	uc002iua.2	+	0	635	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	160					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.Q159K(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						CAGGAGCAGCGGGAAAAGCGC	0.552000														88			31		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83497758	83497758	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:83497758C>T	uc001paj.2	-	12	1788	c.1485G>A	c.(1483-1485)acG>acA	p.T495T	DLG2_uc001pai.2_Silent_p.T392T|DLG2_uc010rsy.1_Silent_p.T462T|DLG2_uc021qof.1_Silent_p.T534T|DLG2_uc010rsz.1_Silent_p.T495T|DLG2_uc010rta.1_Silent_p.T495T|DLG2_uc001pak.2_Silent_p.T600T|DLG2_uc010rtb.1_Silent_p.T462T|DLG2_uc001pal.1_Silent_p.T495T|DLG2_uc001pam.2_Silent_p.T534T	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	495	PDZ 3.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GTGCTATAATCGTCACTGTCT	0.453000														39			13		0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53208331	53208331	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53208331G>A	uc002pzz.3	-	6	2294	c.1977C>T	c.(1975-1977)ttC>ttT	p.F659F	ZNF611_uc010eqc.3_Silent_p.F589F|ZNF611_uc010ydo.2_Silent_p.F589F|ZNF611_uc010ydp.2_Silent_p.F659F|ZNF611_uc010ydq.2_Silent_p.F659F|ZNF611_uc010ydr.2_Silent_p.F590F|ZNF611_uc002qaa.4_Silent_p.F589F|ZNF611_uc021uyy.1_Silent_p.F590F	NM_030972	NP_001154973	Q8N823	ZN611_HUMAN	Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA.	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AATTACGCACGAAAGCCTTGT	0.408000														96			30		0	0	1	0	0
SLC24A6	80024	broad.mit.edu	37	12	113758212	113758212	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:113758212G>A	uc001tvc.3	-	6	828	c.618C>T	c.(616-618)atC>atT	p.I206I	SLC24A6_uc001tuz.3_5'Flank|SLC24A6_uc001tva.3_Non-coding_Transcript|SLC24A6_uc001tvb.3_Intron	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	206					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						TGTAGAAAACGATGTCCCTGA	0.622000														217			69		0	0	1	0	0
C2orf55	343990	broad.mit.edu	37	2	99448966	99448966	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:99448966G>A	uc002szf.1	-	4	679	c.385C>T	c.(385-387)Cag>Tag	p.Q129*		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	129								p.I128fs*4(1)		NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						ACATTACACTGTATTTTTAAC	0.473000														13			31		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20739682	20739682	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:20739682G>A	uc010kuh.3	+	19	2497	c.2260_splice	c.e19-1	p.G754_splice	ABCB5_uc003suw.4_Splice_Site_p.G309_splice	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	309	ABC transporter 2.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GCTTTTCAGGGATTATTTTAC	0.313000														72			17		0	0	1	0	0
ZNF713	349075	broad.mit.edu	37	7	56007289	56007289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:56007289C>T	uc003tra.2	+	6	1729	c.922C>T	c.(922-924)Cac>Tac	p.H308Y	ZNF713_uc003trc.1_Missense_Mutation_p.H295Y	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Homo sapiens zinc finger protein 713 (ZNF713), mRNA.	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCAGAGAATTCACACAGGAGA	0.428000														39			84		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11364916	11364916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:11364916G>A	uc003jfa.1	-	7	1409	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S	CTNND2_uc010itt.2_Missense_Mutation_p.P331S|CTNND2_uc011cmy.1_Missense_Mutation_p.P85S|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	422					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.P422P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCATAGATGGGATCTATGTGG	0.602000														36			59		0	0	1	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671701	112671701	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:112671701G>A	uc003pvx.1	+	2	1103	c.791G>A	c.(790-792)tGa>tAa	p.*264*	RFPL4B_uc021zdy.1_Splice_Site_p.*264_splice	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	Homo sapiens ret finger protein-like 4B (RFPL4B), mRNA.	0							zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		ATCTGCCCATGAGAAAGTCAG	0.463000														17			13		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62287916	62287916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:62287916G>A	uc001ntl.3	-	4	14273	c.13973C>T	c.(13972-13974)cCc>cTc	p.P4658L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4658					nervous system development	nucleus	protein binding	p.P4658P(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCTGAACTTGGGCATTTTCAC	0.522000														252			74		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144941995	144941995	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:144941995C>T	uc003zaa.1	-	0	5440	c.5427G>A	c.(5425-5427)agG>agA	p.R1809R		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1809						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)			GCTCCCGCTTCCTGTCCTCTG	0.527000														57			43		0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55594723	55594723	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55594723C>T	uc001nhy.1	+	0	29	c.29C>T	c.(28-30)gCt>gTt	p.A10V		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A10S(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ACCACTGTGGCTGAGTTCATT	0.413000										HNSCC(27;0.073)				112			92		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121929979	121929979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:121929979C>T	uc004bkc.2	-	7	2125	c.1669G>A	c.(1669-1671)Gac>Aac	p.D557N		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	557					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						AACATGGGGTCCAGGCTGCTG	0.552000														2			28		0	0	1	0	0
IGVK-A2	0	broad.mit.edu	37	2	89987080	89987080	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:89987080C>T	uc002stn.1	+	1		c.301_splice	c.e1+1		abParts_uc010yts.2_Intron					Homo sapiens clone BC7 immunoglobulin kappa light chain (IGVK-A2) mRNA, IGVK-A2c allele, partial cds.																		ACAGCTTCCTCCCACAGTGGT	0.542000														22			12		0	0	1	0	0
IDH3G	3421	broad.mit.edu	37	X	153055703	153055703	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:153055703G>A	uc004fip.3	-	3	366	c.180C>T	c.(178-180)atC>atT	p.I60I	IDH3G_uc004fiq.3_Silent_p.I60I|IDH3G_uc004fit.1_Silent_p.I60I|IDH3G_uc004fiu.3_5'Flank	NM_004135	NP_004126	P51553	IDH3G_HUMAN	Homo sapiens isocitrate dehydrogenase 3 (NAD+) gamma (IDH3G), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	60					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|NAD binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CATCCCCTGGGATCATGGTCA	0.657000														2			39		0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122766756	122766756	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:122766756G>A	uc003ied.3	-	10	1317	c.1133C>T	c.(1132-1134)tCc>tTc	p.S378F	BBS7_uc003iee.2_Missense_Mutation_p.S378F	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Homo sapiens Bardet-Biedl syndrome 7 (BBS7), transcript variant 1, mRNA.	378					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TATACCAAAGGAAGGTACTGC	0.348000									Bardet-Biedl syndrome					61			20		0	0	1	0	0
KIAA1653	0	broad.mit.edu	37	22	20293997	20293997	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:20293997C>T	uc002zrw.1	+	0		c.2437C>T								Homo sapiens mRNA for KIAA1653 protein, partial cds.																		GACAGGACAGCTGGAGCCCCT	0.622000														57			13		0	0	1	0	0
FBXW11	23291	broad.mit.edu	37	5	171299925	171299925	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:171299925G>A	uc003mbm.1	-	8	1599	c.1228C>T	c.(1228-1230)Cag>Tag	p.Q410*	FBXW11_uc011dey.1_Nonsense_Mutation_p.Q378*|FBXW11_uc003mbl.1_Nonsense_Mutation_p.Q397*|FBXW11_uc003mbn.1_Nonsense_Mutation_p.Q376*	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	Homo sapiens F-box and WD repeat domain containing 11 (FBXW11), transcript variant 3, mRNA.	410					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway|cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process	SCF ubiquitin ligase complex|centrosome|cytosol|nucleus	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCCCTGTACTGGAGACAGGCA	0.453000														35			13		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47525183	47525183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:47525183G>A	uc003gxk.1	+	3	804	c.640G>A	c.(640-642)Gga>Aga	p.G214R	ATP10D_uc003gxj.3_Missense_Mutation_p.G214R	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	214					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGGTCTTGATGGAGAGAGCAA	0.433000														42			12		0	0	1	0	0
FAM57B	83723	broad.mit.edu	37	16	30040821	30040821	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:30040821G>A	uc002dvt.3	-	1	479	c.141C>T	c.(139-141)gtC>gtT	p.V47V	BOLA2_uc010bzb.1_Intron	NM_031478	NP_113666	Q71RH2	FA57B_HUMAN	Homo sapiens family with sequence similarity 57, member B (FAM57B), mRNA.	47	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TGATGGCCTGGACAGAGGACA	0.587000														20			5		0	0	1	0	0
KRT24	192666	broad.mit.edu	37	17	38859777	38859777	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:38859777T>C	uc002hvd.3	-	0	226	c.169A>G	c.(169-171)Agc>Ggc	p.S57G		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	Homo sapiens keratin 24 (KRT24), mRNA.	57	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity	p.S57S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				AAAGCACCGCTAGACCCCCCA	0.637000														24			38		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209796985	209796985	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:209796985C>T	uc001hhg.3	-	14	2613	c.2223G>A	c.(2221-2223)caG>caA	p.Q741Q	LAMB3_uc009xco.3_Silent_p.Q741Q|LAMB3_uc001hhh.3_Silent_p.Q741Q|LAMB3_uc010psl.1_Non-coding_Transcript|MIR4260_uc021pil.1_5'Flank	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	741	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TGTCCCTGAGCTGGTCCAAAA	0.662000														37			17		0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161324264	161324264	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:161324264G>A	uc010jiw.3	+	10	1675	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	GABRA1_uc010jix.3_Missense_Mutation_p.E403K|GABRA1_uc010jiy.3_Missense_Mutation_p.E403K|GABRA1_uc003lyx.4_Missense_Mutation_p.E403K|GABRA1_uc010jiz.3_Missense_Mutation_p.E403K|GABRA1_uc010jja.3_Missense_Mutation_p.E403K|GABRA1_uc010jjb.3_Missense_Mutation_p.E403K	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	403					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.E403K(2)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GGTCAAGCCCGAAACAAAACC	0.473000														31			70		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34060901	34060901	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:34060901C>T	uc001zhi.3	+	60	8818	c.8748C>T	c.(8746-8748)tcC>tcT	p.S2916S	RYR3_uc010bar.3_Silent_p.S2916S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2916					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.I2915L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACAGAATTTCCCTCTTTGGTA	0.448000														118			14		0	0	1	0	0
KRT32	3882	broad.mit.edu	37	17	39616371	39616371	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:39616371G>A	uc002hwr.3	-	6	1399	c.1338C>T	c.(1336-1338)ggC>ggT	p.G446G		NM_002278	NP_002269	Q14532	K1H2_HUMAN	Homo sapiens keratin 32 (KRT32), mRNA.	446	Tail.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				TTCAGTAGCGGCCCTGGGGGC	0.667000														23			18		0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123811241	123811241	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:123811241G>A	uc001pzk.1	+	0	918	c.918G>A	c.(916-918)aaG>aaA	p.K306K		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGAGGAAAAAGGACCCTATTG	0.493000														33			13		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394051	154394051	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:154394051G>A	uc010jih.1	+	0	792	c.632G>A	c.(631-633)cGa>cAa	p.R211Q		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	211	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGTCGTCCCGATCTCATGCC	0.468000														79			19		0	0	1	0	0
PNPLA5	150379	broad.mit.edu	37	22	44285212	44285212	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:44285212G>A	uc003beg.3	-	3	832	c.699C>T	c.(697-699)ctC>ctT	p.L233L	PNPLA5_uc003beh.3_Silent_p.L119L|PNPLA5_uc021wqw.1_Silent_p.L233L|PNPLA5_uc021wqx.1_Silent_p.L119L|PNPLA5_uc011aqc.2_Silent_p.L93L	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	Homo sapiens patatin-like phospholipase domain containing 5 (PNPLA5), transcript variant 1, mRNA.	233					lipid catabolic process		hydrolase activity	p.L233I(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GACCTACCTCGAGGCTGGGGG	0.582000														50			29		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124329690	124329690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:124329690C>T	uc001lgk.1	+	2	210	c.104C>T	c.(103-105)cCc>cTc	p.P35L	DMBT1_uc001lgl.1_Missense_Mutation_p.P35L|DMBT1_uc001lgm.1_Missense_Mutation_p.P35L|DMBT1_uc021qaf.1_Missense_Mutation_p.P35L|DMBT1_uc021qag.1_Missense_Mutation_p.P35L|DMBT1_uc021qah.1_Missense_Mutation_p.P35L|DMBT1_uc009xzz.1_Missense_Mutation_p.P35L|DMBT1_uc010qtx.1_Missense_Mutation_p.P35L|DMBT1_uc009yaa.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	35					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)				TCACTGATTCCCTCGGAGGTG	0.552000														79			18		0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150501930	150501930	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:150501930G>A	uc003whx.1	+	6	760	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K		NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	228						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGACCAGAAGGAAATGTTGGA	0.522000														40			54		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234545403	234545403	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:234545403A>G	uc002vur.3	+	0	281	c.235A>G	c.(235-237)Acc>Gcc	p.T79A	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Missense_Mutation_p.T79A	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	81					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GACTTACTCAACCTCGTACAC	0.453000														53			12		0	0	1	0	0
TMEM98	26022	broad.mit.edu	37	17	31260281	31260281	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:31260281T>A	uc002hhq.3	+	3	679	c.221T>A	c.(220-222)aTt>aAt	p.I74N	TMEM98_uc002hhr.3_Missense_Mutation_p.I74N	NM_015544	NP_056359	Q9Y2Y6	TMM98_HUMAN	Homo sapiens transmembrane protein 98 (TMEM98), transcript variant 1, mRNA.	74						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			AACCCCCACATTGAGGCCATT	0.522000														124			21		0	0	1	0	0
PARP3	10039	broad.mit.edu	37	3	51979198	51979198	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:51979198C>T	uc003dby.3	+	5	1190	c.819C>T	c.(817-819)atC>atT	p.I273I	PARP3_uc003dbz.3_Silent_p.I280I	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 3 (PARP3), transcript variant 2, mRNA.	273	PARP alpha-helical.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCCCGCCCATCAATTCCCCTG	0.627000														51			32		0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147703923	147703923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:147703923C>T	uc003qlz.3	+	26	3378	c.3203C>T	c.(3202-3204)tCg>tTg	p.S1068L	STXBP5_uc010khz.2_Missense_Mutation_p.S1032L|STXBP5_uc003qly.3_Missense_Mutation_p.S723L	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	1068					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GTTGGAGAATCGTCCTCAGGA	0.383000														59			39		0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27997672	27997672	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:27997672G>A	uc004dbx.1	-	0	1895	c.1780C>T	c.(1780-1782)Cga>Tga	p.R594*		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	594										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CACTGCACTCGATCTTGGCCC	0.478000														12			13		0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55028054	55028054	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:55028054T>A	uc002xxp.2	+	5	2047	c.1822T>A	c.(1822-1824)Tgt>Agt	p.C608S	CASS4_uc002xxq.4_Missense_Mutation_p.C608S|CASS4_uc010zze.1_Missense_Mutation_p.C554S|CASS4_uc002xxr.2_Missense_Mutation_p.C608S|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	608					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AGAATTTAAGTGTGAAAAATA	0.433000														58			8		0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131669450	131669450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:131669450C>T	uc004bwl.4	+	2	261	c.7C>T	c.(7-9)Ccg>Tcg	p.P3S	LRRC8A_uc010myp.3_Missense_Mutation_p.P3S|LRRC8A_uc010myq.3_Missense_Mutation_p.P3S	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.	3					pre-B cell differentiation	integral to membrane		p.I2I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AACCATGATTCCGGTGACAGA	0.542000														1			23		0	0	1	0	0
TAS2R13	50838	broad.mit.edu	37	12	11061756	11061756	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11061756G>A	uc001qzg.1	-	0	406	c.142C>T	c.(142-144)Ctc>Ttc	p.L48F	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron	NM_023920	NP_076409	Q9NYV9	T2R13_HUMAN	Homo sapiens taste receptor, type 2, member 13 (TAS2R13), mRNA.	48					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AAGATAATGAGGAGTTTATCG	0.393000														32			10		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68191088	68191088	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:68191088G>A	uc001ont.3	+	13	3234	c.3159G>A	c.(3157-3159)ctG>ctA	p.L1053L	LRP5_uc009ysg.3_Silent_p.L463L	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1053	Beta-propeller 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCACAGGCTGAGCGGGGAAG	0.647000														95			32		0	0	1	0	0
KLK8	11202	broad.mit.edu	37	19	51503756	51503756	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51503756G>A	uc002puq.1	-	2	475	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	KLK9_uc002puw.1_Non-coding_Transcript|KLK8_uc002pur.1_Nonsense_Mutation_p.Q52*|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Nonsense_Mutation_p.Q52*|KLK8_uc002puv.1_Intron	NM_144505	NP_653088	O60259	KLK8_HUMAN	Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.	52	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TGCTGGCCCTGGAACAAGGCC	0.607000														47			28		0	0	1	0	0
EFNA3	1944	broad.mit.edu	37	1	155041574	155041574	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155041574A>C	uc001fhc.3	+	3	636	c.549A>C	c.(547-549)caA>caC	p.Q183H	EFNA3_uc010pew.2_Intron|EFNA3_uc001fhd.3_3'UTR|EFNA3_uc001fhe.3_Missense_Mutation_p.K190T	NM_182689	NP_872631	P52797	EFNA3_HUMAN	Homo sapiens ephrin-A4 (EFNA4), transcript variant 2, mRNA.	0					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	p.P182T(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAGACCGACAAGATGGAGCAT	0.587000														74			53		0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58813147	58813147	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:58813147C>T	uc001xdp.3	+	12	1252	c.998C>T	c.(997-999)cCa>cTa	p.P333L	ARID4A_uc001xdo.3_Missense_Mutation_p.P333L|ARID4A_uc001xdq.3_Missense_Mutation_p.P333L|ARID4A_uc010apg.1_Missense_Mutation_p.P11L	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	333	ARID.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATCAACAAACCACCTGTTTTG	0.318000														28			5		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40727061	40727061	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:40727061C>T	uc002xkg.3	-	27	4030	c.3846_splice	c.e27+1	p.Q1282_splice	PTPRT_uc010ggj.3_Splice_Site_p.Q1301_splice|PTPRT_uc010ggi.3_Splice_Site_p.Q485_splice	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1282	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTCCTCCTACCTGGGCAGTGT	0.602000														68			17		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160763709	160763709	+	Silent	SNP	C	T	T	rs138163747	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:160763709C>T	uc003lys.1	-	6	827	c.609G>A	c.(607-609)acG>acA	p.T203T	GABRB2_uc011deh.1_Silent_p.T42T|GABRB2_uc003lyr.1_Silent_p.T203T|GABRB2_uc003lyt.1_Silent_p.T203T|GABRB2_uc021yhg.1_Silent_p.T140T	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	203					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GTTCAATTTTCGTTACTCCTG	0.378000														57			13		0	0	1	0	0
SYCN	342898	broad.mit.edu	37	19	39694680	39694680	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:39694680T>C	uc002okr.2	-	0	227	c.215A>G	c.(214-216)aAc>aGc	p.N72S		NM_001080468	NP_001073937	Q0VAF6	SYCN_HUMAN	Homo sapiens syncollin (SYCN), mRNA.	72					exocytosis	transport vesicle membrane				endometrium(1)|kidney(1)	2	all_cancers(60;7.32e-07)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|all_epithelial(25;8.97e-07)|Ovarian(47;0.0454)		Epithelial(26;1.34e-25)|all cancers(26;9.31e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GTTGGCCCAGTTGGAGGGCAG	0.662000														23			6		0	0	1	0	0
CIB3	117286	broad.mit.edu	37	19	16275693	16275693	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:16275693C>T	uc002nds.3	-	4	378	c.378G>A	c.(376-378)tgG>tgA	p.W126*	CIB3_uc010eae.3_Nonsense_Mutation_p.W65*|CIB3_uc010eaf.3_Non-coding_Transcript|CIB3_uc010eag.3_Nonsense_Mutation_p.W77*	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA.	126	EF-hand 2.						calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						GCTCCAGGTCCCACGCACAAA	0.597000														64			15		0	0	1	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43827033	43827033	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:43827033G>A	uc001zrw.3	-	30	4345	c.4141C>T	c.(4141-4143)Cag>Tag	p.Q1381*	PPIP5K1_uc021sjw.1_Nonsense_Mutation_p.Q1356*|PPIP5K1_uc001zrx.2_Nonsense_Mutation_p.Q1354*|PPIP5K1_uc001zry.4_Nonsense_Mutation_p.Q1356*|PPIP5K1_uc021sjx.1_Nonsense_Mutation_p.Q310*	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 1 (PPIP5K1), transcript variant 5, mRNA.	1381					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						TGGTATGGCTGGATGACCTCC	0.527000														81			46		0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45868162	45868162	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45868162G>A	uc002pbj.2	-	6	575	c.528C>T	c.(526-528)aaC>aaT	p.N176N	ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Intron|ERCC2_uc002pbk.2_Silent_p.N152N|ERCC2_uc002pbl.4_Silent_p.N152N|ERCC2_uc010xxj.1_Intron	NM_000400	NP_000391	P18074	ERCC2_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 1, mRNA.	176	Helicase ATP-binding.				UV protection|cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	MMXD complex|cytoplasm|holo TFIIH complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGTCATCCAGGTTGTAGATGC	0.652000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					26			19		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55566674	55566674	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:55566674G>A	uc010qhq.2	-	34	5103	c.4708C>T	c.(4708-4710)Cga>Tga	p.R1570*	PCDH15_uc010qhr.2_Nonsense_Mutation_p.R1565*	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant K, mRNA.	425					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)				CCTCCCAGTCGAACAGGGGAA	0.453000										HNSCC(58;0.16)				83			56		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114117600	114117600	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:114117600C>T	uc003ibe.4	+	2	363	c.263C>T	c.(262-264)tCc>tTc	p.S88F	ANK2_uc003ibd.4_Missense_Mutation_p.S67F|ANK2_uc003ibf.4_Missense_Mutation_p.S88F|ANK2_uc003ibc.2_Missense_Mutation_p.S64F|ANK2_uc011cgb.1_Missense_Mutation_p.S103F	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	88					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGAAGAGGGTCCTCTGTGGAT	0.423000														59			11		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117199657	117199657	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:117199657C>T	uc003vjd.3	+	10	1664	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	CFTR_uc011knq.2_5'UTR|CFTR_uc003vje.1_Non-coding_Transcript	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	511	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTTGGTGTTTCCTATGATGAA	0.358000									Cystic Fibrosis					37			22		0	0	1	0	0
LOC146880	146880	broad.mit.edu	37	17	62754738	62754738	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:62754738G>A	uc010wqc.2	-	6		c.1612C>T								Homo sapiens Rho GTPase activating protein 27 pseudogene (LOC146880), non-coding RNA.																		GAGACAAAGGGAGAAAGCTAA	0.378000														89			18		0	0	1	0	0
GALNT3	2591	broad.mit.edu	37	2	166606258	166606258	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:166606258G>A	uc010fph.1	-	9	2160	c.1773C>T	c.(1771-1773)atC>atT	p.I591I		NM_004482	NP_004473	Q14435	GALT3_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (GALNT3), mRNA.	591	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						GTACCTTCTGGATCTCCCATA	0.393000														82			47		0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758290	5758290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5758290G>A	uc001mbt.2	+	0	613	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|OR56B1_uc001mbs.1_Missense_Mutation_p.E182K|OR56B1_uc009yev.1_Missense_Mutation_p.E182K	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CTCCAAGAATGAAATTGAACA	0.483000														38			24		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178541284	178541284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:178541284C>T	uc003mjw.3	-	21	3322	c.3220G>A	c.(3220-3222)Gaa>Aaa	p.E1074K		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	1074	PLAC.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GACAAGACTTCCATCCTACAG	0.493000														17			24		0	0	1	0	0
RUFY1	80230	broad.mit.edu	37	5	179018724	179018724	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:179018724G>A	uc003mka.1	+	9	1227	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E	RUFY1_uc003mkb.1_Silent_p.E301E|RUFY1_uc003mkc.1_Silent_p.E301E|RUFY1_uc003mkd.1_Silent_p.E11E	NM_025158	NP_001035542	Q96T51	RUFY1_HUMAN	Homo sapiens RUN and FYVE domain containing 1 (RUFY1), transcript variant 1, mRNA.	409					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	p.E408K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTAAAAGAGGAGAAGAAAG	0.428000										HNSCC(44;0.11)				48			18		0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62688103	62688103	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:62688103C>T	uc003peg.2	-	3	598	c.351G>A	c.(349-351)agG>agA	p.R117R		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	117	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCCCACTCTTCCTTAGTTCTT	0.358000														23			12		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14823163	14823163	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:14823163G>A	uc003zlm.3	-	13	3148	c.2332C>T	c.(2332-2334)Cct>Tct	p.P778S	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	778					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CATACCTCAGGAACTTGATTG	0.403000														12			13		0	0	1	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43475369	43475369	+	Silent	SNP	C	T	T	rs141908251		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:43475369C>T	uc002iix.3	-	9	1214	c.765G>A	c.(763-765)tcG>tcA	p.S255S	ARHGAP27_uc010dak.3_Silent_p.S228S|ARHGAP27_uc010wjl.1_Silent_p.S374S	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Homo sapiens Rho GTPase activating protein 27 (ARHGAP27), transcript variant 1, mRNA.	596	WW 1.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	p.D254G(1)		endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					TGATGGCCTCCGAGTCGTGCT	0.632000														54			34		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109795155	109795155	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:109795155C>A	uc001dxa.4	+	0	2515	c.2454C>A	c.(2452-2454)gaC>gaA	p.D818E		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	818	Cadherin 7.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCCTGCGAGACTCCTACCAGG	0.542000														157			105		6.23761e-45	6.32865e-45	1	1	0
FMNL2	114793	broad.mit.edu	37	2	153481956	153481956	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:153481956G>A	uc002tye.3	+	15	2209	c.1842G>A	c.(1840-1842)gtG>gtA	p.V614V	FMNL2_uc010fob.3_Silent_p.V70V|FMNL2_uc002tyf.3_Silent_p.V63V	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	614					actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CTTTAGCTGTGAAAATTAAGA	0.418000														16			5		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62675881	62675881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:62675881G>A	uc021ooc.1	+	4	1870	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K	L1TD1_uc001dae.4_Missense_Mutation_p.E479K	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	479	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TTCTGAATCAGAGGAGGAAGA	0.413000														1			23		0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96800166	96800166	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:96800166G>A	uc001yfi.3	-	7	1431	c.1066C>T	c.(1066-1068)Cga>Tga	p.R356*		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	356										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGCATGGGTCGATTTTTCCTA	0.348000														56			22		0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45297532	45297532	+	Silent	SNP	G	A	A	rs148527231		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45297532G>A	uc002ozs.3	+	8	1419	c.1356G>A	c.(1354-1356)ccG>ccA	p.P452P	CBLC_uc010ejt.3_Silent_p.P406P	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	452					cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.P452P(2)		breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				ATGCCCAGCCGAAAGTGGTGA	0.662000			M		AML									114			132		0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74497348	74497348	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:74497348G>A	uc002fcx.3	-	19	2747	c.2697C>T	c.(2695-2697)acC>acT	p.T899T	GLG1_uc002fcw.4_Silent_p.T888T|GLG1_uc002fcy.4_Silent_p.T899T|GLG1_uc002fcz.4_Silent_p.T316T	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	899						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ACTGCAACATGGTTTTAGAAT	0.403000														13			13		0	0	1	0	0
SH2B2	10603	broad.mit.edu	37	7	101957705	101957705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:101957705C>T	uc011kko.2	+	5	1151	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F		NM_020979	NP_066189	O14492	SH2B2_HUMAN	Homo sapiens SH2B adaptor protein 2 (SH2B2), mRNA.	413					blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						CTGGAGCTATCCGACTACCCA	0.632000														21			10		0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153909204	153909204	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:153909204C>T	uc001fdd.1	-	15	2654	c.2253G>A	c.(2251-2253)cgG>cgA	p.R751R		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	751										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCTGTGCCATCCGCTGTGCAA	0.517000														17			7		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97045493	97045493	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:97045493G>A	uc021rcc.1	+	2	353	c.275G>A	c.(274-276)aGc>aAc	p.S92N				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	92										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTTCCTATTAGCCAAGATGGT	0.373000														12			16		0	0	1	0	0
TREML5P	221438	broad.mit.edu	37	6	41217213	41217213	+	RNA	SNP	C	T	T	rs61734087		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:41217213C>T	uc003oqe.1	+	0		c.99C>T								Homo sapiens triggering receptor expressed on myeloid cells-like 2 pseudogene 1 (TREML2P1), non-coding RNA.																		AGCCTGGTTTCACCCAAGTCT	0.562000														88			12		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256431	140256431	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140256431C>T	uc003lic.2	+	0	1501	c.1374C>T	c.(1372-1374)ccC>ccT	p.P458P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.P458P	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	472	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCGCAGCCCGAGTACACAG	0.657000														113			30		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764729	92764729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:92764729C>T	uc003umh.1	-	4	1772	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	SAMD9L_uc003umj.1_Missense_Mutation_p.E186K|SAMD9L_uc003umi.1_Missense_Mutation_p.E186K|SAMD9L_uc010lfb.1_Missense_Mutation_p.E186K|SAMD9L_uc003umk.1_Missense_Mutation_p.E186K|SAMD9L_uc010lfc.1_Missense_Mutation_p.E186K|SAMD9L_uc010lfd.1_Missense_Mutation_p.E186K|SAMD9L_uc022ahh.1_Missense_Mutation_p.E186K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	186										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GCTCCTGTTTCAGGTTGTAGA	0.393000														90			28		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57258022	57258022	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:57258022G>A	uc001cym.4	-	1	870	c.464C>T	c.(463-465)tCa>tTa	p.S155L	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.S155L	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	155										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GAGAAGGGCTGAAGACATTTC	0.448000														8			44		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188876	32188876	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:32188876C>T	uc003obb.3	-	3	817	c.678G>A	c.(676-678)caG>caA	p.Q226Q	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Silent_p.Q226Q	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	226	EGF-like 5; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTGGACCCTCCTGCCCCACAG	0.632000														356			224		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7585083	7585083	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:7585083C>T	uc010sge.2	-	3	751	c.725G>A	c.(724-726)tGg>tAg	p.W242*	CD163L1_uc001qsy.3_Nonsense_Mutation_p.W232*	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	232	SRCR 2.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCTGCAATTCCAGAGTGCCAA	0.433000														46			10		0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	3937095	3937095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:3937095G>A	uc003zhx.1	-	4	2518	c.1805C>T	c.(1804-1806)cCg>cTg	p.P602L	GLIS3_uc010mhf.1_5'UTR|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Missense_Mutation_p.P447L|GLIS3_uc003zhy.1_Missense_Mutation_p.P380L|GLIS3_uc003zhz.1_Missense_Mutation_p.P380L	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	447					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CTGACAACCCGGATGCTGGCA	0.532000														9			50		0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38309472	38309472	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:38309472C>T	uc010gnb.3	-	4	1687	c.273G>A	c.(271-273)agG>agA	p.R91R	HLCS_uc021wjb.1_Silent_p.R91R|HLCS_uc002yvs.3_Silent_p.R91R|HLCS_uc010gnc.2_Silent_p.R238R	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	91					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GGCCCCCTCCCCTGTCACTGT	0.547000														51			16		0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64140414	64140414	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:64140414G>A	uc002scq.3	-	17	2528	c.2365C>T	c.(2365-2367)Ctt>Ttt	p.L789F	VPS54_uc002scp.3_Missense_Mutation_p.L777F|VPS54_uc002scn.3_5'UTR|VPS54_uc002sco.3_Missense_Mutation_p.L274F|VPS54_uc010fct.3_Missense_Mutation_p.L636F	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA.	789					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						CCAGCTCCAAGAACTAACTGG	0.353000														39			5		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832561	61832561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:61832561C>T	uc001jky.3	-	36	8416	c.8078G>A	c.(8077-8079)gGa>gAa	p.G2693E	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.	2693					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			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						TGAAATACTTCCTTTGGCTTC	0.502000														33			60		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955401	18955401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:18955401C>T	uc001mpg.3	-	0	1149	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	311				EEI -> QET (in Ref. 2; AAL86880).	acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCCAGGATTTCCTCAGGAAGC	0.567000														42			21		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915115	119915115	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:119915115G>A	uc003vjj.1	+	0	1394	c.429G>A	c.(427-429)gaG>gaA	p.E143E		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	143					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GCAGGCGAGAGAACGCCGAGC	0.597000														45			48		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106866632	106866632	+	RNA	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106866632C>A	uc021ser.1	-	432		c.13588G>T								Parts of antibodies, mostly variable regions.																		AGAGGCTGCACAGGAGAGTCT	0.592000														133			25		3.28513e-13	3.31235e-13	1	1	0
CAMKK2	10645	broad.mit.edu	37	12	121691199	121691199	+	Silent	SNP	G	A	A	rs149343557		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:121691199G>A	uc001tzv.3	-	9	1813	c.984C>T	c.(982-984)atC>atT	p.I328I	CAMKK2_uc001tzt.3_Silent_p.I328I|CAMKK2_uc001tzu.3_Silent_p.I328I|CAMKK2_uc001tzw.3_Silent_p.I328I|CAMKK2_uc001tzx.3_Silent_p.I328I|CAMKK2_uc001tzy.3_Silent_p.I328I|CAMKK2_uc001tzz.1_Silent_p.I115I|CAMKK2_uc001uaa.1_Silent_p.I328I|CAMKK2_uc001uab.3_Silent_p.I328I|CAMKK2_uc001uac.3_Silent_p.I328I	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA.	328	Protein kinase.				MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAAGTCAGCGATCTTGATGT	0.567000														483			127		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66036324	66036324	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:66036324C>G	uc001dci.3	+	3	598	c.209C>G	c.(208-210)cCt>cGt	p.P70R	LEPR_uc001dcg.3_Missense_Mutation_p.P70R|LEPR_uc001dch.3_Missense_Mutation_p.P70R|LEPR_uc009waq.3_Missense_Mutation_p.P70R|LEPR_uc021ool.1_Missense_Mutation_p.P70R|LEPR_uc001dcj.3_Missense_Mutation_p.P70R|LEPR_uc001dck.3_Missense_Mutation_p.P70R	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	70					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GCTGTTGAACCTAAGTTTAAT	0.393000														22			12		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42524256	42524256	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:42524256C>T	uc003gwr.2	-	21	2100	c.1868G>A	c.(1867-1869)cGa>cAa	p.R623Q	ATP8A1_uc003gws.2_Missense_Mutation_p.R608Q	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	623					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ATAGACTGCTCGCCACTCCTG	0.433000														7			12		0	0	1	0	0
TREML3P	340206	broad.mit.edu	37	6	41185624	41185624	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:41185624G>A	uc003oqb.3	-	0		c.62C>T								Homo sapiens triggering receptor expressed on myeloid cells-like 3 (TREML3), non-coding RNA.																		CTGACACCAGGATTTGGGCTG	0.517000														44			7		0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156136012	156136012	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:156136012C>T	uc003ioq.3	+	1	1410	c.921C>T	c.(919-921)ttC>ttT	p.F307F	NPY2R_uc003ior.3_Silent_p.F307F|NPY2R_uc021xtm.1_Silent_p.F307F	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	307					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				AACTCATCTTCACAGTGTTCC	0.532000														51			26		0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93708899	93708899	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:93708899G>A	uc001ybo.3	-	10	3445	c.3119C>T	c.(3118-3120)cCt>cTt	p.P1040L	BTBD7_uc010aur.3_Missense_Mutation_p.P565L|BTBD7_uc010two.2_Missense_Mutation_p.P860L|BTBD7_uc001ybp.3_Missense_Mutation_p.P689L	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	1040										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GGCTGCCAAAGGAAAGTCTGA	0.517000														140			44		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65260143	65260143	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:65260143G>A	uc001xht.3	-	12	2289	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	SPTB_uc001xhr.3_Silent_p.F746F|SPTB_uc001xhs.3_Silent_p.F746F|SPTB_uc001xhu.3_Silent_p.F746F	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	746					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTGGAACTGGAAAAAGTTCT	0.607000														17			22		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155287521	155287521	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:155287521G>A	uc003inw.2	-	4	535	c.535C>T	c.(535-537)Cca>Tca	p.P179S	DCHS2_uc003inx.2_Missense_Mutation_p.P773S	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	179	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TAGGTTGATGGGTTAAACACA	0.498000														14			22		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86114794	86114794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:86114794C>T	uc003dql.3	+	8	1109	c.1109C>T	c.(1108-1110)gCt>gTt	p.A370V	CADM2_uc003dqj.3_Missense_Mutation_p.A368V|CADM2_uc003dqk.3_Missense_Mutation_p.A337V|CADM2_uc003dqm.2_Missense_Mutation_p.A260V|CADM2_uc021xay.1_Missense_Mutation_p.A220V|CADM2_uc021xaz.1_Missense_Mutation_p.A220V|CADM2_uc021xba.1_Missense_Mutation_p.A260V	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	368					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CCTGACCATGCTCTCATAGGA	0.393000														37			11		0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38121961	38121961	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:38121961C>T	uc002htl.1	+	1	139	c.21C>T	c.(19-21)gtC>gtT	p.V7V	GSDMA_uc002htm.1_Silent_p.V7V	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	7					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						TTGAAAATGTCACCCGGGCCC	0.587000														9			6		0	0	1	0	0
ZSCAN30	100101467	broad.mit.edu	37	18	32834140	32834140	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:32834140C>T	uc002kyl.3	-	4	1215	c.759G>A	c.(757-759)caG>caA	p.Q253Q	ZNF397_uc002kyj.3_Intron|ZNF397_uc010dmq.3_Intron|ZNF397_uc010dmr.3_Intron|ZSCAN30_uc002kym.3_Silent_p.Q253Q	NM_001166012	NP_001159484	Q86W11	ZSC30_HUMAN	Homo sapiens zinc finger and SCAN domain containing 30 (ZSCAN30), mRNA.	253					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|lung(3)|urinary_tract(1)	9						AATGTCTGTCCTGGGAAGGAA	0.448000														69			33		0	0	1	0	0
C9orf43	257169	broad.mit.edu	37	9	116184837	116184837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:116184837G>A	uc004bhp.3	+	5	901	c.455G>A	c.(454-456)gGg>gAg	p.G152E	C9orf43_uc004bho.4_Missense_Mutation_p.G152E	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	Homo sapiens chromosome 9 open reading frame 43 (C9orf43), mRNA.	152										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						AGCCAGCATGGGAAGAAGAAA	0.353000														8			14		0	0	1	0	0
ZNF645	158506	broad.mit.edu	37	X	22291921	22291921	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:22291921C>T	uc004dai.2	+	0	892	c.813C>T	c.(811-813)tcC>tcT	p.S271S		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	Homo sapiens zinc finger protein 645 (ZNF645), mRNA.	271	Pro-rich.					intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						CGGTATCGTCCCCTCATCATA	0.433000														7			63		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1491747	1491747	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:1491747G>A	uc002qwr.3	+	9	1838	c.1752G>A	c.(1750-1752)cgG>cgA	p.R584R	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Silent_p.R584R|TPO_uc002qwx.3_Intron|TPO_uc002qwu.3_Intron|TPO_uc010yio.2_Silent_p.R411R|TPO_uc010yip.2_Silent_p.R584R|TPO_uc002qwy.1_Intron|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	584					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGAGGGGCCGGGACCACGGGC	0.582000														76			75		0	0	1	0	0
METTL15	196074	broad.mit.edu	37	11	28134888	28134888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:28134888C>T	uc001msh.2	+	2	462	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	METTL15_uc001msg.2_Missense_Mutation_p.R3W|METTL15_uc001mse.2_Missense_Mutation_p.R3W|METTL15_uc001msf.1_Non-coding_Transcript	NM_001113528	NP_001107000	A6NJ78	MET15_HUMAN	Homo sapiens methyltransferase like 15 (METTL15), transcript variant 1, mRNA.	3							methyltransferase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						CAAAATGCTTCGGTATCCATA	0.289000														34			10		0	0	1	0	0
PPY	5539	broad.mit.edu	37	17	42018982	42018982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:42018982G>A	uc002iep.3	-	1	86	c.41C>T	c.(40-42)tCc>tTc	p.S14F		NM_002722	NP_002713	P01298	PAHO_HUMAN	Homo sapiens pancreatic polypeptide (PPY), mRNA.	14					digestion|protein secretion	extracellular region	hormone activity			large_intestine(2)|lung(1)|skin(1)	4		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CACGCAGGTGGACAGGAGCAG	0.652000														35			20		0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45284184	45284184	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45284184A>C	uc002ozs.3	+	1	439	c.376A>C	c.(376-378)Atc>Ctc	p.I126L	CBLC_uc010ejt.3_Missense_Mutation_p.I126L	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	126	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CAAGCTGGCCATCATCTTCAG	0.617000			M		AML									110			114		0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48561233	48561233	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:48561233G>A	uc003ctv.3	-	10	1140	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S	PFKFB4_uc003ctx.3_Missense_Mutation_p.P332S|PFKFB4_uc010hkb.3_Missense_Mutation_p.P368S|PFKFB4_uc003ctw.3_Missense_Mutation_p.P184S|PFKFB4_uc010hkc.3_Missense_Mutation_p.P340S|PFKFB4_uc011bbm.2_Missense_Mutation_p.P364S	NM_004567	NP_004558	Q16877	F264_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA.	375	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ATGATGACAGGCTCCAGTCTC	0.617000														60			16		0	0	1	0	0
SNX2	6643	broad.mit.edu	37	5	122143971	122143971	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:122143971G>A	uc003kte.3	+	7	693	c.644_splice	c.e7-1	p.G215_splice	SNX2_uc011cwn.2_Splice_Site_p.G98_splice	NM_003100	NP_003091	O60749	SNX2_HUMAN	Homo sapiens sorting nexin 2 (SNX2), mRNA.	215	PX.				cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		CTTCTTCAAAGGGATGACCAA	0.333000														5			8		0	0	1	0	0
GLDN	342035	broad.mit.edu	37	15	51676017	51676017	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:51676017G>A	uc002aba.3	+	3	638	c.469G>A	c.(469-471)Gga>Aga	p.G157R	GLDN_uc010bez.1_Silent_p.T139T|GLDN_uc002abb.3_Missense_Mutation_p.G33R	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	Homo sapiens gliomedin (GLDN), mRNA.	157	Collagen-like 1.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		AGGACACAACGGATTGGATGG	0.423000														23			23		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2764357	2764357	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:2764357G>A	uc009zdu.1	+	35	4642	c.4329G>A	c.(4327-4329)cgG>cgA	p.R1443R	CACNA1C_uc001qkc.2_Silent_p.R1395R|CACNA1C_uc001qjz.2_Silent_p.R1395R|CACNA1C_uc001qkd.2_Silent_p.R1395R|CACNA1C_uc001qke.2_Silent_p.R1384R|CACNA1C_uc001qkf.2_Silent_p.R1384R|CACNA1C_uc009zdw.1_Silent_p.R1417R|CACNA1C_uc001qkg.2_Silent_p.R1382R|CACNA1C_uc001qkh.2_Silent_p.R1384R|CACNA1C_uc001qkl.2_Silent_p.R1443R|CACNA1C_uc001qkj.2_Silent_p.R1395R|CACNA1C_uc001qkk.2_Silent_p.R1395R|CACNA1C_uc001qkn.2_Silent_p.R1395R|CACNA1C_uc001qkm.2_Silent_p.R1384R|CACNA1C_uc001qko.2_Silent_p.R1415R|CACNA1C_uc001qkp.2_Silent_p.R1395R|CACNA1C_uc001qkq.2_Silent_p.R1423R|CACNA1C_uc001qku.2_Silent_p.R1395R|CACNA1C_uc001qkr.2_Silent_p.R1412R|CACNA1C_uc001qks.2_Silent_p.R1395R|CACNA1C_uc001qkt.2_Silent_p.R1395R|CACNA1C_uc009zdv.1_Silent_p.R1392R|CACNA1C_uc001qkb.2_Silent_p.R1395R|CACNA1C_uc001qki.1_Silent_p.R1131R|CACNA1C_uc010sea.1_Silent_p.R86R	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1443					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGATCAACCGGAACAACAACT	0.502000														24			5		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546689	11546689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11546689G>A	uc010shk.1	-	2	358	c.323C>T	c.(322-324)tCc>tTc	p.S108F		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGACTTCGGGACTTGTCTCC	0.602000														394			195		0	0	1	0	0
PCDHB18	54660	broad.mit.edu	37	5	140615632	140615632	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140615632C>T	uc003ljc.1	+	0	1695	c.1347C>T	c.(1345-1347)tcC>tcT	p.S449S						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CCCTCACCTCCCTGGTCTCCA	0.657000														132			44		0	0	1	0	0
PLD4	122618	broad.mit.edu	37	14	105394151	105394151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:105394151C>T	uc010tyl.1	+	2	411	c.253C>T	c.(253-255)Cca>Tca	p.P85S	PLD4_uc001ypu.1_Missense_Mutation_p.P78S	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	Homo sapiens phospholipase D family, member 4 (PLD4), mRNA.	78					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	TGGCTCCAGCCCAGCTTGGGA	0.672000														17			11		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921945	24921945	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:24921945C>T	uc001ywo.3	+	0	1405	c.931C>T	c.(931-933)Cct>Tct	p.P311S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	311	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TTTCTGTATTCCTCCAAGGAG	0.577000														53			33		0	0	1	0	0
KLHL20	27252	broad.mit.edu	37	1	173703100	173703100	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:173703100C>T	uc001gjc.3	+	2	451	c.272C>T	c.(271-273)cCc>cTc	p.P91L	KLHL20_uc010pmr.2_Intron|KLHL20_uc009wwf.3_Missense_Mutation_p.P73L|KLHL20_uc001gjd.3_Missense_Mutation_p.P91L	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA.	91	BTB.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	Cul3-RING ubiquitin ligase complex|Golgi apparatus|PML body|actin cytoskeleton|cell surface|perinuclear region of cytoplasm	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GCCTGTAGTCCCTACTTCCGA	0.478000														98			18		0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31024690	31024690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:31024690C>T	uc021wbw.1	+	12	4607	c.4175C>T	c.(4174-4176)cCc>cTc	p.P1392L	ASXL1_uc002wxs.3_Missense_Mutation_p.P1391L|ASXL1_uc010geb.3_Missense_Mutation_p.P1283L	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	1392					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGGCATAGTCCCCTGGAACTG	0.542000			"""F, N, Mis"""		"""MDS, CMML"""									64			55		0	0	1	0	0
RAET1K	646024	broad.mit.edu	37	6	150321202	150321202	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:150321202C>T	uc003qnq.3	-	3		c.1017_splice	c.e3+1							Homo sapiens retinoic acid early transcript 1K pseudogene (RAET1K), non-coding RNA.																		CCCACATTACCTGTCACTCTA	0.567000														4			3		0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46314659	46314659	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:46314659G>A	uc011bzc.1	-	3	577	c.165C>T	c.(163-165)atC>atT	p.I55I	GABRA2_uc003gxc.3_Silent_p.I110I|GABRA2_uc010igc.2_Silent_p.I110I|GABRA2_uc003gxe.3_Silent_p.I110I			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	110					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTAGTCGAAGGATATTCATAG	0.289000														6			33		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10451065	10451065	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10451065C>T	uc010coi.3	-	2	301	c.173G>A	c.(172-174)gGa>gAa	p.G58E	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.G58E|MYH2_uc010coj.3_Missense_Mutation_p.G58E	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	58	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.G58E(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGTCACTTTTCCTCCTTCTCT	0.463000														107			32		0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45316778	45316778	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45316778G>A	uc002ozu.3	+	5	729	c.685G>A	c.(685-687)Gat>Aat	p.D229N	BCAM_uc002ozt.1_Missense_Mutation_p.D229N	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	229	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GCTCCGCAAGGATGACCGAGA	0.706000														133			33		0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179533844	179533844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:179533844G>A	uc001gmq.4	-	1	444	c.359C>T	c.(358-360)tCc>tTc	p.S120F	NPHS2_uc009wxi.3_Missense_Mutation_p.S120F	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA.	120					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						GAACCAGATGGAAAAAGGGAA	0.463000														25			35		0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47423852	47423852	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:47423852C>T	uc002zhu.1	+	34	3114	c.3012C>T	c.(3010-3012)ttC>ttT	p.F1004F	COL6A1_uc002zhv.1_Silent_p.F335F	NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	1004	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GCCACCTGTTCCGTGTCCCCA	0.677000														75			20		0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147155	26147155	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:26147155G>A	uc002dof.3	+	1	1349	c.957G>A	c.(955-957)cgG>cgA	p.R319R		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	319					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)		TCAAAAACCGGACCCTCGGGC	0.552000														118			51		0	0	1	0	0
ZBTB39	9880	broad.mit.edu	37	12	57397399	57397399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:57397399G>A	uc001sml.2	-	1	1456	c.1303C>T	c.(1303-1305)Ccc>Tcc	p.P435S	ZBTB39_uc021qzg.1_Missense_Mutation_p.P435S	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D434N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						CCTGGCAGGGGATCGTTGGGG	0.532000														42			24		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101589973	101589973	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:101589973G>T	uc002bwr.3	+	22	3743	c.3424G>T	c.(3424-3426)Gat>Tat	p.D1142Y	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1142					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCTTGATTGATCAGTGGTT	0.463000														33			32		2.80507e-11	2.82566e-11	1	1	0
CDH6	1004	broad.mit.edu	37	5	31305297	31305297	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:31305297A>G	uc003jhe.2	+	6	1376	c.1016A>G	c.(1015-1017)aAg>aGg	p.K339R	CDH6_uc003jhd.2_Missense_Mutation_p.K339R	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	339	Cadherin 3.				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						GACTTTGAAAAGAAGAAAGTG	0.433000														22			59		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121747145	121747145	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:121747145G>A	uc010flp.3	+	12	3685	c.3655G>A	c.(3655-3657)Gta>Ata	p.V1219I	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Missense_Mutation_p.V891I|GLI2_uc002tmu.4_Missense_Mutation_p.V874I	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1219					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CATCCCCAGGGTAAACTACAT	0.657000														9			4		0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528064	157528064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:157528064C>T	uc003qqp.3	+	18	5750	c.5750C>T	c.(5749-5751)cCt>cTt	p.P1917L	ARID1B_uc003qqo.3_Missense_Mutation_p.P1930L|ARID1B_uc003qqn.3_Missense_Mutation_p.P1970L	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1917					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GACGAGACTCCTCTGTGTACC	0.547000														43			34		0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83781740	83781740	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:83781740T>C	uc010vns.2	+	11	1971	c.1707T>C	c.(1705-1707)ggT>ggC	p.G569G	CDH13_uc002fgx.3_Silent_p.G522G|CDH13_uc010vnt.2_Silent_p.G268G|CDH13_uc010vnu.2_Silent_p.G483G	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	522	Cadherin 4.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ACCCAGCAGGTTGGCTGAATA	0.468000														14			83		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106653563	106653563	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106653563C>T	uc021ser.1	-	1432		c.28680G>A								Parts of antibodies, mostly variable regions.																		GGACCCAGTTCATGTCACTGT	0.587000														159			36		0	0	1	0	0
TAS2R13	50838	broad.mit.edu	37	12	11061021	11061021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11061021G>A	uc001qzg.1	-	0	1141	c.877C>T	c.(877-879)Ctt>Ttt	p.L293F	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron	NM_023920	NP_076409	Q9NYV9	T2R13_HUMAN	Homo sapiens taste receptor, type 2, member 13 (TAS2R13), mRNA.	293					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GCCACCAAAAGAAAGGCCTGT	0.423000														42			9		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122642521	122642521	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:122642521G>A	uc003efz.1	-	9	1519	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y	SEMA5B_uc011bju.1_Silent_p.Y347Y|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.Y405Y|SEMA5B_uc010hro.1_Silent_p.Y347Y|SEMA5B_uc010hrp.1_Non-coding_Transcript	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	405	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.R404C(1)|p.R404H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGTTCTCCTGGTAGCGAAATG	0.557000														78			27		0	0	1	0	0
PKM2	5315	broad.mit.edu	37	15	72502197	72502197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:72502197C>T	uc002aty.2	-	4	666	c.382G>A	c.(382-384)Ggc>Agc	p.G128S	PKM2_uc010bit.1_Missense_Mutation_p.G133S|PKM2_uc010uki.2_Missense_Mutation_p.G202S|PKM2_uc002atx.2_Missense_Mutation_p.G128S|PKM2_uc002atw.2_Missense_Mutation_p.G128S|PKM2_uc010ukj.2_Missense_Mutation_p.G113S|PKM2_uc010ukk.2_Intron|PKM2_uc002atv.2_Missense_Mutation_p.G163S|PKM2_uc010biu.1_Missense_Mutation_p.G149S	NM_002654	NP_002645	P14618	KPYM_HUMAN	Homo sapiens pyruvate kinase, muscle (PKM2), transcript variant 1, mRNA.	128					glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|prostate(1)	13					Pyruvic acid(DB00119)	TCTGCAGTGCCGCTCTAGGGA	0.512000														98			17		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108124234	108124234	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:108124234C>T	uc003dxa.1	-	33	4804	c.4747G>A	c.(4747-4749)Gaa>Aaa	p.E1583K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1583						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.E1583K(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTTTCAAGTTCTGCTTTAGCT	0.318000														18			5		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062601	9062601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9062601G>A	uc002mkp.3	-	2	25049	c.24845C>T	c.(24844-24846)tCc>tTc	p.S8282F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8284	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAATGTAGAGGAAACAGGAGA	0.512000														24			25		0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36172470	36172470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:36172470G>A	uc003olv.4	+	2	1708	c.1484G>A	c.(1483-1485)aGg>aAg	p.R495K	BRPF3_uc010jwb.3_Missense_Mutation_p.R495K|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Missense_Mutation_p.R495K	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	495					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TCCTTTCAGAGGAAAAACCAG	0.517000														113			29		0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220466087	220466087	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:220466087C>T	uc002vml.3	+	2	268	c.225C>T	c.(223-225)tcC>tcT	p.S75S	STK11IP_uc010zlj.2_Silent_p.S64S|STK11IP_uc010zlk.2_Silent_p.S64S|STK11IP_uc010zll.2_Silent_p.S64S|STK11IP_uc002vmm.1_Silent_p.S64S	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	75					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCTGCCCTCCCATCCTGCCG	0.567000														26			8		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18705938	18705938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:18705938C>T	uc003sui.3	+	10	1611	c.1570C>T	c.(1570-1572)Ccc>Tcc	p.P524S	HDAC9_uc003sue.3_Missense_Mutation_p.P521S|HDAC9_uc011jyd.2_Missense_Mutation_p.P521S|HDAC9_uc003suh.3_Missense_Mutation_p.P521S|HDAC9_uc003suj.3_Missense_Mutation_p.P480S|HDAC9_uc011jya.2_Missense_Mutation_p.P519S|HDAC9_uc003sua.1_Missense_Mutation_p.P499S|HDAC9_uc003sud.2_Missense_Mutation_p.P521S|HDAC9_uc011jyc.2_Missense_Mutation_p.P480S|HDAC9_uc011jyb.2_Missense_Mutation_p.P477S|HDAC9_uc003suf.2_Missense_Mutation_p.P552S|HDAC9_uc010kud.2_Missense_Mutation_p.P524S|HDAC9_uc011jye.2_Missense_Mutation_p.P493S|HDAC9_uc011jyf.2_Missense_Mutation_p.P444S|HDAC9_uc010kue.1_Intron	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	521					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor 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|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGACAGAGCGCCCTCTAGTGG	0.547000											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		143			29		0	0	1	0	0
HAND2	9464	broad.mit.edu	37	4	174448327	174448327	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:174448327C>T	uc003itg.1	-	2	741	c.651G>A	c.(649-651)gaG>gaA	p.E217E	HAND2_uc003ith.1_3'UTR			P61296	HAND2_HUMAN	Homo sapiens heart and neural crest derivatives expressed 2 (HAND2), mRNA.	0					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GCAAGGAGTCCTCAGAGCGGA	0.587000														3			7		0	0	1	0	0
ESR1	2099	broad.mit.edu	37	6	152382190	152382190	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:152382190C>T	uc010kio.3	+	6	1524	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	ESR1_uc003qom.4_Missense_Mutation_p.R434W|ESR1_uc010kin.3_Missense_Mutation_p.R434W|ESR1_uc010kip.3_Missense_Mutation_p.R433W|ESR1_uc003qon.4_Missense_Mutation_p.R434W|ESR1_uc010kir.3_Missense_Mutation_p.R173W|ESR1_uc003qoo.4_Missense_Mutation_p.R434W|ESR1_uc010kiq.3_Missense_Mutation_p.R32W|ESR1_uc021zgz.1_Intron|ESR1_uc011eeu.2_Non-coding_Transcript|ESR1_uc011eev.2_Intron|ESR1_uc011eew.2_Intron|ESR1_uc011eet.2_Intron|ESR1_uc010kis.3_Missense_Mutation_p.R149W|ESR1_uc021zha.1_Intron|ESR1_uc011eex.2_Intron|ESR1_uc010kit.1_3'UTR|ESR1_uc011eey.2_Missense_Mutation_p.R171W	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.	434	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	TACATCATCTCGGTTCCGCAT	0.388000														10			13		0	0	1	0	0
KCNE1	3753	broad.mit.edu	37	21	35821771	35821771	+	Silent	SNP	G	A	A	rs17173508		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:35821771G>A	uc021wit.1	-	0	162	c.162C>T	c.(160-162)ttC>ttT	p.F54F	KCNE1_uc010gmp.3_Silent_p.F54F|KCNE1_uc002ytz.3_Silent_p.F54F|KCNE1_uc010gmq.3_Silent_p.F54F|KCNE1_uc010gmr.3_Silent_p.F54F|KCNE1_uc010gms.3_Silent_p.F54F|KCNE1_uc002yua.3_Non-coding_Transcript	NM_001127670	NP_001121142	P15382	KCNE1_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 1 (KCNE1), transcript variant 1, mRNA.	54					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	TGAAGAAGCCGAAGAATCCCA	0.607000														285			202		0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130649062	130649062	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:130649062C>T	uc001uii.3	+	0	2059	c.1575C>T	c.(1573-1575)tcC>tcT	p.S525S	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	525					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TTTGGACCTCCAAGACTCTGC	0.567000														45			11		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41039557	41039557	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:41039557C>T	uc003jmj.4	-	19	2544	c.2054G>A	c.(2053-2055)cGa>cAa	p.R685Q	HEATR7B2_uc003jmi.4_Missense_Mutation_p.R240Q	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	685							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TACCTTACATCGATTCATGAA	0.323000														13			3		0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436726	248436726	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248436726G>A	uc010pzi.2	-	0	391	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGAGAGTGGGATATCGGAGT	0.592000														171			12		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54542603	54542603	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:54542603G>A	uc021smr.1	+	5	3403	c.3403G>A	c.(3403-3405)Gaa>Aaa	p.E1135K	UNC13C_uc021sms.1_Missense_Mutation_p.E1137K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1137					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAAATGCCACGAAAAGTGTCA	0.507000														51			14		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634325	70634325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:70634325C>T	uc001xly.3	-	1	1569	c.815G>A	c.(814-816)gGa>gAa	p.G272E	SLC8A3_uc001xlw.3_Missense_Mutation_p.G272E|SLC8A3_uc001xlx.3_Missense_Mutation_p.G272E|SLC8A3_uc001xlz.3_Missense_Mutation_p.G272E|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	272	Calmodulin-binding (By similarity).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.R271*(1)		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)		TATGATAATTCCTCGGTGTTT	0.468000														51			21		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70515731	70515731	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:70515731C>T	uc001xly.3	-	6	2914	c.2160G>A	c.(2158-2160)ggG>ggA	p.G720G	SLC8A3_uc001xlv.3_Silent_p.G91G|SLC8A3_uc001xlu.3_Silent_p.G77G|SLC8A3_uc001xlw.3_Silent_p.G717G|SLC8A3_uc001xlx.3_Silent_p.G718G|SLC8A3_uc001xlz.3_Silent_p.G714G|SLC8A3_uc010ara.3_Non-coding_Transcript|SLC8A3_uc001xma.2_Silent_p.G77G	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	720					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.G720G(2)|p.G718G(1)		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)		GCCTCTCCTCCCCGGATTCAT	0.527000														29			10		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543111	133543111	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:133543111C>T	uc002ttp.3	-	13	1647	c.1273G>A	c.(1273-1275)Ggt>Agt	p.G425S	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	425							protein binding	p.G425S(2)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCTTTATAACCCCATTTGGTT	0.438000														24			51		0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354767	45354767	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:45354767G>A	uc002xsl.3	+	1	1189	c.1092G>A	c.(1090-1092)agG>agA	p.R364R		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	364						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				AGGACCAAAGGGAGCCAATCT	0.622000														43			27		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11445951	11445951	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:11445951C>T	uc021zzo.1	-	21	4465	c.4213G>A	c.(4213-4215)Gaa>Aaa	p.E1405K	THSD7A_uc021zzn.1_Missense_Mutation_p.E1403K	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1405	TSP type-1 14.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGCAGGATTCCTCCAGAACC	0.423000										HNSCC(18;0.044)				117			78		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156308	155156308	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:155156308C>T	uc003inw.2	-	24	8131	c.8131G>A	c.(8131-8133)Gaa>Aaa	p.E2711K		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2711					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E2711K(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGATCTCCTTCCCCAAATGTT	0.532000														50			29		0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25242563	25242563	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:25242563C>T	uc001rgh.3	+	10	1483	c.389C>T	c.(388-390)cCt>cTt	p.P130L	LRMP_uc010sja.2_Missense_Mutation_p.P130L|LRMP_uc010sjc.2_Missense_Mutation_p.P130L|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Missense_Mutation_p.P77L|LRMP_uc010sjd.2_Missense_Mutation_p.P77L	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	186					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GTGGTTTCCCCTCTTCCTGTA	0.318000														11			11		0	0	1	0	0
ING1	3621	broad.mit.edu	37	13	111368024	111368024	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:111368024C>T	uc001vri.3	+	0	666	c.234C>T	c.(232-234)tcC>tcT	p.S78S	CARS2_uc010tjm.1_5'Flank|DJ031140_uc001vre.3_5'Flank|ING1_uc001vrf.3_Intron|ING1_uc001vrg.3_Intron|ING1_uc001vrh.3_Intron	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	Homo sapiens inhibitor of growth family, member 1 (ING1), transcript variant 4, mRNA.	78					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	p.A77S(1)		endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CGTGCTCTTCCGCCCTGCGGT	0.677000														12			9		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201063033	201063033	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:201063033C>T	uc001gvv.3	-	2	602	c.375G>A	c.(373-375)ctG>ctA	p.L125L		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	125					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGGTGAAGTCCAGCACATTCC	0.557000														46			38		0	0	1	0	0
CWF19L2	143884	broad.mit.edu	37	11	107207325	107207325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:107207325G>A	uc010rvp.2	-	14	2347	c.2317C>T	c.(2317-2319)Ctt>Ttt	p.L773F	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	773							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TCCTTGGGAAGAGGAATACAT	0.323000														19			8		0	0	1	0	0
SH3GL3	6457	broad.mit.edu	37	15	84233937	84233937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:84233937G>A	uc002bjw.3	+	2	361	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	SH3GL3_uc010bms.2_Missense_Mutation_p.E56K|SH3GL3_uc010uot.1_Missense_Mutation_p.E56K|SH3GL3_uc002bjx.3_5'UTR|SH3GL3_uc002bju.3_Missense_Mutation_p.E64K|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	56	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						AAAAACCACTGAATATCTTCA	0.289000														29			11		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215884085	215884085	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:215884085G>T	uc002vew.3	-	12	1852	c.1632C>A	c.(1630-1632)aaC>aaA	p.N544K	ABCA12_uc002vev.3_Missense_Mutation_p.N226K|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	544					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CATCTGCACTGTTATTGACAT	0.388000														18			22		2.32416e-17	2.34696e-17	1	1	0
MICALCL	84953	broad.mit.edu	37	11	12315464	12315464	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:12315464G>A	uc001mkg.1	+	2	777	c.486G>A	c.(484-486)agG>agA	p.R162R		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	162					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CTGGAGCCAGGAAGGAAGAAG	0.552000														37			25		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20698150	20698150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:20698150G>A	uc010kuh.3	+	13	1795	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	ABCB5_uc003suw.4_Missense_Mutation_p.E75K|ABCB5_uc003suv.4_Missense_Mutation_p.E75K|ABCB5_uc011jyi.1_Missense_Mutation_p.E75K	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	75	ABC transmembrane type-1.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATTGGTAGGGGAAAAAGGAGC	0.418000														13			49		0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112192	248112192	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248112192C>T	uc001idt.1	+	0	33	c.33C>T	c.(31-33)ttC>ttT	p.F11F	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CAACTGATTTCATCTTATTGG	0.378000														45			74		0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984098	85984098	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:85984098C>T	uc010qmc.2	-	1	891	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	LRIT2_uc001kcy.3_Missense_Mutation_p.E295K	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	295	Ig-like.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CCATCAAATTCTCTCCACATA	0.517000														19			9		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177199208	177199208	+	Missense_Mutation	SNP	C	T	T	rs112761040		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:177199208C>T	uc001glf.3	+	1	508	c.196C>T	c.(196-198)Cac>Tac	p.H66Y		NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	66						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						GGGCCCCTTCCACCGCGCTCA	0.637000														64			52		0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95847747	95847747	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:95847747C>T	uc002suf.3	+	4	1636	c.1174C>T	c.(1174-1176)Cac>Tac	p.H392Y	ZNF2_uc002sug.3_Missense_Mutation_p.H350Y|ZNF2_uc010yue.2_Missense_Mutation_p.H354Y|ZNF2_uc010fhs.3_Missense_Mutation_p.H312Y	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	Homo sapiens zinc finger protein 2 (ZNF2), transcript variant 1, mRNA.	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		TCAGCGTGTCCACACGGGAGA	0.507000														60			19		0	0	1	0	0
FOXN2	3344	broad.mit.edu	37	2	48602520	48602520	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:48602520A>G	uc002rwh.1	+	6	1549	c.1234A>G	c.(1234-1236)Aca>Gca	p.T412A		NM_002158	NP_002149	P32314	FOXN2_HUMAN	Homo sapiens forkhead box N2 (FOXN2), mRNA.	412					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TGGAATTCGTACATGTTTAGG	0.398000														40			7		0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149864535	149864535	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:149864535C>T	uc010zbu.2	+	22	2899	c.2504C>T	c.(2503-2505)tCc>tTc	p.S835F	KIF5C_uc002tws.1_Non-coding_Transcript|KIF5C_uc002twu.1_Missense_Mutation_p.S117F	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	835					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CAGAAAATTTCCTTCTTGGAG	0.542000														43			9		0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672872	141672872	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141672872G>A	uc003vwx.1	-	0	702	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	206					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GAAACAATAGGAAAGGAGGCA	0.438000														34			14		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19566125	19566125	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:19566125C>T	uc002wrl.3	+	5	746	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	183						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTGGCACCATCGTGGGCTCAG	0.542000														123			78		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113694737	113694737	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:113694737C>T	uc003ynu.3	-	15	2770	c.2611G>A	c.(2611-2613)Gaa>Aaa	p.E871K	CSMD3_uc003yns.3_Missense_Mutation_p.E143K|CSMD3_uc003ynt.3_Missense_Mutation_p.E831K|CSMD3_uc011lhx.2_Missense_Mutation_p.E767K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	871	Sushi 4.					integral to membrane|plasma membrane		p.E871K(2)|p.E831K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTAATTGTTTCTGTTCCCTGG	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				65			24		0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141463992	141463992	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141463992C>T	uc003vwp.1	+	0	96	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L		NM_016943	NP_058639	Q9NYW6	TA2R3_HUMAN	Homo sapiens taste receptor, type 2, member 3 (TAS2R3), mRNA.	12					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					GTTCCTGATTCTGTCTGGCAC	0.453000														123			39		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2953033	2953033	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:2953033G>A	uc003smv.3	-	21	3241	c.2907C>T	c.(2905-2907)ttC>ttT	p.F969F		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	969					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCTCGCAGTAGAAGGCGCGTA	0.662000			Mis		DLBCL									93			14		0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4470843	4470843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:4470843C>T	uc001lyz.2	+	0	319	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R92W(6)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTCAGGGATCGGGAGATAAA	0.527000														60			19		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77457117	77457117	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:77457117T>A	uc004ajl.1	-	3	533	c.295A>T	c.(295-297)Aat>Tat	p.N99Y	TRPM6_uc004ajk.1_Missense_Mutation_p.N94Y|TRPM6_uc022bib.1_Missense_Mutation_p.N94Y|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.N99Y|TRPM6_uc010mpd.1_Missense_Mutation_p.N99Y|TRPM6_uc010mpe.1_Missense_Mutation_p.N99Y|TRPM6_uc004ajn.1_Missense_Mutation_p.N99Y	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	99					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCTTGGAAATTAATCGTGCCA	0.403000														9			45		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86252056	86252057	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:86252056_86252057GG>AA	uc001dlj.3	-	47	4114_4115	c.4039_4040CC>TT	c.(4039-4041)cca>TTa	p.P1347L	COL24A1_uc001dli.3_Missense_Mutation_p.P483L|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.P647L|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1347	Collagen-like 15.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTGAATTCCTGGGCTTCCTGGC	0.500000														6			68		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37422872	37422872	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:37422872G>A	uc021ppc.1	+	4	577	c.478G>A	c.(478-480)Gga>Aga	p.G160R	ANKRD30A_uc001iza.1_Missense_Mutation_p.G160R	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	216						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGTATGTCATGGATCATCAGA	0.378000														135			32		0	0	1	0	0
ONECUT2	9480	broad.mit.edu	37	18	55104010	55104010	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:55104010G>A	uc002lgo.3	+	0	1094	c.1062G>A	c.(1060-1062)gcG>gcA	p.A354A		NM_004852	NP_004843	O95948	ONEC2_HUMAN	Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.	354					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		TCCCCCAGGCGATCTTTGCGC	0.602000														19			13		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934896	28934896	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:28934896C>T	uc002kwp.3	+	14	2949	c.2737C>T	c.(2737-2739)Cat>Tat	p.H913Y	DSG1_uc010xbp.2_Missense_Mutation_p.H272Y	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	913					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)			GACTATCCATCATCCTAGAGA	0.458000														50			71		0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664574	169664574	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:169664574G>A	uc011bpp.2	-	1		c.3229C>T								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		CCTCACTTTGGATGTGTGACA	0.527000														3			17		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45786747	45786747	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:45786747G>A	uc010gpt.1	+	3	634	c.534G>A	c.(532-534)aaG>aaA	p.K178K	TRPM2_uc002zet.1_Silent_p.K178K|TRPM2_uc002zeu.1_Silent_p.K178K|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.K178K|TRPM2_uc002zex.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	178						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGGGGGCCAAGAACTTCAACA	0.617000														41			17		0	0	1	0	0
PDIA4	9601	broad.mit.edu	37	7	148702420	148702420	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:148702420G>A	uc003wff.2	-	8	1617	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F		NM_004911	NP_004902	P13667	PDIA4_HUMAN	Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.	445					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TGTACTCAGGGAAGTCCTTGG	0.587000											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		60			23		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	382482	382482	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:382482C>T	uc003bot.3	+	5	1033	c.391C>T	c.(391-393)Cca>Tca	p.P131S	CHL1_uc003bou.3_Missense_Mutation_p.P131S|CHL1_uc003bow.2_Missense_Mutation_p.P131S|CHL1_uc011asi.2_Missense_Mutation_p.P131S	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	131	Ig-like C2-type 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ACCAGGTGTTCCAAAATTCCC	0.338000														26			4		0	0	1	0	0
AGTR1	185	broad.mit.edu	37	3	148459760	148459760	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:148459760T>G	uc003ewg.3	+	3	1384	c.938T>G	c.(937-939)tTt>tGt	p.F313C	AGTR1_uc003ewh.3_Missense_Mutation_p.F313C|AGTR1_uc003ewi.3_Missense_Mutation_p.F313C|AGTR1_uc003ewj.3_Missense_Mutation_p.F313C|AGTR1_uc003ewk.3_Missense_Mutation_p.F313C|AGTR1_uc021xfj.1_Missense_Mutation_p.F313C	NM_031850	NP_114438	P30556	AGTR1_HUMAN	Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA.	313				RYF -> KDI (in Ref. 6; BAA02968).	Rho protein signal transduction|calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of NAD(P)H oxidase activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	AAAAGATATTTTCTCCAGCTT	0.388000														17			10		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169780291	169780292	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:169780291_169780292GG>AA	uc002ueo.1	-	27	3932_3933	c.3806_3807CC>TT	c.(3805-3807)acc>aTT	p.T1269I	ABCB11_uc010zda.1_Missense_Mutation_p.T687I|ABCB11_uc010zdb.1_Missense_Mutation_p.T745I	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1269	ABC transporter 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TGACAATGCAGGTCCGACCCTC	0.525000														16			26		0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473650	53473650	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53473650G>A	uc002qan.4	-	3		c.851C>T								Homo sapiens zinc finger protein 702, pseudogene (ZNF702P), non-coding RNA.																		CTTCCTGGAGGAAATTATTCC	0.348000														29			11		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2807782	2807782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:2807782C>T	uc022aqr.1	-	66	10675	c.10285G>A	c.(10285-10287)Gaa>Aaa	p.E3429K	CSMD1_uc011kwj.2_Missense_Mutation_p.E2744K|CSMD1_uc010lrg.3_Missense_Mutation_p.E1321K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3430						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTGTCATTTTCGAACTTGCTT	0.423000														128			27		0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118598041	118598041	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:118598041T>C	uc001twx.3	-	18	2557	c.2262A>G	c.(2260-2262)ttA>ttG	p.L754L	TAOK3_uc001twv.3_Silent_p.L294L|TAOK3_uc001tww.3_Silent_p.L584L|TAOK3_uc001twy.4_Silent_p.L754L	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	Homo sapiens TAO kinase 3 (TAOK3), mRNA.	754					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)					TCAGTGTCTTTAAGATTGTTT	0.393000														106			27		0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205210689	205210689	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:205210689C>T	uc021pia.1	+	1	919	c.264C>T	c.(262-264)ttC>ttT	p.F88F	TMCC2_uc010prf.2_Silent_p.F10F	NM_014858	NP_001229854	O75069	TMCC2_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 2 (TMCC2), transcript variant 1, mRNA.	88						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGCACCTGTTCCACAGCCGCC	0.572000														40			6		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12649246	12649246	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:12649246G>A	uc002gno.2	+	8	1281	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	MYOCD_uc002gnn.2_Missense_Mutation_p.E328K|MYOCD_uc002gnp.1_Missense_Mutation_p.E232K|MYOCD_uc002gnq.2_Missense_Mutation_p.E47K	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	328					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGAACCAAATGAACAGATGGT	0.408000														69			41		0	0	1	0	0
HOXA11	3207	broad.mit.edu	37	7	27222489	27222489	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:27222489G>A	uc003syx.3	-	1	940	c.868C>T	c.(868-870)Cag>Tag	p.Q290*	HOXA9_uc022aar.1_5'Flank|HOXA10_uc003syw.4_5'Flank|HOXA11_uc003syy.3_Non-coding_Transcript|HOXA11-AS_uc003syz.1_5'Flank	NM_005523	NP_005514	P31270	HXA11_HUMAN	Homo sapiens homeobox A11 (HOXA11), mRNA.	290					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q290*(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						CTCCTGTTCTGAAACCAGATT	0.463000			T	NUP98	CML									49			96		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111431408	111431408	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:111431408G>A	uc003iab.4	+	5	1544	c.1202G>A	c.(1201-1203)gGa>gAa	p.G401E		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	401					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CAGTGGTTTGGAAATATTGTG	0.378000														46			11		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5860070	5860070	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:5860070G>A	uc001qnm.2	-	10	1182	c.1110C>T	c.(1108-1110)atC>atT	p.I370I		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	375						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CAGAAGATGGGATGAGGAATG	0.338000														29			6		0	0	1	0	0
GC	2638	broad.mit.edu	37	4	72622457	72622457	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:72622457C>T	uc010iif.3	-	8	1158	c.1063G>A	c.(1063-1065)Gat>Aat	p.D355N	GC_uc003hge.3_Missense_Mutation_p.D336N|GC_uc021xpb.1_Missense_Mutation_p.D336N	NM_001204307	NP_001191236	P02774	VTDB_HUMAN	Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA.	336	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TTTCCTGGATCACACACATCT	0.453000														29			12		0	0	1	0	0
HLA-DPB2	3116	broad.mit.edu	37	6	33095813	33095813	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:33095813G>A	uc003ocw.1	+	2		c.583G>A								Homo sapiens major histocompatibility complex, class II, DP beta 2 (pseudogene) (HLA-DPB2), non-coding RNA.																		CCCCAGCAGGGAAACATCTAC	0.577000														11			31		0	0	1	0	0
DYNLRB2	83657	broad.mit.edu	37	16	80583473	80583473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:80583473C>T	uc002ffo.3	+	2	292	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C	DYNLRB2_uc002ffp.3_Non-coding_Transcript|DYNLRB2_uc002ffq.3_Non-coding_Transcript	NM_130897	NP_570967	Q8TF09	DLRB2_HUMAN	Homo sapiens dynein, light chain, roadblock-type 2 (DYNLRB2), mRNA.	58					microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity			large_intestine(1)|lung(4)|prostate(1)	6						AAGCACAGTTCGTGATATTGA	0.403000														10			7		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729541	196729541	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:196729541C>T	uc002utj.4	-	40	6939	c.6838G>A	c.(6838-6840)Gat>Aat	p.D2280N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2280					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						TAGTTGGTATCCTCCCTCTTG	0.383000														73			25		0	0	1	0	0
ZNF652	22834	broad.mit.edu	37	17	47375953	47375953	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:47375953G>A	uc002iov.4	-	5	2107	c.1643C>T	c.(1642-1644)tCa>tTa	p.S548L	ZNF652_uc002iow.3_Missense_Mutation_p.S548L|ZNF652_uc002iou.4_Non-coding_Transcript	NM_001145365	NP_055712	Q9Y2D9	ZN652_HUMAN	Homo sapiens zinc finger protein 652 (ZNF652), transcript variant 1, mRNA.	548	Mediates interaction with CBFA2T3.|Pro-rich.				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)			gtgcaggtgtgagaaggggtg	0.587000														25			21		0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1254580	1254580	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:1254580G>A	uc003jcb.1	-	14	3256	c.3198C>T	c.(3196-3198)ccC>ccT	p.P1066P	TERT_uc003jbz.1_Silent_p.P262P|TERT_uc003jcc.1_Silent_p.P1003P|TERT_uc003jca.1_Silent_p.P1054P|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	1066	CTE.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGGCCTCGGAGGGCAGAGGGC	0.667000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					16			33		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86590675	86590675	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:86590675C>T	uc001dlj.3	-	2	1419	c.1344G>A	c.(1342-1344)agG>agA	p.R448R	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Silent_p.R448R	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	448					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CACCTTCTTTCCTTAGATCAA	0.343000														13			13		0	0	1	0	0
FDCSP	260436	broad.mit.edu	37	4	71099752	71099752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:71099752G>A	uc003hfd.3	+	3	218	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K		NM_152997	NP_694542	Q8NFU4	FDSCP_HUMAN	Homo sapiens follicular dendritic cell secreted protein (FDCSP), mRNA.	36						extracellular region											TGACAGCGATGAATTAGCTTC	0.363000														154			34		0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101910587	101910587	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:101910587C>T	uc010nod.3	+	2	2388	c.1746C>T	c.(1744-1746)tcC>tcT	p.S582S	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Silent_p.S582S|GPRASP1_uc004ejj.4_Silent_p.S582S|GPRASP1_uc004eji.4_Silent_p.S582S|GPRASP1_uc022cbd.1_Silent_p.S582S	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	582	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TATTCGGGTCCTGGTTTTGGG	0.507000														43			47		0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238586	48238586	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:48238586C>T	uc010rhs.2	+	0	225	c.225C>T	c.(223-225)atC>atT	p.I75I		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTCCACTATCGCCCCTAAAT	0.453000														131			33		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85406053	85406053	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:85406053C>T	uc002ble.3	+	9	5090	c.4923C>T	c.(4921-4923)ggC>ggT	p.G1641G	ALPK3_uc010upc.2_5'Flank	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1641	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.S1640L(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCGAGTCGGGCCGCACGTGCA	0.587000														19			29		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90501747	90501747	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:90501747C>T	uc004app.4	+	3	2380	c.2345C>T	c.(2344-2346)cCc>cTc	p.P782L	FAM75E1_uc004apo.1_Missense_Mutation_p.P594L	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	782						integral to membrane											GGCTGGATCCCCATGCCTGTG	0.567000														3			25		0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12460848	12460848	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:12460848T>C	uc002mtr.1	-	5	2162	c.1551A>G	c.(1549-1551)gaA>gaG	p.E517E	ZNF442_uc010xmk.1_Silent_p.E448E	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	Homo sapiens zinc finger protein 442 (ZNF442), mRNA.	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						ATGTTTTACATTCATAAGGTT	0.383000														40			43		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39604032	39604032	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:39604032G>A	uc003xnj.3	-	18	2208	c.2133C>T	c.(2131-2133)ttC>ttT	p.F711F	ADAM2_uc003xnk.3_Silent_p.F692F|ADAM2_uc011lck.2_Silent_p.F648F|ADAM2_uc003xnl.3_Silent_p.F555F	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	711					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTTTCCTTTGGAAATTAACTT	0.279000														26			35		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282093	152282093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152282093C>T	uc001ezu.1	-	2	5305	c.5269G>A	c.(5269-5271)Gaa>Aaa	p.E1757K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1757	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGACCTTTCCCCTGACTGG	0.597000									Ichthyosis					226			139		0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64422956	64422956	+	Silent	SNP	C	T	T	rs141522162		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:64422956C>T	uc003pep.1	+	14	5497	c.5472C>T	c.(5470-5472)ccC>ccT	p.P1824P	PHF3_uc003pen.2_Silent_p.P1736P|PHF3_uc011dxs.1_Silent_p.P1093P	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1824	Pro-rich.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	p.F1823F(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CTAATTTTCCCCCACAAAGCA	0.512000														44			69		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484094	43484094	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:43484094C>T	uc003tid.1	+	10	1928	c.1323C>T	c.(1321-1323)ctC>ctT	p.L441L	HECW1_uc011kbi.1_Silent_p.L441L	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	441					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTGGGGAGCTCCTGGCCCAGG	0.617000														12			34		0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35064744	35064744	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:35064744A>G	uc002xff.3	+	3	1667	c.1232A>G	c.(1231-1233)aAc>aGc	p.N411S	DLGAP4_uc010zvp.2_Missense_Mutation_p.N411S	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	411					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GAGCAGAGCAACCCCCGCAGG	0.687000														19			4		0	0	1	0	0
CRISP3	10321	broad.mit.edu	37	6	49701545	49701545	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:49701545C>T	uc021zai.1	-	4	451	c.363G>A	c.(361-363)gaG>gaA	p.E121E	CRISP3_uc003ozs.3_Silent_p.E111E	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	98					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TGTAGAGATTCTCACCACATT	0.428000														59			84		0	0	1	0	0
RBBP4	5928	broad.mit.edu	37	1	33135134	33135134	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:33135134C>T	uc001bvr.3	+	7	1095	c.936C>T	c.(934-936)tcC>tcT	p.S312S	RBBP4_uc001bvs.3_Silent_p.S311S|RBBP4_uc010ohj.2_Silent_p.S60S|RBBP4_uc010ohk.2_Silent_p.S277S	NM_005610	NP_001128728	Q09028	RBBP4_HUMAN	Homo sapiens retinoblastoma binding protein 4 (RBBP4), transcript variant 1, mRNA.	312					CenH3-containing nucleosome assembly at centromere|DNA replication|cell cycle|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NURF complex|NuRD complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AGTTGCATTCCTTTGAGTCAC	0.353000														2			24		0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219296840	219296840	+	Silent	SNP	C	T	T	rs145595044	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:219296840C>T	uc002vib.3	+	10	1297	c.1275C>T	c.(1273-1275)gaC>gaT	p.D425D	VIL1_uc010zke.2_Silent_p.D114D|VIL1_uc002via.3_Silent_p.D425D	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	425	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.D425Y(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGGGGGCGACTGCTACCTGC	0.592000														14			23		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94841751	94841751	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:94841751G>A	uc002btj.3	+	0	322	c.257G>A	c.(256-258)gGg>gAg	p.G86E	MCTP2_uc010urg.1_Missense_Mutation_p.G86E|MCTP2_uc002bti.2_Missense_Mutation_p.G86E|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Missense_Mutation_p.G86E|MCTP2_uc002btg.4_Missense_Mutation_p.G86E|MCTP2_uc002bth.4_Missense_Mutation_p.G86E	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	86					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCCACTGCAGGGATCTTTCCC	0.577000														84			22		0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23444964	23444964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:23444964C>T	uc002dlo.3	-	5	909	c.712G>A	c.(712-714)Gag>Aag	p.E238K		NM_153603	NP_705831	P83436	COG7_HUMAN	Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA.	238					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TGACACAGCTCTTGCCAGGCT	0.532000														26			12		0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177100687	177100687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:177100687C>T	uc003iuj.3	+	30	4229	c.3926C>T	c.(3925-3927)cCa>cTa	p.P1309L	WDR17_uc003ium.4_Missense_Mutation_p.P1270L|WDR17_uc003iul.2_Intron|WDR17_uc003iun.3_Missense_Mutation_p.P520L	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	1309										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)		AAGGTGAATCCATTCTCACCT	0.398000														42			47		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28273157	28273157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:28273157C>T	uc009xky.3	-	4	736	c.638G>A	c.(637-639)gGa>gAa	p.G213E	ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Missense_Mutation_p.G213E|ARMC4_uc010qdu.1_5'Flank	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	213							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GTTTCCTTTTCCTGAGAAACG	0.308000														77			62		0	0	1	0	0
MPST	4357	broad.mit.edu	37	22	37420837	37420837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:37420837C>T	uc011amu.2	+	1	817	c.641C>T	c.(640-642)cCc>cTc	p.P214L	MPST_uc003aqi.1_Missense_Mutation_p.P194L|MPST_uc003aqm.3_Missense_Mutation_p.P194L|MPST_uc003aql.3_Missense_Mutation_p.P194L|MPST_uc003aqj.3_Missense_Mutation_p.P194L	NM_021126	NP_001123989	P25325	THTM_HUMAN	Homo sapiens mercaptopyruvate sulfurtransferase (MPST), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	194	Rhodanese 2.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						GGCACCGAGCCCGAGCCCCGA	0.647000														8			12		0	0	1	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22960647	22960647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:22960647C>T	uc003xcy.3	+	0	321	c.13C>T	c.(13-15)Ccc>Tcc	p.P5S	TNFRSF10C_uc003xcx.3_Non-coding_Transcript|TNFRSF10C_uc011kzr.2_Non-coding_Transcript	NM_003841	NP_003832	O14798	TR10C_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain (TNFRSF10C), mRNA.	5					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		GGCCCGGATCCCCAAGACCCT	0.701000														33			4		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170802934	170802934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:170802934C>T	uc003fhh.2	-	24	3316	c.2971G>A	c.(2971-2973)Gaa>Aaa	p.E991K	TNIK_uc003fhi.2_Missense_Mutation_p.E936K|TNIK_uc003fhj.2_Missense_Mutation_p.E962K|TNIK_uc003fhk.2_Missense_Mutation_p.E983K|TNIK_uc003fhl.2_Missense_Mutation_p.E907K|TNIK_uc003fhm.2_Missense_Mutation_p.E928K|TNIK_uc003fhn.2_Missense_Mutation_p.E954K|TNIK_uc003fho.2_Missense_Mutation_p.E899K|TNIK_uc003fhg.2_Missense_Mutation_p.E169K|TNIK_uc003fhp.3_5'Flank	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	991	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCATCCTCTTCATCTTCATCA	0.473000														16			3		0	0	1	0	0
NPTX1	4884	broad.mit.edu	37	17	78445558	78445558	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:78445558C>T	uc002jyp.1	-	3	1209	c.1051G>A	c.(1051-1053)Ggc>Agc	p.G351S		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	Homo sapiens neuronal pentraxin I (NPTX1), mRNA.	351	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			ACCAGCACGCCCTGGGGCTTG	0.657000														34			14		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33141829	33141829	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:33141829G>A	uc003ocx.1	-	32	2716	c.2488C>T	c.(2488-2490)Ctg>Ttg	p.L830L	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.L744L|COL11A2_uc003ocz.1_Silent_p.L723L	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	830	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TTCCCCGACAGGCCCTGGTGG	0.627000														72			17		0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921673	247921673	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:247921673G>A	uc010pza.2	-	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CCAGAAGGACGAATTCCCTGA	0.408000														15			18		0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159784050	159784050	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:159784050C>T	uc001fud.4	+	7	1157	c.1115C>T	c.(1114-1116)tCt>tTt	p.S372F	FCRL6_uc001fuc.2_Missense_Mutation_p.S379F|FCRL6_uc009wsz.1_Missense_Mutation_p.S277F|FCRL6_uc009wta.3_Missense_Mutation_p.S372F	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	372						integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GTTGTCTACTCTGTGGTGCAT	0.448000														23			64		0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55050430	55050430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:55050430G>A	uc001cxm.2	+	1	312	c.136G>A	c.(136-138)Gag>Aag	p.E46K	ACOT11_uc001cxj.2_5'UTR|ACOT11_uc001cxk.3_Missense_Mutation_p.E12K|ACOT11_uc001cxl.2_Missense_Mutation_p.E46K	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	46	Acyl coenzyme A hydrolase 1.				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						GAACCCCACGGAGGTGCAGAT	0.627000														5			21		0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131277427	131277427	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:131277427C>T	uc003qch.2	-	1	381	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	EPB41L2_uc010kfl.2_Missense_Mutation_p.E67K|EPB41L2_uc003qcg.1_Missense_Mutation_p.E67K|EPB41L2_uc003qci.3_Missense_Mutation_p.E67K|EPB41L2_uc011eby.2_Missense_Mutation_p.E67K|EPB41L2_uc010kfk.2_Missense_Mutation_p.E67K	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	67					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCCGATGTTTCCTTCTCTCTC	0.483000														32			27		0	0	1	0	0
GPR114	221188	broad.mit.edu	37	16	57608917	57608917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:57608917G>A	uc002ely.3	+	10	1922	c.1399G>A	c.(1399-1401)Gga>Aga	p.G467R	GPR114_uc002elx.4_Missense_Mutation_p.G467R|GPR114_uc010vhr.2_Nonsense_Mutation_p.W427*	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA.	467					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CGTGCTGCTGGGAACCACCTG	0.627000														10			8		0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210560569	210560569	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:210560569C>T	uc002vde.1	+	6	3923	c.3675C>T	c.(3673-3675)atC>atT	p.I1225I	MAP2_uc002vdc.1_Silent_p.I1225I|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.I1221I	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1225					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.I1225I(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ATGAAACGATCGTATCTGAAC	0.453000														33			4		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256759	240256759	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:240256759C>T	uc010pye.2	+	0	1575	c.1350C>T	c.(1348-1350)tcC>tcT	p.S450S	FMN2_uc010pyd.2_Silent_p.S450S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	450					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGAACCCTCCCTGAGCCGAG	0.697000														132			16		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113562829	113562829	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:113562829G>A	uc022blv.1	+	14	2305	c.2171G>A	c.(2170-2172)cGa>cAa	p.R724Q	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.R635Q|MUSK_uc022blu.1_Missense_Mutation_p.R625Q	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	724	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TTTGTTCACCGAGATTTAGCC	0.552000														66			47		0	0	1	0	0
DCTN4	51164	broad.mit.edu	37	5	150112988	150112988	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:150112988A>G	uc010jhi.3	-	4	581	c.479T>C	c.(478-480)gTt>gCt	p.V160A	DCTN4_uc003lsu.3_Missense_Mutation_p.V103A|DCTN4_uc003lsv.3_Missense_Mutation_p.V160A|DCTN4_uc010jhj.2_Non-coding_Transcript|DCTN4_uc011dck.1_Missense_Mutation_p.V103A	NM_001135643	NP_001129115	Q9UJW0	DCTN4_HUMAN	Homo sapiens dynactin 4 (p62) (DCTN4), transcript variant 1, mRNA.	160						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCTCGCTCAACCTTCTCTTT	0.388000														26			22		0	0	1	0	0
PSME2	5721	broad.mit.edu	37	14	24613650	24613650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:24613650G>A	uc001wmj.3	-	6	453	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S	FAM158A_uc001wmi.3_5'Flank|RNF31_uc001wml.1_5'Flank	NM_002818	NP_002809	Q9UL46	PSME2_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 2 (PA28 beta) (PSME2), mRNA.	130					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome activator complex				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		TCAATCTTGGGGATCAGGTGT	0.418000														36			21		0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54214537	54214537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:54214537C>T	uc003pcj.2	+	6	1069	c.923C>T	c.(922-924)cCa>cTa	p.P308L	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	308					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCATGCTACCCACTTTTCAAA	0.428000														142			30		0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113764178	113764178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:113764178C>T	uc010yxr.2	+	2	128	c.128C>T	c.(127-129)aCt>aTt	p.T43I		NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN	Homo sapiens interleukin 36, alpha (IL36A), mRNA.	43					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						TTCCCAGTCACTATTGCCTTA	0.498000														151			70		0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130067816	130067816	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:130067816G>A	uc001qfw.3	+	11	1628	c.1435G>A	c.(1435-1437)Gac>Aac	p.D479N		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	479	LDL-receptor class A 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CGACTGCACCGACCACAGCGA	0.697000														1			6		0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602771	5602771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5602771C>T	uc010qzi.2	+	0	665	c.665C>T	c.(664-666)gCt>gTt	p.A222V	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGGCAGCTGCTCTTCTCTCC	0.483000														135			36		0	0	1	0	0
DPM1	8813	broad.mit.edu	37	20	49575052	49575052	+	Silent	SNP	G	A	A	rs150509150	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:49575052G>A	uc002xvw.1	-	0	9	c.9C>T	c.(7-9)tcC>tcT	p.S3S	DPM1_uc002xvx.1_Non-coding_Transcript|MOCS3_uc002xvy.1_5'Flank	NM_003859	NP_003850	O60762	DPM1_HUMAN	Homo sapiens dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit (DPM1), mRNA.	3					C-terminal protein lipidation|GPI anchor biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						TGACTTCCAAGGAGGCCATGG	0.572000														86			10		0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124045676	124045676	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:124045676C>T	uc001lgc.1	+	4	549	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	BTBD16_uc001lgd.1_Nonsense_Mutation_p.Q99*	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	100										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCAGCTTTTTCAGTCTGAGAC	0.557000														91			34		0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98774985	98774985	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:98774985C>T	uc010msa.2	+	3	1972	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L	ERCC6L2_uc011lun.1_Intron			Q5T890	RAD26_HUMAN	RecName: Full=Uncharacterized protein C9orf102;	0					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										ATCCCGTTCTCTGAACAGTGA	0.428000														12			11		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234602022	234602022	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:234602022C>T	uc002vuv.4	+	0	511	c.372C>T	c.(370-372)atC>atT	p.I124I	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Silent_p.I124I	NM_001072	NP_001063	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA.	125					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGTACTTCATCAACTGCCAGA	0.468000														27			9		0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67322425	67322425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:67322425C>T	uc010cef.3	+	20	3787	c.3488C>T	c.(3487-3489)cCa>cTa	p.P1163L	PLEKHG4_uc002eso.4_Missense_Mutation_p.P1163L|PLEKHG4_uc002esp.4_Missense_Mutation_p.P970L|PLEKHG4_uc002esq.4_Missense_Mutation_p.P1163L|PLEKHG4_uc002ess.4_Missense_Mutation_p.P1163L|PLEKHG4_uc010ceg.3_Missense_Mutation_p.P1082L	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.	1163					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TCCCAATGCCCATCAGCCAGT	0.627000														46			22		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640473	179640473	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179640473G>A	uc021vsy.1	-	27	6343	c.6118C>T	c.(6118-6120)Cac>Tac	p.H2040Y	TTN_uc021vsz.1_Missense_Mutation_p.H1994Y|TTN_uc021vta.1_Missense_Mutation_p.H1994Y|TTN_uc021vtb.1_Missense_Mutation_p.H1994Y|TTN_uc002unb.2_Missense_Mutation_p.H2040Y|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2040							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)			TTGGTCCAGTGGAGAAGTTCA	0.428000														41			68		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762307	24762308	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:24762307_24762308GG>AA	uc001iru.4	+	5	1400_1401	c.997_998GG>AA	c.(997-999)ggg>AAg	p.G333K	KIAA1217_uc001irs.3_Missense_Mutation_p.G253K|KIAA1217_uc001irt.4_Missense_Mutation_p.G333K|KIAA1217_uc010qcy.2_Missense_Mutation_p.G333K|KIAA1217_uc010qcz.2_Missense_Mutation_p.G333K|KIAA1217_uc001irv.1_Missense_Mutation_p.G183K|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.G51K|KIAA1217_uc001irz.3_Missense_Mutation_p.G51K|KIAA1217_uc001irx.3_Missense_Mutation_p.G51K|KIAA1217_uc001iry.3_Missense_Mutation_p.G51K	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	333	Pro-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AATTCCTTATGGGGGCACCCGC	0.609000														55			13		0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14755050	14755050	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:14755050C>T	uc002mzi.4	-	8	1068	c.920G>A	c.(919-921)tGg>tAg	p.W307*	EMR3_uc010dzp.3_Nonsense_Mutation_p.W255*|EMR3_uc010xnv.2_Nonsense_Mutation_p.W181*	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	307	GPS.				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.W307*(2)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TGTGCTCTTCCAGTAGACACA	0.453000														35			41		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70461373	70461373	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:70461373G>A	uc002lkw.3	-	5	902	c.618C>T	c.(616-618)atC>atT	p.I206I	NETO1_uc002lky.2_Silent_p.I206I	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	206	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GAGGTGCTCGGATGTACCACT	0.468000														30			32		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32813462	32813462	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:32813462G>A	uc001utx.3	+	44	6988	c.6492G>A	c.(6490-6492)aaG>aaA	p.K2164K	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGTTCTGTAAGGATATAGCCG	0.453000														35			14		0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73590890	73590890	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:73590890C>T	uc002avm.4	+	26	4295	c.4103C>T	c.(4102-4104)cCg>cTg	p.P1368L	NEO1_uc010ukx.2_Missense_Mutation_p.P1357L|NEO1_uc010uky.2_Missense_Mutation_p.P1315L|NEO1_uc002avn.4_Missense_Mutation_p.P1361L|NEO1_uc010ukz.2_Missense_Mutation_p.P781L	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	1368					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCAGCAATCCCGCCTCCAGGA	0.587000														43			46		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24356821	24356821	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:24356821G>A	uc003xeb.3	+	16	2028	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	ADAM7_uc003xec.3_Missense_Mutation_p.E411K	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	639	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.E639K(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TCAGTGCAATGAAAATCCTGT	0.343000														20			20		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	69366690	69366690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:69366690C>T	uc009xpn.1	-	2	340	c.217G>A	c.(217-219)Gga>Aga	p.G73R	CTNNA3_uc001jmw.2_Missense_Mutation_p.G73R|CTNNA3_uc001jmx.4_Missense_Mutation_p.G73R|CTNNA3_uc009xpo.1_5'UTR|CTNNA3_uc001jna.2_Missense_Mutation_p.G85R	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	73					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.G73E(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ATCTTCTCTCCCTTGTCTAAT	0.468000														35			23		0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10473091	10473091	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:10473091G>A	uc002moc.4	-	10	1896	c.1518C>T	c.(1516-1518)ccC>ccT	p.P506P	TYK2_uc010dxe.3_Silent_p.P321P|TYK2_uc002mod.2_Silent_p.P506P	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	506	SH2; atypical.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCTGCTCAATGGGGAACTTTC	0.667000														7			8		0	0	1	0	0
APC	324	broad.mit.edu	37	5	112175569	112175569	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:112175569C>T	uc003kpz.4	+	16	4471	c.4278C>T	c.(4276-4278)agC>agT	p.S1426S	APC_uc011cvt.2_Silent_p.S1408S|APC_uc003kpy.4_Silent_p.S1426S|APC_uc010jbz.3_Silent_p.S1143S|APC_uc010jca.3_Silent_p.S726S	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1426	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.S1426fs*47(3)|p.S1426fs*46(2)|p.Y1376fs*41(1)|p.?(1)|p.D1425fs*47(1)|p.P1424fs*19(1)|p.P1427fs*46(1)|p.S1411fs*41(1)|p.K1192fs*3(1)|p.D1425fs*2(1)|p.D1425A(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTCCAGATAGCCCTGGACAAA	0.468000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				22			16		0	0	1	0	0
CMA1	1215	broad.mit.edu	37	14	24974865	24974865	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:24974865C>T	uc001wpp.1	-	5	631	c.601_splice	c.e5-1	p.G201_splice	CMA1_uc010alx.1_Splice_Site_p.G90_splice	NM_001836	NP_001827	P23946	CMA1_HUMAN	Homo sapiens chymase 1, mast cell (CMA1), mRNA.	201	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CCAGAGTCTCCCTGTAGGGGG	0.602000														74			24		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18729866	18729866	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:18729866C>T	uc003wza.3	-	2	611	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	170					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AGCTCTTTTTCCACCTGCTGA	0.443000														38			49		0	0	1	0	0
KHDC1	80759	broad.mit.edu	37	6	73951880	73951880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:73951880C>T	uc003pgo.3	-	3	913	c.412G>A	c.(412-414)Ggc>Agc	p.G138S	KHDC1_uc011dyl.1_Non-coding_Transcript|KHDC1_uc003pgn.4_Missense_Mutation_p.G65S	NM_001251874	NP_001238803	Q4VXA5	KHDC1_HUMAN	Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 1, mRNA.	138	KH; atypical.					integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						CGAGTCTGGCCTGTAGCTGTG	0.547000														20			7		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469863	10469863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:10469863G>A	uc003wtc.3	-	3	1974	c.1745C>T	c.(1744-1746)tCa>tTa	p.S582L		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	582					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTTAAAGATGAAAGACTCAG	0.662000														135			21		0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141304936	141304936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:141304936G>A	uc010huq.1	+	17	1822	c.1822G>A	c.(1822-1824)Gaa>Aaa	p.E608K	RASA2_uc003etz.1_Missense_Mutation_p.E608K|RASA2_uc003eua.1_Missense_Mutation_p.E608K|RASA2_uc011bnc.1_Missense_Mutation_p.E200K	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	608	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GCACCTGAAAGAAGGGTAATT	0.383000														15			9		0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371809	55371809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55371809C>T	uc010rii.2	-	0	66	c.41G>A	c.(40-42)gGa>gAa	p.G14E		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CTGTGTTAATCCTAACAGTAT	0.353000														37			18		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552966	140552966	+	Missense_Mutation	SNP	G	A	A	rs146757937		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140552966G>A	uc003lit.3	+	0	724	c.550G>A	c.(550-552)Gat>Aat	p.D184N		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	184	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAATGTCCATGATAGCGGGGA	0.478000														47			12		0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39499509	39499509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:39499509G>A	uc002rro.3	-	25	1979	c.1888C>T	c.(1888-1890)Cca>Tca	p.P630S	MAP4K3_uc002rrp.3_Missense_Mutation_p.P609S|MAP4K3_uc010yns.2_Missense_Mutation_p.P183S	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	630	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				AAAAGCCCTGGTAAATTATGG	0.333000														52			11		0	0	1	0	0
PBX4	80714	broad.mit.edu	37	19	19681040	19681040	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:19681040G>A	uc002nmy.3	-	3	797	c.510C>T	c.(508-510)tcC>tcT	p.S170S	PBX4_uc010xra.2_Silent_p.S5S|PBX4_uc010xqz.2_Non-coding_Transcript	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 4 (PBX4), transcript variant 1, mRNA.	170							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						TCTCCTTAGGGGAGACAGGCC	0.617000														36			16		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47514289	47514289	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:47514289G>A	uc001cqt.3	+	9	1510	c.1260G>A	c.(1258-1260)tgG>tgA	p.W420*	CYP4X1_uc001cqr.3_Nonsense_Mutation_p.W419*|CYP4X1_uc001cqs.3_Nonsense_Mutation_p.W355*	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	420						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CTGCTGTCTGGAAAAACCCAA	0.418000														43			38		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55581748	55581748	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:55581748G>A	uc010qhy.1	-	34	6154	c.5759C>T	c.(5758-5760)tCa>tTa	p.S1920L	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.S767L|PCDH15_uc021pqy.1_Missense_Mutation_p.S1915L|PCDH15_uc021pqz.1_Missense_Mutation_p.S1890L|PCDH15_uc010qhv.1_Missense_Mutation_p.S1910L|PCDH15_uc010qhw.1_Missense_Mutation_p.S1873L|PCDH15_uc010qhx.1_Missense_Mutation_p.S1844L|PCDH15_uc010qhz.1_Missense_Mutation_p.S1915L|PCDH15_uc010qia.1_Missense_Mutation_p.S1893L|PCDH15_uc001jju.1_Missense_Mutation_p.S1913L|PCDH15_uc010qib.1_Missense_Mutation_p.S1890L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1913					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)				TTGAAGTTCTGAAACATTTGT	0.348000										HNSCC(58;0.16)				57			16		0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62766404	62766404	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:62766404G>A	uc009yon.3	-	4	871	c.750C>T	c.(748-750)ttC>ttT	p.F250F	SLC22A8_uc001nwn.1_Silent_p.F41F|SLC22A8_uc009yom.3_Silent_p.F127F|SLC22A8_uc001nwo.3_Silent_p.F250F|SLC22A8_uc010rmm.2_Silent_p.F159F|SLC22A8_uc001nwp.2_Silent_p.F250F	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	250					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						AGGATGATAGGAAGAAGACGA	0.577000														33			22		0	0	1	0	0
CES2	8824	broad.mit.edu	37	16	66975531	66975531	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:66975531C>T	uc002eqr.3	+	6	2230	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	CES2_uc002eqq.3_Silent_p.F410F|CES2_uc002eqs.3_Silent_p.F253F	NM_003869	NP_003860	O00748	EST2_HUMAN	Homo sapiens carboxylesterase 2 (CES2), transcript variant 1, mRNA.	346					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		ACAATGAATTCGGCTGGCTCA	0.607000														15			15		0	0	1	0	0
GLB1	2720	broad.mit.edu	37	3	33058209	33058209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:33058209C>T	uc011axk.1	-	14	1732	c.1615G>A	c.(1615-1617)Gat>Aat	p.D539N	GLB1_uc003cfh.1_Missense_Mutation_p.D461N|GLB1_uc003cfi.1_Missense_Mutation_p.D491N|GLB1_uc003cfj.1_Missense_Mutation_p.D360N	NM_001079811	NP_001073279	P16278	BGAL_HUMAN	Homo sapiens galactosidase, beta 1 (GLB1), transcript variant 2, mRNA.	491					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				ACCTTAAAATCGTTGATATAT	0.448000														107			53		0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119174748	119174748	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:119174748G>A	uc003ibx.3	+	12	2897	c.2494G>A	c.(2494-2496)Gat>Aat	p.D832N		NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	832	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCCTCCAATGGATTCTGATGT	0.313000														44			62		0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39642748	39642748	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:39642748G>A	uc002hwt.3	-	6	1284	c.1284C>T	c.(1282-1284)gtC>gtT	p.V428V		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	428	Tail.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GCACAGAGGGGACACAGGGCA	0.592000														28			14		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	120053608	120053608	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:120053608C>T	uc004bjt.2	-	1	728	c.627G>A	c.(625-627)gtG>gtA	p.V209V		NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	209						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CACTCACCATCACAGAAATGT	0.627000														14			13		0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119035961	119035961	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:119035961G>A	uc003ibx.3	+	4	1473	c.1070_splice	c.e4-1	p.G357_splice	NDST3_uc011cgf.1_Intron	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	357	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCCCCTAAAGGAACTGAAGAG	0.403000														46			9		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40958353	40958353	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:40958353G>A	uc003jmh.3	+	10	1593	c.1479G>A	c.(1477-1479)ggG>ggA	p.G493G	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	493					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TCCTCGTAGGGAATCAAGCAG	0.488000														53			15		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121381701	121381701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:121381701C>T	uc003yox.3	+	46	5553	c.5288C>T	c.(5287-5289)tCa>tTa	p.S1763L	COL14A1_uc003yoz.3_Missense_Mutation_p.S728L	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1763	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GACCCCTCATCATGTTCTGCC	0.532000														35			58		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76900507	76900507	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:76900507T>C	uc001oyb.2	+	27	3894	c.3622T>C	c.(3622-3624)Ttt>Ctt	p.F1208L	MYO7A_uc010rsm.1_Missense_Mutation_p.F1197L|MYO7A_uc001oyc.2_Missense_Mutation_p.F1208L|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.F419L	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1208	MyTH4 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						CTCCGAGAAGTTTGTCAAGGT	0.622000														106			26		0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8221201	8221201	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:8221201G>A	uc003gkv.4	+	8	1157	c.1056G>A	c.(1054-1056)tcG>tcA	p.S352S	SH3TC1_uc003gkw.4_Silent_p.S276S|SH3TC1_uc003gkx.4_Non-coding_Transcript	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	352	SH3.						binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						ACGCAGCCTCGGGCCGGGTGG	0.697000														2			15		0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53453973	53453973	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53453973C>T	uc002qal.2	-	4	1406	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q	ZNF816_uc010eqj.3_Intron|ZNF816_uc002qak.2_Intron|ZNF816_uc021uzc.1_Missense_Mutation_p.R352Q|ZNF816_uc002qam.2_Missense_Mutation_p.R352Q	NM_001031665	NP_001189386	Q0VGE8	ZN816_HUMAN	Homo sapiens zinc finger protein 816 (ZNF816), transcript variant 1, mRNA.	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R352Q(2)|p.R352R(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GGCTGAATTTCGACCAAAAGT	0.423000														90			31		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2820365	2820365	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:2820365C>T	uc002crk.3	+	12	8583	c.8034C>T	c.(8032-8034)ccC>ccT	p.P2678P		NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	2678	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCCGCAGCCCCCGGAAGCCAA	0.662000														8			3		0	0	1	0	0
HELLS	3070	broad.mit.edu	37	10	96348103	96348103	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:96348103G>A	uc009xuo.3	+	13	1687	c.1582G>A	c.(1582-1584)Gcc>Acc	p.A528T	HELLS_uc001kjs.3_Missense_Mutation_p.A466T|HELLS_uc001kjt.3_Missense_Mutation_p.A482T|HELLS_uc009xul.3_Missense_Mutation_p.A384T|HELLS_uc009xum.3_Missense_Mutation_p.A352T|HELLS_uc009xun.3_Missense_Mutation_p.A358T|HELLS_uc001kju.3_Missense_Mutation_p.A121T|HELLS_uc009xup.3_Non-coding_Transcript|HELLS_uc009xuq.3_Missense_Mutation_p.A344T|HELLS_uc009xur.3_Non-coding_Transcript	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	Homo sapiens helicase, lymphoid-specific (HELLS), mRNA.	482					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	p.E527A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		CTTTTATACAGCCATTGTGAA	0.363000														29			6		0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307401	39307401	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:39307401G>A	uc021wwc.1	-	1	736	c.696C>T	c.(694-696)ttC>ttT	p.F232F	CX3CR1_uc021wwa.1_Silent_p.F200F|CX3CR1_uc021wwb.1_Silent_p.F200F|CX3CR1_uc003cjl.3_Silent_p.F200F|CX3CR1_uc021wwd.1_Silent_p.F200F	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	200					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GGGGGAGTAGGAAGCCAAGAA	0.463000														80			33		0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6431659	6431659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:6431659C>T	uc003spx.3	+	2	453	c.212C>T	c.(211-213)tCc>tTc	p.S71F	RAC1_uc003spw.3_Missense_Mutation_p.S71F|RAC1_uc021zzg.1_Missense_Mutation_p.S27F	NM_006908	NP_008839	P63000	RAC1_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA.	71					T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.L70L(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CGCCCCCTATCCTATCCGCAA	0.408000														154			24		0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97484827	97484827	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:97484827G>A	uc001vmw.3	+	1	815	c.791G>A	c.(790-792)tGg>tAg	p.W264*		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	264						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GGGGCCACTTGGAAAACCTCT	0.512000														28			11		0	0	1	0	0
ZNF165	7718	broad.mit.edu	37	6	28057075	28057075	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:28057075G>A	uc021yro.1	+	3	2112	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	ZNF165_uc003nkh.3_Missense_Mutation_p.E429K|ZNF165_uc003nki.4_Missense_Mutation_p.E429K|ZSCAN12P1_uc003nkj.4_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	Homo sapiens zinc finger protein 165 (ZNF165), mRNA.	429					viral reproduction	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(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAAACCCTACGAGTGTAGTGA	0.448000														45			8		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39266535	39266535	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:39266535A>G	uc001uwv.3	+	0	5363	c.5054A>G	c.(5053-5055)aAa>aGa	p.K1685R		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1685					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AAAATATTGAAAGTGGAGGAC	0.483000														46			18		0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48370815	48370815	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:48370815G>A	uc001jex.3	+	1	445	c.283G>A	c.(283-285)Gga>Aga	p.G95R	ZNF488_uc021ppx.1_Missense_Mutation_p.G95R	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GAAGACACGTGGAGAGCAGAG	0.687000														20			6		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79410210	79410210	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:79410210G>A	uc003hlb.2	+	58	9374	c.8934G>A	c.(8932-8934)cgG>cgA	p.R2978R		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2973	Calx-beta 4.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTCTTCACGGATTACATTTC	0.418000														31			21		0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44842958	44842958	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:44842958C>G	uc003cnx.4	+	11	1388	c.1239C>G	c.(1237-1239)aaC>aaG	p.N413K	KIF15_uc010hiq.3_Missense_Mutation_p.N316K|KIF15_uc003cny.1_Missense_Mutation_p.N48K	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	413					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AGAAGACTAACTATATGGAGT	0.303000														67			15		0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52699848	52699848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:52699848C>T	uc010snq.2	+	7	1164	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F	KRT86_uc009zmg.3_Missense_Mutation_p.S344F|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Missense_Mutation_p.S344F	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	344	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTTCAGAATTCCAAGCTGGAG	0.597000											OREG0021845	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			7		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56243460	56243460	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56243460T>C	uc002qly.3	-	1	1765	c.1737A>G	c.(1735-1737)gtA>gtG	p.V579V		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	579						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ATGAAGCTATTACCAAATGTT	0.353000														26			15		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111576448	111576448	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:111576448C>T	uc003kpv.1	-	9	1129	c.855G>A	c.(853-855)tgG>tgA	p.W285*		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	285	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CACTGCACTTCCAGAGGTGCT	0.323000														28			18		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39225806	39225806	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:39225806G>A	uc003cjk.2	-	1	5360	c.5131C>T	c.(5131-5133)Cac>Tac	p.H1711Y	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.H394Y|XIRP1_uc021wvz.1_Missense_Mutation_p.H1711Y	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1711	Interaction with FLNC.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCTTTCTGGTGGAGCAGGGCC	0.572000														66			40		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141727502	141727502	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141727502C>T	uc003vwy.3	+	9	1242	c.1188C>T	c.(1186-1188)gtC>gtT	p.V396V		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	396	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGAGGGAAGTCGTGGAGAGAA	0.458000														9			17		0	0	1	0	0
ZNF497	162968	broad.mit.edu	37	19	58868095	58868096	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58868095_58868096GG>TA	uc002qsh.2	-	2	1189_1190	c.906_907CC>TA	c.(904-909)ttcccc>ttTAcc	p.P303T	A1BG_uc002qsf.2_Intron|ZNF497_uc002qsi.2_Missense_Mutation_p.P303T|ZNF497_uc021vcw.1_Missense_Mutation_p.P303T|BC023201_uc002qsj.1_5'Flank|BC023201_uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	Homo sapiens zinc finger protein 497 (ZNF497), mRNA.	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P303P(1)		central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TCGGCGCAGGGGAAGGGCTTCT	0.723000														6			5		0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1317572	1317572	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:1317572C>T	uc004cpk.2	-	4	495	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	CRLF2_uc022brt.1_Missense_Mutation_p.E165K|CRLF2_uc004cpl.2_Missense_Mutation_p.E53K|CRLF2_uc022brs.1_Missense_Mutation_p.E165K	NM_022148	NP_071431	Q9HC73	CRLF2_HUMAN	Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA.	165	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)				CAGGTATTTTCCTGTTTGGAC	0.468000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""									17			5		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9313035	9313035	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:9313035G>A	uc001qvl.3	-	23	2953	c.2924C>T	c.(2923-2925)cCa>cTa	p.P975L	PZP_uc009zgl.3_Missense_Mutation_p.P761L|PZP_uc010sgo.1_Non-coding_Transcript	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACAGCCATATGGCATCTGGAG	0.403000														71			14		0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207105086	207105086	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:207105086C>T	uc001hez.3	-	8	2254	c.2070G>A	c.(2068-2070)agG>agA	p.R690R	PIGR_uc009xbz.3_Silent_p.R690R	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	690						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTCCAAATTCCCTGGAGTTCT	0.517000														90			57		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11774974	11774974	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:11774974G>A	uc002gne.3	+	51	10181	c.10113G>A	c.(10111-10113)caG>caA	p.Q3371Q	DNAH9_uc010coo.3_Silent_p.Q2665Q	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3371					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACTTCAAACAGCAGGAAAGGA	0.478000														45			89		0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769133	31769133	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:31769133G>A	uc002nsy.4	-	1	1631	c.1566C>T	c.(1564-1566)atC>atT	p.I522I		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	522					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATTTGAGGATATCAAGCC	0.507000														104			43		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140746204	140746204	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140746204C>T	uc003lju.2	+	0	2307	c.2307C>T	c.(2305-2307)atC>atT	p.I769I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Silent_p.I769I	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	778					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCACCTGATCTTTCCCCAGC	0.552000														118			38		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90073739	90073739	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:90073739G>A	uc003kju.3	+	61	12641	c.12545G>A	c.(12544-12546)gGg>gAg	p.G4182E	GPR98_uc003kjt.3_Missense_Mutation_p.G1888E	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4182					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)		CGAGGCCCAGGGATTTTGGGG	0.413000														12			7		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6937593	6937593	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:6937593G>A	uc002mfw.3	+	19	2627	c.2589G>A	c.(2587-2589)acG>acA	p.T863T	EMR1_uc010dvc.3_Silent_p.T798T|EMR1_uc010dvb.3_Silent_p.T844T|EMR1_uc010xji.2_Silent_p.T722T|EMR1_uc010xjj.2_Silent_p.T686T	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	863					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTGGGAAGACGAAGCCCAGCT	0.557000														51			29		0	0	1	0	0
RBMY1A3P	286557	broad.mit.edu	37	Y	9160425	9160425	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrY:9160425C>T	uc004frl.1	-	0		c.59G>A								Homo sapiens RNA binding motif protein, Y-linked, family 1, member A3 pseudogene (RBMY1A3P), non-coding RNA.																		TCTCATTGGTCTCTCTATTGA	0.383000														55			4		0	0	1	0	0
PAGE5	90737	broad.mit.edu	37	X	55247856	55247856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:55247856G>A	uc004duj.3	+	1	343	c.101G>A	c.(100-102)gGa>gAa	p.G34E	PAGE5_uc004duk.3_Missense_Mutation_p.G14E	NM_130467	NP_001013453	Q96GU1	GGEE1_HUMAN	Homo sapiens P antigen family, member 5 (prostate associated) (PAGE5), transcript variant 1, mRNA.	34										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						TCAGAAAGAGGAAATGACCAA	0.328000														16			15		0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122805454	122805454	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:122805454C>T	uc001pym.3	+	4	1602	c.1305C>T	c.(1303-1305)ctC>ctT	p.L435L		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	435										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GCCACAATCTCAAAGAAACCT	0.398000														4			23		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43619153	43619153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:43619153C>T	uc003bdt.2	-	10	1404	c.1277G>A	c.(1276-1278)gGt>gAt	p.G426D		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	426					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCTCTCCACACCGCCTGCCTT	0.627000														114			38		0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10788365	10788365	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:10788365G>A	uc002czz.1	-	0	438	c.366C>T	c.(364-366)ctC>ctT	p.L122L		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	122					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TGTCCTGCAAGAGCCTCATGG	0.652000														34			60		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064409	9064409	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9064409G>A	uc002mkp.3	-	2	23241	c.23037C>T	c.(23035-23037)ccC>ccT	p.P7679P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7681	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTTCACAAAGGGAGGGCTAG	0.547000														27			20		0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63065136	63065136	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:63065136G>A	uc009yor.3	+	3	975	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	SLC22A10_uc010rmo.1_Non-coding_Transcript|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	256						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TATGTCTTCCGAGACTGGCAA	0.483000														75			24		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71492659	71492659	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:71492659C>T	uc003kbw.4	+	4	3718	c.3477C>T	c.(3475-3477)ttC>ttT	p.F1159F	MAP1B_uc010iyw.1_Silent_p.F1176F|MAP1B_uc010iyx.1_Silent_p.F1033F|MAP1B_uc010iyy.1_Silent_p.F1033F	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1159						microtubule|microtubule associated complex	structural molecule activity	p.F1159F(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTCAGGAATTCGTAAATATCA	0.443000														7			8		0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99361879	99361879	+	Silent	SNP	C	T	T	rs149819086		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:99361879C>T	uc001vno.3	-	13	1091	c.1014G>A	c.(1012-1014)ccG>ccA	p.P338P		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	338					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	p.P338P(2)|p.P338Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CATCGAAGATCGGGACCATGA	0.517000														25			8		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871210	8871210	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:8871210G>A	uc002qzc.2	-	29	5138	c.4956C>T	c.(4954-4956)agC>agT	p.S1652S	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Silent_p.S1553S|KIDINS220_uc002qzb.2_Silent_p.S506S	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1652					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATTCGGAAGGGCTTTTCTTGT	0.517000														99			16		0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46760877	46760877	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:46760877G>A	uc001ndf.4	+	13	1831	c.1788G>A	c.(1786-1788)cgG>cgA	p.R596R		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	596	Peptidase S1.				STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GCTGTGACCGGGATGGGAAAT	0.478000														37			44		0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104174841	104174841	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:104174841G>A	uc001kvg.1	-	3	1430	c.903C>T	c.(901-903)atC>atT	p.I301I	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Silent_p.I301I	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	301					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCACCTCATCGATGTCAGTCT	0.672000														26			8		0	0	1	0	0
CAAP1	79886	broad.mit.edu	37	9	26842533	26842533	+	Silent	SNP	G	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:26842533G>C	uc003zqc.3	-	5	965	c.852C>G	c.(850-852)gtC>gtG	p.V284V	CAAP1_uc003zqb.3_Silent_p.V139V	NM_024828	NP_001161047	Q9H8G2	CI082_HUMAN	Homo sapiens chromosome 9 open reading frame 82 (C9orf82), transcript variant 1, mRNA.	284																	CTTCACTTTGGACTGTATTTT	0.458000														21			101		0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38295502	38295502	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:38295502C>T	uc001wuj.3	+	10	1369	c.1267C>T	c.(1267-1269)Cag>Tag	p.Q423*	TTC6_uc001wug.3_Intron|TTC6_uc001wuh.3_Nonsense_Mutation_p.Q326*|TTC6_uc001wui.3_Non-coding_Transcript					SubName: Full=TTC6 protein;											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		GGTCTGTCTTCAGATGGGTAA	0.368000														38			25		0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61378629	61378629	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:61378629G>A	uc002ljk.4	+	3	399	c.228_splice	c.e3+1	p.K76_splice	SERPINB11_uc010xes.2_Splice_Site|SERPINB11_uc010dqd.3_Splice_Site|SERPINB11_uc002ljj.4_Splice_Site|SERPINB11_uc010dqe.3_Splice_Site|SERPINB11_uc010dqf.3_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	76					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.?(1)		breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CTCACCTAAGGTATGATAATA	0.368000														36			28		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22169793	22169793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:22169793G>A	uc009vqd.3	-	65	8798	c.8758C>T	c.(8758-8760)Cct>Tct	p.P2920S	HSPG2_uc001bfj.3_Missense_Mutation_p.P2919S	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2919	Ig-like C2-type 14.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CACTCACCAGGAATGGGTCCT	0.622000														22			31		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177247779	177247779	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:177247779G>A	uc001glf.3	+	6	1405	c.1093G>A	c.(1093-1095)Gac>Aac	p.D365N	FAM5B_uc010pna.1_Missense_Mutation_p.D115N|FAM5B_uc001glg.3_Missense_Mutation_p.D260N	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	365						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						CTGGGCCATGGACACCAGCCT	0.562000														214			49		0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14159999	14159999	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:14159999C>T	uc002mxx.3	+	9	1698	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	425	Fibronectin type-III 3.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TTTGGCGACTCCAAGATGCCC	0.647000											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			18		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23865993	23865993	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:23865993C>T	uc001wjv.3	-	18	2273	c.2202G>A	c.(2200-2202)gaG>gaA	p.E734E		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	734	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.P733T(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGAACTGTCCCTCAGGGATGG	0.537000														46			12		0	0	1	0	0
TMEM135	65084	broad.mit.edu	37	11	87032350	87032350	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:87032350C>T	uc001pch.3	+	14	1554	c.1352C>T	c.(1351-1353)cCa>cTa	p.P451L	TMEM135_uc010rtt.2_Missense_Mutation_p.P312L|TMEM135_uc001pci.3_Missense_Mutation_p.P429L	NM_022918	NP_075069	Q86UB9	TM135_HUMAN	Homo sapiens transmembrane protein 135 (TMEM135), transcript variant 1, mRNA.	451						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACTGTAACACCAGAGTTGCCC	0.398000														46			17		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56086984	56086984	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:56086984C>T	uc001shh.3	-	19	2885	c.2665G>A	c.(2665-2667)Ggc>Agc	p.G889S	ITGA7_uc001shg.3_Missense_Mutation_p.G885S|ITGA7_uc010sps.2_Missense_Mutation_p.G792S|ITGA7_uc009znw.3_Missense_Mutation_p.G132S|ITGA7_uc009znx.3_Missense_Mutation_p.G766S	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	929					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCTGCCCGCCCTCCAGCTCA	0.602000														64			19		0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	117884941	117884941	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:117884941G>C	uc001lcj.3	-	5	1259	c.561C>G	c.(559-561)tgC>tgG	p.C187W	GFRA1_uc001lci.3_Missense_Mutation_p.C182W|GFRA1_uc009xyr.3_Missense_Mutation_p.C182W	NM_005264	NP_005255	P56159	GFRA1_HUMAN	Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.	187					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGCGGCGGTTGCAGACATCGT	0.607000														30			3		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754784	49754784	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:49754784C>T	uc003ozu.3	-	0	270	c.117G>A	c.(115-117)agG>agA	p.R39R		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	39					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AAGCCTTGATCCTCTGGTTGT	0.463000														105			24		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40714396	40714396	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:40714396C>T	uc002xkg.3	-	27	4128	c.3944G>A	c.(3943-3945)aGa>aAa	p.R1315K	PTPRT_uc010ggj.3_Missense_Mutation_p.R1334K|PTPRT_uc010ggi.3_Missense_Mutation_p.R518K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1315	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.T1314A(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCGGAATATTCTGTGGATGAT	0.577000														46			55		0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41522597	41522597	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:41522597C>T	uc002opr.1	+	8	1348	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Silent_p.F247F	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	447					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CGGAATTGTTCCTCTTCTTCA	0.572000														31			12		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55566593	55566593	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:55566593C>T	uc010qhq.2	-	34	5184	c.4789G>A	c.(4789-4791)Ggg>Agg	p.G1597R	PCDH15_uc010qhr.2_Missense_Mutation_p.G1592R	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant K, mRNA.	0					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	p.D1596Y(1)|p.L1597L(1)		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)				GAAAATGGCCCCTTTGATAAT	0.463000										HNSCC(58;0.16)				196			48		0	0	1	0	0
OR10A4	283297	broad.mit.edu	37	11	6898226	6898226	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:6898226G>A	uc010rat.2	+	0	371	c.348G>A	c.(346-348)ctG>ctA	p.L116L		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 4 (OR10A4), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCTGCCTCCTGGCCACCATGG	0.542000														57			11		0	0	1	0	0
INHBC	3626	broad.mit.edu	37	12	57843538	57843538	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:57843538G>A	uc001snv.1	+	1	919	c.792G>A	c.(790-792)tgG>tgA	p.W264*		NM_005538	NP_005529	P55103	INHBC_HUMAN	Homo sapiens inhibin, beta C (INHBC), mRNA.	264					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding	p.D263N(1)		breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GGCACGACTGGATCATCCAGC	0.552000														35			12		0	0	1	0	0
FMR1NB	158521	broad.mit.edu	37	X	147090223	147090223	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:147090223C>T	uc004fcm.3	+	3	698	c.624C>T	c.(622-624)ttC>ttT	p.F208F	5S_rRNA_uc022cgh.1_5'Flank	NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA.	208						integral to membrane		p.F208L(2)|p.L207I(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCTCTTTTCTGGAGGAGGT	0.378000														4			43		0	0	1	0	0
CRTC1	23373	broad.mit.edu	37	19	18870861	18870861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:18870861C>T	uc010ebv.3	+	8	845	c.757C>T	c.(757-759)Ccc>Tcc	p.P253S	CRTC1_uc002nkb.4_Missense_Mutation_p.P237S|CRTC1_uc010ebw.3_Missense_Mutation_p.P102S	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	237					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						AGCCCTGATCCCCGCCACCCA	0.687000														55			43		0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238450	48238450	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:48238450T>G	uc010rhs.2	+	0	89	c.89T>G	c.(88-90)cTc>cGc	p.L30R		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GTGGTGTTTCTCCCCGTGTAC	0.502000														60			77		0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54343061	54343061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:54343061G>A	uc003hag.4	-	8	2007	c.1751C>T	c.(1750-1752)tCg>tTg	p.S584L	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.S488L|LNX1_uc003hah.4_Non-coding_Transcript	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	584	PDZ 3.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GAGTACTATCGAGGATGATGT	0.522000														9			89		0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41033056	41033056	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:41033056C>T	uc021wjj.1	+	0	570	c.570C>T	c.(568-570)ccC>ccT	p.P190P	B3GALT5_uc002yyb.1_Silent_p.P190P|B3GALT5_uc002yye.2_Silent_p.P190P|B3GALT5_uc002yyi.1_Silent_p.P190P|B3GALT5_uc002yyj.1_Silent_p.P190P|B3GALT5_uc002yyk.1_Silent_p.P190P|B3GALT5_uc002yyl.1_Silent_p.P190P|B3GALT5_uc002yym.1_Silent_p.P190P	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 (B3GALT5), transcript variant 5, mRNA.	190					protein glycosylation	Golgi membrane|endoplasmic reticulum|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				ATGAGTTTCCCATCAGGCAGC	0.463000														54			19		0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266145	3266145	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:3266145G>A	uc010uwv.2	+	0	584	c.436G>A	c.(436-438)Gat>Aat	p.D146N						Homo sapiens olfactory receptor, family 1, subfamily F, member 2 (OR1F2P), non-coding RNA.																		CATCTTCTGCGATGTGACTCC	0.522000														17			11		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751020	140751020	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140751020C>T	uc003ljw.2	+	0	1059	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.S353S|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	356	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTGAATCCCAACATATAC	0.418000														34			8		0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117168952	117168952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:117168952G>A	uc004biy.4	-	8	1410	c.770C>T	c.(769-771)tCc>tTc	p.S257F	DFNB31_uc004bix.3_Missense_Mutation_p.S289F|DFNB31_uc004biz.4_Missense_Mutation_p.S640F|DFNB31_uc004bja.4_Missense_Mutation_p.S640F	NM_001083885	NP_001077354	Q9P202	WHRN_HUMAN	Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA.	640					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGTGCAGAGGAGGTCCCTGG	0.672000														4			44		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74973893	74973894	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:74973893_74973894CC>TT	uc001xqa.3	-	25	4282_4283	c.3895_3896GG>AA	c.(3895-3897)gga>AAa	p.G1299K		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1299	Cys-rich.|EGF-like 14; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AATGCAGTCTCCGTTCGGGGCC	0.550000														36			42		0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70346835	70346835	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:70346835G>A	uc004dyy.3	+	19	2901	c.2702G>A	c.(2701-2703)aGt>aAt	p.S901N	MED12_uc011mpq.1_Missense_Mutation_p.S901N|MED12_uc004dyz.3_Missense_Mutation_p.S901N|MED12_uc004dza.3_Missense_Mutation_p.S748N|MED12_uc010nla.3_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	901					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AATGAACTGAGTGTAGTTGAG	0.537000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome							5			39		0	0	1	0	0
LOC729020	729020	broad.mit.edu	37	10	105006213	105006213	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:105006213G>A	uc009xxi.2	+	0	570	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	BC040734_uc001kwr.3_Intron	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN	Homo sapiens rcRPE (LOC729020), mRNA.	154					carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity										GAAATTCATGGAAGATATGAT	0.473000														47			15		0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78010772	78010772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:78010772C>T	uc022bzj.1	+	0	406	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	LPAR4_uc010nme.3_Missense_Mutation_p.R136C	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	136						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TAGTGTGGATCGTTTCCTGGC	0.483000														45			36		0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142000977	142000977	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142000977C>T	uc011kro.1	+	1	114	c.69C>T	c.(67-69)gtC>gtT	p.V23V	TRBV2_uc022amx.1_Non-coding_Transcript|TRBV2_uc022amy.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AACCTGAAGTCACCCAGACTC	0.418000														19			15		0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155719082	155719082	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:155719082C>T	uc003ioo.3	+	2	444	c.271C>T	c.(271-273)Cga>Tga	p.R91*	RBM46_uc011cim.1_Nonsense_Mutation_p.R91*|RBM46_uc003iop.1_Nonsense_Mutation_p.R91*	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	91	RRM 1.						RNA binding|nucleotide binding	p.R91Q(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				ATATGAATTTCGACTTATGAT	0.343000														30			34		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78848477	78848477	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:78848477G>A	uc004akc.2	+	21	3369	c.2831G>A	c.(2830-2832)gGa>gAa	p.G944E		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	647					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AGATGCCAAGGAAGTGGCCCT	0.527000														7			33		0	0	1	0	0
STBD1	8987	broad.mit.edu	37	4	77230699	77230699	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:77230699G>A	uc003hka.3	+	1	1367	c.623G>A	c.(622-624)aGg>aAg	p.R208K	FAM47E_uc003hjy.3_3'UTR|FAM47E_uc011cbv.2_3'UTR|STBD1_uc011cbw.2_Missense_Mutation_p.R59K	NM_003943	NP_003934	O95210	STBD1_HUMAN	Homo sapiens starch binding domain 1 (STBD1), mRNA.	208					carbohydrate metabolic process|muscle contraction	integral to plasma membrane|membrane fraction	carbohydrate binding|catalytic activity|protein binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	13			Lung(101;0.196)			ATGGTGCCTAGGCACTCATCT	0.498000														41			7		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114277387	114277387	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:114277387C>T	uc003ibe.4	+	37	7713	c.7613C>T	c.(7612-7614)cCt>cTt	p.P2538L	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.P2553L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2505					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCCCTTTCTCCTGACACCCCC	0.537000														131			26		0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47298352	47298352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:47298352C>T	uc001ner.1	+	4	1224	c.1033C>T	c.(1033-1035)Cca>Tca	p.P345S	MADD_uc001neq.2_Missense_Mutation_p.P345S|MADD_uc001nev.1_Missense_Mutation_p.P345S|MADD_uc001nes.1_Missense_Mutation_p.P345S|MADD_uc001net.1_Missense_Mutation_p.P345S|MADD_uc009yln.1_Missense_Mutation_p.P345S|MADD_uc001neu.1_Missense_Mutation_p.P345S|MADD_uc001nez.2_Missense_Mutation_p.P345S|MADD_uc001new.2_Missense_Mutation_p.P345S|MADD_uc001nex.2_Missense_Mutation_p.P345S	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	345	DENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AATGATCTACCCACTGGAGTA	0.527000														59			33		0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11367483	11367483	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:11367483A>T	uc002rbd.1	-	5	1214	c.765T>A	c.(763-765)gaT>gaA	p.D255E		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	255	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GTGATATATAATCCGGTGTTC	0.408000														209			31		0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120009367	120009367	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:120009367C>T	uc011muc.2	-	0	413	c.158G>A	c.(157-159)gGa>gAa	p.G53E		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	53										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCCTGCGACTCCGACCACCTC	0.741000														4			45		0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209936438	209936438	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:209936438G>A	uc001hho.3	+	6	996	c.576_splice	c.e6+1	p.K192_splice	TRAF3IP3_uc001hhm.2_Splice_Site_p.K192_splice|TRAF3IP3_uc001hhn.3_Splice_Site_p.K172_splice|TRAF3IP3_uc009xcr.3_Splice_Site_p.K192_splice	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	192						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TCTGGATAAGGTAAGCACATA	0.403000														17			26		0	0	1	0	0
KLF13	51621	broad.mit.edu	37	15	31664399	31664399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:31664399G>A	uc001zfo.3	+	1	1097	c.764G>A	c.(763-765)gGa>gAa	p.G255E		NM_015995	NP_057079	Q9Y2Y9	KLF13_HUMAN	Homo sapiens Kruppel-like factor 13 (KLF13), mRNA.	255					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)	2		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		TTCCACCCGGGAATGCTGCAG	0.711000														22			14		0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123798171	123798171	+	Silent	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:123798171A>G	uc010tap.2	-	22	3216	c.3216T>C	c.(3214-3216)ttT>ttC	p.F1072F	SBNO1_uc010tao.2_Silent_p.F1071F|SBNO1_uc010taq.2_Silent_p.F23F|SBNO1_uc001ues.1_Silent_p.F23F	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1072							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		AGTTACCTTTAAAAAATTCTC	0.313000														23			6		0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91861880	91861880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:91861880C>T	uc001doa.4	-	2	253	c.154G>A	c.(154-156)Gag>Aag	p.E52K	HFM1_uc010osu.2_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.E52K	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	52							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AATTCTTCCTCTAACTCCTGA	0.323000														6			7		0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62459937	62459937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:62459937C>T	uc003dll.2	-	23	3748	c.3388G>A	c.(3388-3390)Gtc>Atc	p.V1130I	CADPS_uc003dlj.1_Missense_Mutation_p.V80I|CADPS_uc003dlk.1_Missense_Mutation_p.V578I|CADPS_uc003dlm.2_Missense_Mutation_p.V1091I|CADPS_uc003dln.2_Missense_Mutation_p.V1051I|CADPS_uc021wzv.1_Missense_Mutation_p.V1121I	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1130					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GACTGTGGGACTCGAAAATCT	0.373000														51			31		0	0	1	0	0
TK2	7084	broad.mit.edu	37	16	66545943	66545943	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:66545943C>T	uc002eos.3	-	9	1077	c.726G>A	c.(724-726)gaG>gaA	p.E242E	TK2_uc021tjp.1_Intron|TK2_uc010vip.2_Silent_p.E145E|TK2_uc002eor.3_Silent_p.E211E|TK2_uc010cdq.3_3'UTR|TK2_uc010viq.2_Silent_p.E224E|TK2_uc010vir.2_Silent_p.E217E|TK2_uc010cdr.3_Silent_p.E193E	NM_004614	NP_004605	O00142	KITM_HUMAN	Homo sapiens thymidine kinase 2, mitochondrial (TK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	242					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		CTAACATCCTCTCCATGTGGT	0.483000														23			12		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61946784	61946784	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:61946784C>T	uc011aau.2	+	19	2617	c.2517C>T	c.(2515-2517)tcC>tcT	p.S839S	COL20A1_uc011aav.2_Silent_p.S660S	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	839					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTGACGGCTCCCTCCCAGGTG	0.701000														8			3		0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73489821	73489821	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:73489821G>A	uc010wsa.2	+	16	2453	c.2261G>A	c.(2260-2262)gGg>gAg	p.G754E	KIAA0195_uc002jnz.4_Missense_Mutation_p.G744E|KIAA0195_uc010wsb.2_Missense_Mutation_p.G384E|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	744					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCCTGTCTGGGTATTGCTCT	0.602000														87			20		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101748841	101748841	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:101748841C>T	uc003knn.3	-	8	1651	c.1479G>A	c.(1477-1479)ggG>ggA	p.G493G	SLCO6A1_uc003kno.3_Silent_p.G240G|SLCO6A1_uc003knp.3_Silent_p.G493G|SLCO6A1_uc003knq.3_Silent_p.G431G	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	493						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTCCCAACTTCCCTGTTCTGT	0.308000														21			13		0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7949407	7949407	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:7949407G>A	uc010rbh.2	-	0	803	c.803C>T	c.(802-804)cCg>cTg	p.P268L		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTGGTTTCCGGTGAGTAGCC	0.453000														52			11		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70513183	70513183	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:70513183G>A	uc011caq.2	-	1	296	c.180C>T	c.(178-180)ttC>ttT	p.F60F	UGT2A1_uc010ihu.3_Silent_p.F60F|UGT2A1_uc003hem.4_Silent_p.F60F|UGT2A1_uc010iht.3_Silent_p.F60F	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	60					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTGGTGTGATGAAAAGTGCAC	0.378000														52			17		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466654	56466654	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56466654G>A	uc002qmh.3	+	2	1301	c.1230G>A	c.(1228-1230)atG>atA	p.M410I	NLRP8_uc010etg.3_Missense_Mutation_p.M410I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	410	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AACAGCAAATGGAGAGAGGAA	0.483000														46			46		0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50187175	50187175	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:50187175C>T	uc009zlk.2	-	9	3502	c.3300G>A	c.(3298-3300)gaG>gaA	p.E1100E	NCKAP5L_uc001rvc.3_Silent_p.E304E|NCKAP5L_uc001rvb.2_Silent_p.E693E	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	1096	Pro-rich.							p.E691E(1)|p.E1100E(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CCAGGCTGTCCTCCGAGGGCA	0.662000														61			26		0	0	1	0	0
ANP32A	8125	broad.mit.edu	37	15	69080189	69080189	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:69080189C>A	uc002arl.3	-	1	295	c.124G>T	c.(124-126)Gaa>Taa	p.E42*		NM_006305	NP_006296	P39687	AN32A_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member A (ANP32A), mRNA.	42					intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding			endometrium(1)|large_intestine(1)|lung(2)	4						TCCAGTTCTTCAAATTCATCT	0.453000														51			75		2.26256e-52	2.29646e-52	1	1	0
PRSS48	345062	broad.mit.edu	37	4	152212279	152212279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:152212279G>A	uc011cif.2	+	4	661	c.661G>A	c.(661-663)Gga>Aga	p.G221R	PRSS48_uc011cig.2_Missense_Mutation_p.G78R	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	Homo sapiens protease, serine, 48 (PRSS48), mRNA.	221	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						GGGTGATTCTGGAGGGCCTCT	0.433000														62			9		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	344305	344305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:344305C>T	uc001qic.2	-	6	872	c.782G>A	c.(781-783)gGa>gAa	p.G261E	SLC6A13_uc009zdj.2_Missense_Mutation_p.G261E|SLC6A13_uc010sdl.2_Missense_Mutation_p.G169E|SLC6A13_uc010sdm.1_Missense_Mutation_p.G142E	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	261					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)			AAACTGAATTCCTTGGGCTGC	0.557000														64			19		0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42287590	42287590	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:42287590G>A	uc021sjp.1	-	11	1215	c.1215C>T	c.(1213-1215)gcC>gcT	p.A405A	PLA2G4E_uc010udc.2_5'UTR|PLA2G4E_uc001zov.2_Silent_p.A29A	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	393	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)		TGATGTAGCTGGCACAGTCCA	0.602000														20			15		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166910643	166910643	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:166910643G>A	uc003irh.2	+	2	927	c.280_splice	c.e2+1	p.G94_splice	TLL1_uc021xud.1_Splice_Site_p.G94_splice|TLL1_uc011cjn.2_Splice_Site_p.G94_splice|TLL1_uc011cjo.2_Splice_Site	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	94					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ACATACCACAGGTATGGTTGA	0.343000														66			62		0	0	1	0	0
ZFAND6	54469	broad.mit.edu	37	15	80429888	80429888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:80429888C>T	uc002bfe.2	+	6	967	c.545C>T	c.(544-546)tCt>tTt	p.S182F	ZFAND6_uc021srv.1_Missense_Mutation_p.S144F|ZFAND6_uc021srw.1_Missense_Mutation_p.S182F|ZFAND6_uc002bfg.2_Missense_Mutation_p.S170F|ZFAND6_uc002bff.2_Missense_Mutation_p.S182F|ZFAND6_uc021srx.1_Missense_Mutation_p.S182F|ZFAND6_uc021sry.1_Missense_Mutation_p.S182F|ZFAND6_uc002bfh.2_Missense_Mutation_p.S182F|ZFAND6_uc002bfi.2_Missense_Mutation_p.S182F	NM_019006	NP_061879	Q6FIF0	ZFAN6_HUMAN	Homo sapiens zinc finger, AN1-type domain 6 (ZFAND6), transcript variant 1, mRNA.	182							DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						CACAATTGCTCTTACAATTAC	0.388000														42			17		0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132552996	132552996	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:132552996G>A	uc003kyn.1	-	12	1751	c.1533C>T	c.(1531-1533)aaC>aaT	p.N511N	FSTL4_uc003kym.1_Silent_p.N160N	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	511						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGATGTACCGGTTCCGGACAT	0.498000														46			21		0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109027097	109027097	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:109027097G>A	uc003dxo.3	-	5	687	c.440C>T	c.(439-441)tCg>tTg	p.S147L		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	147						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCGTTTCCTCGAACATCGCTG	0.428000														39			12		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201039419	201039419	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:201039419T>G	uc001gvv.3	-	16	2568	c.2341A>C	c.(2341-2343)Atc>Ctc	p.I781L		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	781					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGGCTGAAGATGAAGAAGGAG	0.587000														54			60		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55264217	55264217	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:55264217C>T	uc003pcm.1	+	7	1185	c.1099C>T	c.(1099-1101)Ctg>Ttg	p.L367L		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	367						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGGAATCCTTCTGTTGGTTAT	0.378000														31			9		0	0	1	0	0
C14orf102	55051	broad.mit.edu	37	14	90759093	90759093	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:90759093G>T	uc001xyi.2	-	8	2023	c.1790C>A	c.(1789-1791)cCt>cAt	p.P597H	C14orf102_uc010atp.1_Missense_Mutation_p.P102H|C14orf102_uc001xyj.2_Missense_Mutation_p.P366H	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	597							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		GGTCTTATCAGGGCGCCAGGG	0.597000														163			32		1.26612e-14	1.27709e-14	1	1	0
LRFN2	57497	broad.mit.edu	37	6	40359793	40359793	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:40359793C>T	uc003oph.1	-	2	2724	c.2259G>A	c.(2257-2259)acG>acA	p.T753T		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	753						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCTGCGCTTCGTCCAGATGT	0.642000														38			27		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412124	51412124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:51412124G>A	uc001nhi.2	-	0	325	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	91					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)				ACCTTGGAAGGAAATAGTCTT	0.438000														27			11		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833981	61833981	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:61833981G>A	uc001jky.3	-	36	6996	c.6658C>T	c.(6658-6660)Caa>Taa	p.Q2220*	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.	2220					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			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						GCTTTCATTTGAAATGCTTTA	0.423000														38			71		0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054788	29054788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29054788G>A	uc003nlx.3	-	0	303	c.238C>T	c.(238-240)Cat>Tat	p.H80Y		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						ACCAACATATGAGGGACTGTA	0.448000														81			16		0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35900518	35900518	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:35900518G>A	uc002hoa.3	-	15	3413	c.3330C>T	c.(3328-3330)atC>atT	p.I1110I	SYNRG_uc010wde.2_Silent_p.I1032I|SYNRG_uc010wdf.2_Silent_p.I1032I|SYNRG_uc002hoc.3_Silent_p.I1031I|SYNRG_uc002hoe.3_Silent_p.I1032I|SYNRG_uc002hod.3_Silent_p.I987I|SYNRG_uc010wdg.2_Silent_p.I904I|SYNRG_uc002hob.3_Silent_p.I1110I	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	1110					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACTTGTCTCGGATGACGGGCA	0.527000														89			63		0	0	1	0	0
CCNK	8812	broad.mit.edu	37	14	99961966	99961966	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:99961966G>A	uc001ygi.4	+	4	541	c.411_splice	c.e4+1	p.K137_splice		NM_001099402	NP_001092872	O75909	CCNK_HUMAN	Homo sapiens cyclin K (CCNK), mRNA.	137					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ATGACCCAAAGGTAAGAATGA	0.383000														137			33		0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88703133	88703133	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:88703133C>T	uc001kea.3	-	5	1535	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K	MMRN2_uc010qmn.2_Missense_Mutation_p.E113K|MMRN2_uc009xtb.2_Missense_Mutation_p.E427K	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	470						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						AGGTTGAGCTCCAGGAGCTGC	0.582000														31			15		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35806880	35806880	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:35806880G>A	uc003jjo.3	+	34	5193	c.5082G>A	c.(5080-5082)agG>agA	p.R1694R	SPEF2_uc003jjp.1_Silent_p.R1180R|SPEF2_uc003jjr.3_Silent_p.R749R	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1694					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGAAGAAAGGAAATTAAAAG	0.408000														11			18		0	0	1	0	0
WDR85	92715	broad.mit.edu	37	9	140450030	140450030	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:140450030C>T	uc004cnk.1	-	8	1178	c.1020G>A	c.(1018-1020)tgG>tgA	p.W340*	WDR85_uc004cni.3_Non-coding_Transcript|WDR85_uc004cnj.1_Nonsense_Mutation_p.W69*|WDR85_uc004cnm.1_Nonsense_Mutation_p.W101*	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN	Homo sapiens WD repeat domain 85 (WDR85), mRNA.	340					peptidyl-diphthamide biosynthetic process from peptidyl-histidine					breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	8	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)		GCAGCCAGGACCAGTCGGCTC	0.602000														26			18		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34100795	34100795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:34100795G>A	uc003oir.4	-	0	842	c.479C>T	c.(478-480)tCg>tTg	p.S160L	GRM4_uc011dsn.2_Missense_Mutation_p.S160L|GRM4_uc010jvh.3_Missense_Mutation_p.S160L|GRM4_uc010jvi.3_5'UTR|GRM4_uc010jvk.1_Missense_Mutation_p.S79L	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	160					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GATGGAGACCGAGCTCCCTGA	0.617000														34			10		0	0	1	0	0
RNF208	727800	broad.mit.edu	37	9	140115071	140115071	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:140115071G>A	uc004clz.2	-	0	705	c.594C>T	c.(592-594)gaC>gaT	p.D198D		NM_031297	NP_112587	Q9H0X6	RN208_HUMAN	Homo sapiens ring finger protein 208 (RNF208), mRNA.	198							zinc ion binding			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCAGGCCGTAGTCGGTGAAGA	0.662000														14			11		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31332834	31332834	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:31332834G>A	uc002ebr.3	+	15	1989	c.1891G>A	c.(1891-1893)Gaa>Aaa	p.E631K	ITGAM_uc002ebq.3_Missense_Mutation_p.E630K|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.3_Missense_Mutation_p.E36K|ITGAM_uc002ebs.1_Missense_Mutation_p.E36K	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	630					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CAATCCCAGGGAAGTGGCAAG	0.502000														87			133		0	0	1	0	0
PEX5	5830	broad.mit.edu	37	12	7362672	7362672	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:7362672C>T	uc009zfu.2	+	16	2353	c.1773C>T	c.(1771-1773)ggC>ggT	p.G591G	PEX5_uc001qsw.3_Silent_p.G591G|PEX5_uc010sgc.2_Silent_p.G606G|PEX5_uc001qsu.3_Silent_p.G554G|PEX5_uc010sgd.2_Silent_p.G612G|PEX5_uc001qsv.3_Silent_p.G583G	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA.	591					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						AAAGCCGGGGCCCCCGGGGTG	0.567000														41			7		0	0	1	0	0
SEC11C	90701	broad.mit.edu	37	18	56819826	56819826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:56819826G>A	uc002lht.3	+	2	312	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	SEC11C_uc010dpo.1_Missense_Mutation_p.E86K|SEC11C_uc010xej.1_Missense_Mutation_p.E86K	NM_033280	NP_150596	Q9BY50	SC11C_HUMAN	Homo sapiens SEC11 homolog C (S. cerevisiae) (SEC11C), mRNA.	86					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				AAATTTCCGGGAAGACCCAAT	0.438000														67			40		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542485	179542485	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179542485A>G	uc021vsy.1	-	142	30647	c.30422T>C	c.(30421-30423)cTa>cCa	p.L10141P	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L6802P|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11068	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.W10140C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTCAGGTAGAACTTCCTC	0.423000														49			53		0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138712877	138712877	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:138712877G>A	uc004cgr.4	-	10	3630	c.3630C>T	c.(3628-3630)tcC>tcT	p.S1210S	CAMSAP1_uc004cgq.4_Silent_p.S1100S|CAMSAP1_uc010nbg.3_Silent_p.S932S	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	1210	Poly-Ser.					cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTGAGGAGCTGGACCCCACCT	0.567000														6			50		0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64367874	64367874	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:64367874G>A	uc001oam.1	+	7	2068	c.1321G>A	c.(1321-1323)Ggg>Agg	p.G441R	SLC22A12_uc001oal.1_Missense_Mutation_p.G220R|SLC22A12_uc009yps.1_Missense_Mutation_p.G407R|SLC22A12_uc001oan.1_Missense_Mutation_p.G333R|SLC22A12_uc009ypt.3_Missense_Mutation_p.G259R	NM_144585	NP_700357	Q96S37	S22AC_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA.	441					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GGCCGTGCTGGGGCTGGGCGG	0.637000														25			10		0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54656727	54656727	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:54656727C>T	uc002qdj.2	+	15	2352	c.2028C>T	c.(2026-2028)taC>taT	p.Y676Y	CNOT3_uc010yel.2_Silent_p.Y676Y|CNOT3_uc002qdi.3_Missense_Mutation_p.T588I|CNOT3_uc002qdk.2_Silent_p.Y676Y|CNOT3_uc010ere.2_Non-coding_Transcript	NM_014516	NP_055331	O75175	CNOT3_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA.	676					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCATCTTCTACTATCTGGAGG	0.687000														119			28		0	0	1	0	0
TTC39A	22996	broad.mit.edu	37	1	51756260	51756260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:51756260C>T	uc001csl.3	-	14	1517	c.1412G>A	c.(1411-1413)gGg>gAg	p.G471E	TTC39A_uc001csk.3_Missense_Mutation_p.G436E|TTC39A_uc010ond.2_Missense_Mutation_p.G408E|TTC39A_uc010one.2_Missense_Mutation_p.G435E|TTC39A_uc010onf.2_Missense_Mutation_p.G439E|TTC39A_uc001csj.3_Missense_Mutation_p.G72E	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA.	471							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						CGGCTGCTTCCCAATCACGGC	0.537000														10			3		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55638936	55638936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:55638936C>T	uc003pcq.3	-	3	1650	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	BMP5_uc011dxf.2_Missense_Mutation_p.R313Q	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	313					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.R313*(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCTCACGGATCGAAGAAGTAC	0.453000														74			18		0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33638555	33638555	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:33638555A>G	uc002nui.3	+	3	559	c.481A>G	c.(481-483)Att>Gtt	p.I161V		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	161										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TTCCAGAGTCATTGCCGCATC	0.542000														27			14		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62289243	62289243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:62289243G>A	uc003xuh.3	+	2	859	c.535G>A	c.(535-537)Ggc>Agc	p.G179S	CLVS1_uc003xug.2_3'UTR|CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	179	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TCAGATAAATGGCTTCATTTT	0.443000														43			27		0	0	1	0	0
NUFIP1	26747	broad.mit.edu	37	13	45517738	45517738	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:45517738G>A	uc001uzp.2	-	8	1252	c.1210C>T	c.(1210-1212)Cca>Tca	p.P404S		NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA.	404					RNA processing|box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|RNA binding|identical protein binding|protein binding, bridging|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TCTTGACTTGGACTCTTAGGA	0.373000														48			29		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105893416	105893416	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:105893416C>T	uc001kxw.3	-	34	4674	c.4558G>A	c.(4558-4560)Gat>Aat	p.D1520N	WDR96_uc009xxq.3_Missense_Mutation_p.D799N	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1520										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATCTGAATATCCCAAGCCTTC	0.328000														24			7		0	0	1	0	0
LOC440041	440041	broad.mit.edu	37	11	55063069	55063069	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55063069C>T	uc021qjb.1	-	2		c.569G>A			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		GCCCTCCTTTCACAGCCTCTC	0.408000														20			5		0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101349370	101349370	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:101349370C>T	uc010txj.1	-	0	1815	c.1756G>A	c.(1756-1758)Gat>Aat	p.D586N	MIR127_uc001yig.3_Non-coding_Transcript|MIR432_uc021sce.1_5'Flank|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	586										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCAGAAAGATCATCGGATCCG	0.562000														49			17		0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92690348	92690348	+	Silent	SNP	C	T	T	rs78550975	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:92690348C>T	uc002bqx.2	+	7	1848	c.1647C>T	c.(1645-1647)atC>atT	p.I549I	SLCO3A1_uc002bqy.2_Silent_p.I549I|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.I491I	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	549					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	p.I549I(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GCAGCCTGATCGGTGCCATGG	0.582000														59			41		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137696875	137696876	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:137696875_137696876GG>AA	uc004cfe.3	+	39	3551_3552	c.3169_3170GG>AA	c.(3169-3171)ggt>AAt	p.G1057N		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1057	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGATTACGTGGTTTCCCTGGG	0.624000														1			25		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42034999	42034999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:42034999C>T	uc010ucy.2	+	14	5022	c.4841C>T	c.(4840-4842)cCt>cTt	p.P1614L	MGA_uc010ucz.2_Intron|MGA_uc010uda.1_Missense_Mutation_p.P230L	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1614	Thr-rich.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GCTGTGACACCTATGACTGCT	0.463000														77			14		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103136991	103136991	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:103136991C>G	uc022ajr.1	-	55	9335	c.9175G>C	c.(9175-9177)Gtg>Ctg	p.V3059L	RELN_uc022ajq.1_Missense_Mutation_p.V3059L|RELN_uc010liz.3_Missense_Mutation_p.V3059L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3059					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)		AAAGTGTCCACCAATTGGCTG	0.423000														66			12		0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23083400	23083400	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:23083400G>A	uc002dll.3	-	14	2454	c.2454C>T	c.(2452-2454)tcC>tcT	p.S818S	USP31_uc002dlk.3_Silent_p.S90S|USP31_uc010vca.2_Silent_p.S121S|USP31_uc010bxm.3_Silent_p.S106S	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	818	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TCATCTCCACGGACTCAGAGA	0.577000														88			42		0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209961873	209961873	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:209961873G>A	uc001hhq.2	-	8	1600	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	IRF6_uc010psm.2_Silent_p.I337I	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	432					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GCTGAGCAACGATGTTATCCT	0.557000										HNSCC(57;0.16)				101			27		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17696571	17696571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:17696571G>A	uc002rcl.1	-	0	3136	c.3112C>T	c.(3112-3114)Cct>Tct	p.P1038S	RAD51AP2_uc010exn.1_Missense_Mutation_p.P1029S	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	1038										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCCATATTAGGACCTGCTATA	0.363000														55			12		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152404847	152404847	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:152404847C>T	uc021vrb.1	-	101	15058	c.15029G>A	c.(15028-15030)cGg>cAg	p.R5010Q	NEB_uc002txr.3_Missense_Mutation_p.R1476Q|NEB_uc002txu.3_Missense_Mutation_p.R6711Q|NEB_uc021vrc.1_Missense_Mutation_p.R6711Q|NEB_uc010fnx.3_Missense_Mutation_p.R4998Q|NEB_uc021vrd.1_Missense_Mutation_p.R5010Q	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5010					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTTGACTCTCCGGACGTGGAC	0.423000														44			12		0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23346314	23346314	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:23346314C>T	uc001whd.3	+	6	2273	c.1720C>T	c.(1720-1722)Cgg>Tgg	p.R574W	LRP10_uc001whe.3_Intron	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.	574	Arg-rich.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CACCCCGGCTCGGGCCTCTGA	0.706000														27			21		0	0	1	0	0
SGSM3	27352	broad.mit.edu	37	22	40803046	40803047	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:40803046_40803047GG>AA	uc003ayu.1	+	10	1420_1421	c.1211_1212GG>AA	c.(1210-1212)agg>aAA	p.R404K	SGSM3_uc011aos.1_Missense_Mutation_p.R337K|SGSM3_uc011aot.1_Missense_Mutation_p.R341K	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA.	404					Rap protein signal transduction|cell cycle arrest	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						ACCCAGCGGAGGAAGTCCACCA	0.629000														1			4		0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15115175	15115175	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:15115175A>T	uc001int.2	+	8	1158	c.904A>T	c.(904-906)Atc>Ttc	p.I302F	ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Missense_Mutation_p.I249F	NM_018324	NP_060794	Q9NV23	SAST_HUMAN	Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 1, mRNA.	249					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CGAGAAATTAATCAAGAACTA	0.328000														40			15		0	0	1	0	0
C11orf16	56673	broad.mit.edu	37	11	8942929	8942930	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:8942929_8942930CC>TT	uc001mhb.4	-	5	1461_1462	c.1337_1338GG>AA	c.(1336-1338)ggg>gAA	p.G446E	C11orf16_uc001mhc.4_Intron	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	Homo sapiens chromosome 11 open reading frame 16 (C11orf16), mRNA.	446								p.G446E(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GTTCAGCTTCCCCTGGCGGGGT	0.520000														79			23		0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32462053	32462053	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:32462053C>T	uc010dmn.1	+	19	2103	c.2102C>T	c.(2101-2103)cCc>cTc	p.P701L	DTNA_uc002kxw.2_Missense_Mutation_p.P644L|DTNA_uc002kxz.2_Missense_Mutation_p.P648L|DTNA_uc002kxy.2_Missense_Mutation_p.P641L|DTNA_uc010dmj.3_Missense_Mutation_p.P641L|DTNA_uc010xby.1_Missense_Mutation_p.P391L|DTNA_uc002kye.3_Missense_Mutation_p.P349L|DTNA_uc010xca.2_Missense_Mutation_p.P353L|DTNA_uc010xbz.2_Missense_Mutation_p.P410L	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.	701					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GATGCAGATCCCTATGTGCAG	0.433000														10			28		0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33745625	33745625	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:33745625G>A	uc002rox.3	+	6	869	c.242G>A	c.(241-243)tGg>tAg	p.W81*	RASGRP3_uc010ync.2_Nonsense_Mutation_p.W81*|RASGRP3_uc002roy.3_Nonsense_Mutation_p.W81*	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA.	81	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TTCAGGTACTGGATTCTGAAG	0.378000														336			103		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143096351	143096351	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:143096351C>T	uc003wcz.3	-	5	1078	c.991_splice	c.e5+1	p.G331_splice		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	331						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CTGGACTCACCTGTGCATGCC	0.612000														45			18		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581333	82581333	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:82581333G>A	uc003uhx.2	-	4	9225	c.8936C>T	c.(8935-8937)tCa>tTa	p.S2979L	PCLO_uc003uhv.2_Missense_Mutation_p.S2979L|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2910					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						ATATGGCCCTGATCGATCATA	0.428000														183			34		0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60637179	60637179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:60637179C>T	uc001nqd.3	+	2	508	c.488C>T	c.(487-489)tCc>tTc	p.S163F	ZP1_uc001nqe.3_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	163					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CAAACCCTTTCCTTCCTCCCC	0.612000														31			13		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032478	21032478	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:21032478C>T	uc010sil.2	+	8	1309	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	SLCO1B3_uc001rek.3_Missense_Mutation_p.S415L|SLCO1B3_uc001rel.3_Missense_Mutation_p.S415L|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	415					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.S415S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTTCTTACTTCGATGATATCC	0.343000														41			12		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762727	130762727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:130762727C>T	uc003qcb.3	+	1	3538	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F	TMEM200A_uc003qca.3_Missense_Mutation_p.S387F|TMEM200A_uc010kfh.3_Missense_Mutation_p.S387F|TMEM200A_uc010kfi.3_Missense_Mutation_p.S387F|TMEM200A_uc021zfg.1_Missense_Mutation_p.S387F	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	387						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TCCAATACATCCTTGCATTTG	0.527000														21			15		0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43351289	43351289	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:43351289A>G	uc001zqq.3	-	8	1153	c.1087T>C	c.(1087-1089)Tat>Cat	p.Y363H	UBR1_uc010udk.1_Missense_Mutation_p.Y363H	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	363					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TTACCTTTATAAAGCTTTGCA	0.378000														21			20		0	0	1	0	0
CRSP8P	441089	broad.mit.edu	37	5	79647566	79647566	+	RNA	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:79647566C>T	uc010jaj.1	-	0		c.220G>A								Homo sapiens mediator complex subunit 27 pseudogene (CRSP8P), non-coding RNA.																		TCAGACGTTCCAGCTCATTGA	0.537000														39			46		0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606755	21606755	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:21606755C>T	uc002npw.3	+	3	1413	c.1294C>T	c.(1294-1296)Ccc>Tcc	p.P432S	ZNF493_uc002npx.3_Missense_Mutation_p.P304S|ZNF493_uc002npy.3_Missense_Mutation_p.P304S|ZNF493_uc021urq.1_Missense_Mutation_p.P304S	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H431L(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TGGAGAGAAACCCTACAAATG	0.348000														7			10		0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112045922	112045922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:112045922C>T	uc001ebh.4	-	0	822	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Missense_Mutation_p.E19K	NM_000677	NP_000668	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA.	19					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	ATGAAAATTTCCATGGTGATG	0.532000														7			9		0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895469	42895469	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:42895469G>A	uc003gwt.3	+	0	187	c.186G>A	c.(184-186)caG>caA	p.Q62Q		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	62					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						ATGGACAGCAGAATGGCCACA	0.483000														13			86		0	0	1	0	0
PACS2	23241	broad.mit.edu	37	14	105836195	105836195	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:105836195G>A	uc001yqu.3	+	7	1263	c.759G>A	c.(757-759)caG>caA	p.Q253Q	PACS2_uc001yqs.2_Silent_p.Q178Q|PACS2_uc001yqt.3_Silent_p.Q253Q|PACS2_uc001yqv.3_Silent_p.Q253Q	NM_001100913	NP_001094383	Q86VP3	PACS2_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 2 (PACS2), transcript variant 1, mRNA.	253					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		ACTTCAAGCAGAAAGTGGTAG	0.672000														13			3		0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112005938	112005938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:112005938G>A	uc004bdz.1	-	14	1664	c.1369C>T	c.(1369-1371)Ccc>Tcc	p.P457S	EPB41L4B_uc004bea.3_Missense_Mutation_p.P457S	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	457						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCTGGCTGGGATGGATATTA	0.433000														9			30		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135738474	135738474	+	Silent	SNP	G	A	A	rs149473090		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:135738474G>A	uc002tue.1	-	8	3868	c.3837C>T	c.(3835-3837)atC>atT	p.I1279I	YSK4_uc002tuf.1_Silent_p.I461I|YSK4_uc010fnc.1_Silent_p.I413I|YSK4_uc010fnd.1_Silent_p.I1166I|YSK4_uc010zbg.1_Silent_p.I411I|YSK4_uc021vpz.1_Silent_p.I140I|YSK4_uc002tuh.4_Silent_p.I1007I|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.	1279	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)		GGTGTGCTCCGATGTAAAACA	0.507000														24			9		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	404985	404985	+	Missense_Mutation	SNP	G	A	A	rs143674187		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:404985G>A	uc003bot.3	+	13	2146	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K	CHL1_uc003bou.3_Missense_Mutation_p.E486K|CHL1_uc003bow.2_Missense_Mutation_p.E486K|CHL1_uc011asi.2_Missense_Mutation_p.E502K	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	486	Ig-like C2-type 5.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAGAACCACCGAAGAAGATGC	0.413000														35			19		0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82380646	82380646	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:82380646G>A	uc003hmi.1	-	1	161	c.17C>T	c.(16-18)cCc>cTc	p.P6L	RASGEF1B_uc003hmj.1_Missense_Mutation_p.P6L|RASGEF1B_uc010ijq.1_Missense_Mutation_p.P6L|RASGEF1B_uc003hmk.3_Missense_Mutation_p.P6L	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	Homo sapiens RasGEF domain family, member 1B (RASGEF1B), mRNA.	6					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TGCTGAAAAGGGAGGAGTCTG	0.393000														47			29		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52430761	52430761	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:52430761G>A	uc011bef.2	+	71	11819	c.11558G>A	c.(11557-11559)tGc>tAc	p.C3853Y	DNAH1_uc003ddv.3_Missense_Mutation_p.C711Y	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3918	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGCGCATCTGCATCAGCCAG	0.582000														139			42		0	0	1	0	0
TMEM41B	440026	broad.mit.edu	37	11	9305015	9305015	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:9305015G>A	uc001mhm.3	-	6	1159	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L	TMEM41B_uc001mhn.2_Silent_p.L278L	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN	Homo sapiens transmembrane protein 41B (TMEM41B), transcript variant 1, mRNA.	278						integral to membrane				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		ATGGCTGGCAGAATAGAAAGA	0.363000														18			12		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43411772	43411772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:43411772C>T	uc002ovj.1	-	3	1040	c.941G>A	c.(940-942)cGa>cAa	p.R314Q	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.R154Q|PSG4_uc002ovg.1_Missense_Mutation_p.R314Q	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	315	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GCCACCATATCGGTCCCGTAT	0.498000														132			37		0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42294575	42294575	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:42294575G>A	uc003xpe.3	-	7	1824	c.1455C>T	c.(1453-1455)ctC>ctT	p.L485L	SLC20A2_uc010lxl.3_Silent_p.L485L|SLC20A2_uc010lxm.3_Silent_p.L485L|SLC20A2_uc011lcu.2_Silent_p.L287L	NM_006749	NP_006740	Q08357	S20A2_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 2 (SLC20A2), mRNA.	485					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AATGGAACAGGAGGTGAACCT	0.597000														38			8		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573497	140573497	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140573497C>T	uc003lix.3	+	0	1546	c.1372C>T	c.(1372-1374)Ctg>Ttg	p.L458L		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	458	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.L458M(2)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCTACACCCTGTTCGTCCG	0.617000														76			78		0	0	1	0	0
PAOX	196743	broad.mit.edu	37	10	135195059	135195059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:135195059C>T	uc001lmv.3	+	2	844	c.764C>T	c.(763-765)tCc>tTc	p.S255F	PAOX_uc001lmx.3_Missense_Mutation_p.S255F|PAOX_uc001lmy.3_Missense_Mutation_p.S255F|PAOX_uc001lmz.3_Non-coding_Transcript|PAOX_uc001lna.3_Non-coding_Transcript|PAOX_uc001lnb.3_Non-coding_Transcript|PAOX_uc001lnc.3_Non-coding_Transcript|PAOX_uc001lmw.3_Non-coding_Transcript	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	Homo sapiens polyamine oxidase (exo-N4-amino) (PAOX), transcript variant 1, mRNA.	393					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		TGGAACGGGTCCTTCCAGGAG	0.587000														37			13		0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186968109	186968109	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:186968109C>T	uc003frh.2	-	7	1410	c.1020G>A	c.(1018-1020)gtG>gtA	p.V340V	MASP1_uc003fri.3_Silent_p.V340V|MASP1_uc003frj.3_Silent_p.V309V|MASP1_uc003frk.2_Silent_p.V340V|MASP1_uc011bse.2_Silent_p.V314V	NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	340	Sushi 1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TGTCCATCTCCACATTATCCT	0.473000														89			48		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184762	130184762	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:130184762C>T	uc009zyl.1	-	1	889	c.561G>A	c.(559-561)ggG>ggA	p.G187G		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	187						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCCCCAGGTCCCCCTGCAGCC	0.706000														24			16		0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248128867	248128867	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248128867C>T	uc010pzd.2	+	0	234	c.234C>T	c.(232-234)ctC>ctT	p.L78L	OR2L13_uc001ids.3_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACTTTCTGCTCAGTCAGCTCT	0.478000														75			94		0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153696180	153696180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:153696180C>T	uc004flm.3	+	20	3829	c.3656C>T	c.(3655-3657)cCg>cTg	p.P1219L		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1219					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGACCCTACCGGCCATGATG	0.692000														1			31		0	0	1	0	0
PRMT8	56341	broad.mit.edu	37	12	3649784	3649784	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:3649784C>T	uc001qmf.3	+	1	455	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S	PRMT8_uc009zed.3_Missense_Mutation_p.P21S|PRMT8_uc009zee.1_Non-coding_Transcript	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA.	30					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GAACAGCCCCCCCTCCCAGCC	0.657000														52			31		0	0	1	0	0
AGFG2	3268	broad.mit.edu	37	7	100159976	100159976	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:100159976G>A	uc003uvf.3	+	6	1108	c.972G>A	c.(970-972)ggG>ggA	p.G324G		NM_006076	NP_006067	O95081	AGFG2_HUMAN	Homo sapiens ArfGAP with FG repeats 2 (AGFG2), mRNA.	324					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGGGACCCGGGGTGCCCGCTG	0.672000														36			41		0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70991893	70991893	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:70991893C>T	uc002asr.3	-	1	289	c.185G>A	c.(184-186)gGc>gAc	p.G62D	UACA_uc010uke.2_Missense_Mutation_p.G62D|UACA_uc002asq.3_Missense_Mutation_p.G49D|UACA_uc010bin.1_Missense_Mutation_p.G48D	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	62						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATCTAGTTTGCCTGGATTGAC	0.398000														93			34		0	0	1	0	0
RND1	27289	broad.mit.edu	37	12	49254910	49254910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49254910C>T	uc001rsn.3	-	3	426	c.323G>A	c.(322-324)aGg>aAg	p.R108K		NM_014470	NP_055285	Q92730	RND1_HUMAN	Homo sapiens Rho family GTPase 1 (RND1), mRNA.	108					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						GATTTCTGTCCTCCACTGAGG	0.537000														63			18		0	0	1	0	0
HADHA	3030	broad.mit.edu	37	2	26461815	26461815	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:26461815G>A	uc002rgy.3	-	2	297	c.167C>T	c.(166-168)tCt>tTt	p.S56F	HADHA_uc010yks.2_Missense_Mutation_p.L14F|HADHA_uc010ykt.1_Missense_Mutation_p.L14F	NM_000182	NP_000173	P40939	ECHA_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA.	56					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TGAATTGGGAGAGTTAATTCG	0.343000														108			15		0	0	1	0	0
RBPMS2	348093	broad.mit.edu	37	15	65040711	65040711	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:65040711G>A	uc002anq.3	-	5	726	c.474C>T	c.(472-474)taC>taT	p.Y158Y		NM_194272	NP_919248	Q6ZRY4	RBPS2_HUMAN	Homo sapiens RNA binding protein with multiple splicing 2 (RBPMS2), mRNA.	158							nucleic acid binding|nucleotide binding			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						TGTACAAAGGGTAGGGGGCCC	0.622000														96			34		0	0	1	0	0
FOXO1	2308	broad.mit.edu	37	13	41134548	41134548	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:41134548G>A	uc001uxl.4	-	1	1465	c.1080C>T	c.(1078-1080)ccC>ccT	p.P360P	FOXO1_uc010acc.1_Silent_p.P175P	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	Homo sapiens forkhead box O1 (FOXO1), mRNA.	360					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		CAGACAGACTGGGTAAAGTAG	0.458000														33			78		0	0	1	0	0
C19orf6	91304	broad.mit.edu	37	19	1011891	1011891	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:1011891G>A	uc002lqr.1	-	6	1088	c.942_splice	c.e6+1	p.F314_splice	FLJ00277_uc002lqp.1_5'Flank|C19orf6_uc021ume.1_5'Flank|C19orf6_uc002lqs.1_Splice_Site_p.F314_splice	NM_001033026	NP_001028198	Q4ZIN3	MBRL_HUMAN	Homo sapiens chromosome 19 open reading frame 6 (C19orf6), transcript variant 1, mRNA.	314						cytoplasm|integral to membrane				breast(1)|cervix(1)|endometrium(3)|lung(2)|ovary(1)|pancreas(2)|skin(1)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)|GBM - Glioblastoma multiforme(1328;0.0252)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCACTCACGAAGATGACCA	0.682000														10			3		0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11007805	11007805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:11007805G>A	uc010oao.2	-	11	2387	c.2387C>T	c.(2386-2388)cCc>cTc	p.P796L	C1orf127_uc001ars.2_Missense_Mutation_p.P631L|C1orf127_uc001arr.2_Missense_Mutation_p.P639L	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	647										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GGCCAAGGTGGGCTCTGTCAG	0.627000														1			20		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10247409	10247409	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10247409G>A	uc002gmk.1	-	15	1692	c.1602C>T	c.(1600-1602)tcC>tcT	p.S534S	MYH13_uc010vvf.1_Silent_p.S209S	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	534	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTTCCAGGATGGAGAAGATGC	0.458000														29			64		0	0	1	0	0
ATP6V1C1	528	broad.mit.edu	37	8	104053027	104053027	+	Splice_Site	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:104053027A>G	uc003ykz.4	+	2	207	c.-38_splice	c.e2-1		ATP6V1C1_uc010mbz.3_Intron|ATP6V1C1_uc003yla.3_Splice_Site|ATP6V1C1_uc011lhl.2_Intron	NM_001695	NP_001686	P21283	VATC1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 (ATP6V1C1), mRNA.						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			ACATTTCAGAATCTCTCTTGA	0.318000														34			10		0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213778	3213778	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:3213778C>T	uc002fvi.2	+	0	240	c.174C>T	c.(172-174)ctC>ctT	p.L58L						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		AAACCAAACTCCACAGCCCCA	0.532000														69			19		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347843	140347843	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140347843G>A	uc003lii.3	+	0	2097	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.E498K	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	498	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACCCAGATGAAAAGGAGAA	0.512000														91			38		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215813426	215813426	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:215813426A>G	uc002vew.3	-	46	7218	c.6998T>C	c.(6997-6999)gTt>gCt	p.V2333A	ABCA12_uc002vev.3_Missense_Mutation_p.V2015A|ABCA12_uc010zjn.2_Missense_Mutation_p.V1260A	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2333	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACAGTAGCCAACTAATGAGCT	0.403000														23			7		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	199573	199573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrGL000192.1:199573C>T	uc010yii.1	-	6	1068	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	HYDIN_uc010yih.1_Non-coding_Transcript			Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.	1981										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCCAGGCTTTCCTCATCCTCC	0.448000														34			22		0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331064	100331064	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:100331064G>A	uc021sxl.1	-	1		c.2089C>T			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		TCTCCCAGAGGGGGCGGCCCC	0.507000														39			27		0	0	1	0	0
IRF5	3663	broad.mit.edu	37	7	128585918	128585918	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:128585918G>A	uc003voh.3	+	2	336	c.215G>A	c.(214-216)gGg>gAg	p.G72E	IRF5_uc010llr.1_Missense_Mutation_p.G72E|IRF5_uc011kot.1_Missense_Mutation_p.G72E|IRF5_uc011kou.1_Missense_Mutation_p.G72E|IRF5_uc010lls.1_Missense_Mutation_p.G72E|IRF5_uc003vog.3_Missense_Mutation_p.G72E|IRF5_uc010llt.3_Missense_Mutation_p.G72E|IRF5_uc003voi.3_Missense_Mutation_p.G72E|IRF5_uc010llu.1_Missense_Mutation_p.G72E|IRF5_uc003vok.2_Missense_Mutation_p.G72E|IRF5_uc003voj.4_Missense_Mutation_p.G72E|IRF5_uc010llv.1_Missense_Mutation_p.G72E|IRF5_uc010llw.1_Missense_Mutation_p.G72E	NM_001098630	NP_116032	Q13568	IRF5_HUMAN	Homo sapiens interferon regulatory factor 5 (IRF5), transcript variant 6, mRNA.	72					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						AAGGAGACAGGGAAATACACC	0.602000														24			12		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38647555	38647555	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:38647555G>A	uc021wvo.1	-	8	1277	c.1225C>T	c.(1225-1227)Ctg>Ttg	p.L409L	SCN5A_uc021wvk.1_Silent_p.L409L|SCN5A_uc021wvl.1_Silent_p.L409L|SCN5A_uc021wvm.1_Silent_p.L409L|SCN5A_uc021wvn.1_Silent_p.L409L|SCN5A_uc021wvp.1_Silent_p.L409L|SCN5A_uc021wvq.1_Silent_p.L409L|SCN5A_uc021wvr.1_Silent_p.L409L|SCN5A_uc021wvs.1_Silent_p.L409L|SCN5A_uc021wvt.1_Silent_p.L409L|SCN5A_uc021wvu.1_Silent_p.L409L|SCN5A_uc021wvv.1_Silent_p.L409L|SCN5A_uc021wvj.1_Silent_p.L275L|SCN5A_uc021wvi.1_Silent_p.L275L|SCN5A_uc021wvw.1_Silent_p.L20L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	409					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ACCACGGCCAGGATCAGGTTC	0.557000														36			16		0	0	1	0	0
GH1	2688	broad.mit.edu	37	17	61995446	61995446	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:61995446G>A	uc002jdj.3	-	2	284	c.222C>T	c.(220-222)ccC>ccT	p.P74P	GH1_uc002jdi.3_Silent_p.P59P|GH1_uc002jdk.3_Intron|GH1_uc002jdl.3_Intron|GH1_uc002jdm.3_Intron|GH1_uc002jdn.3_Silent_p.P74P	NM_000515	NP_000506	P01241	SOMA_HUMAN	Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA.	74					JAK-STAT cascade|glucose transport|growth hormone receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GGGAGGTCTGGGGGTTCTGCA	0.537000														158			98		0	0	1	0	0
C19orf46	163183	broad.mit.edu	37	19	36494527	36494527	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:36494527T>C	uc002ocq.1	-	6	1108	c.1019A>G	c.(1018-1020)gAg>gGg	p.E340G	C19orf46_uc021utd.1_Missense_Mutation_p.E227G|C19orf46_uc002ocr.1_Silent_p.G280G|C19orf46_uc002ocs.1_Missense_Mutation_p.E227G|C19orf46_uc010een.1_Missense_Mutation_p.E255G	NM_001039876	NP_001034965	Q8N205	SYNE4_HUMAN	Homo sapiens chromosome 19 open reading frame 46 (C19orf46), mRNA.	340					establishment of epithelial cell apical/basal polarity	integral to nuclear outer membrane	actin binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGGATTCCCCTCCAGCCTCAC	0.527000														19			7		0	0	1	0	0
C10orf55	414236	broad.mit.edu	37	10	75671464	75671464	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:75671464G>A	uc001jvz.2	-	4	776	c.435C>T	c.(433-435)atC>atT	p.I145I	PLAU_uc010qkw.2_5'UTR|PLAU_uc001jwa.3_Intron|PLAU_uc010qkx.2_Intron|PLAU_uc001jwb.3_Intron|PLAU_uc001jwc.3_Intron|PLAU_uc009xrq.1_Intron	NM_001001791	NP_001001791	Q5SWW7	CJ055_HUMAN	Homo sapiens chromosome 10 open reading frame 55 (C10orf55), mRNA.	145										endometrium(1)	1	Prostate(51;0.0112)					GGGTCCTCCGGATTCCATCCA	0.627000														4			3		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169694922	169694922	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:169694922G>A	uc001ggm.4	-	12	1953	c.1796C>T	c.(1795-1797)tCa>tTa	p.S599L	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	599					actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GCTTCCATCTGATTCAAGGCT	0.388000														56			14		0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141618825	141618825	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141618825G>A	uc003vwu.1	+	0	150	c.150G>A	c.(148-150)gtG>gtA	p.V50V		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TTGTCTGTGTGGATAAACGTC	0.453000														126			34		0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47126745	47126745	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:47126745C>G	uc002iom.3	+	14	2007	c.1673C>G	c.(1672-1674)gCc>gGc	p.A558G	IGF2BP1_uc010dbj.3_Missense_Mutation_p.A419G	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	558	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GACATCCTGGCCCAGGTTAAG	0.582000														26			18		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40730916	40730916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:40730916G>A	uc002xkg.3	-	25	3746	c.3562C>T	c.(3562-3564)Cgt>Tgt	p.R1188C	PTPRT_uc010ggj.3_Missense_Mutation_p.R1207C|PTPRT_uc010ggi.3_Missense_Mutation_p.R391C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1188	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCCGCACACGGGGTGTCACA	0.567000														49			7		0	0	1	0	0
SEMA4F	10505	broad.mit.edu	37	2	74902716	74902716	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:74902716C>T	uc002sna.1	+	10	1548	c.1437C>T	c.(1435-1437)gcC>gcT	p.A479A	SEMA4F_uc010ffq.1_Silent_p.A446A|SEMA4F_uc010ffr.1_Silent_p.A91A|SEMA4F_uc002snb.1_Silent_p.A91A|SEMA4F_uc002snc.1_Silent_p.A324A	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	479	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						AAGATCTGGCCTTATTCCCAG	0.488000														104			15		0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1616239	1616239	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:1616239G>A	uc002wfm.1	-	3	820	c.755C>T	c.(754-756)cCc>cTc	p.P252L	SIRPG_uc002wfn.1_Intron|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	252	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CTCCAAGGTGGGTGGAACTGA	0.557000														29			29		0	0	1	0	0
C2orf43	60526	broad.mit.edu	37	2	20886691	20886691	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:20886691G>A	uc002rec.3	-	6	983	c.950C>T	c.(949-951)tCc>tTc	p.S317F	C2orf43_uc010ykb.1_Missense_Mutation_p.S187F|C2orf43_uc010ykc.1_Missense_Mutation_p.S269F|C2orf43_uc010ykd.1_3'UTR|C2orf43_uc010ykf.1_Missense_Mutation_p.S187F|C2orf43_uc021vem.1_Non-coding_Transcript|C2orf43_uc010yke.1_Missense_Mutation_p.S275F|C2orf43_uc010yka.1_3'UTR	NM_021925	NP_068744	Q9H6V9	CB043_HUMAN	Homo sapiens chromosome 2 open reading frame 43 (C2orf43), mRNA.	317										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCTTTAGGGAGTCAGCAAT	0.438000														16			59		0	0	1	0	0
SLC30A9	10463	broad.mit.edu	37	4	42041011	42041011	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:42041011C>T	uc003gwl.3	+	7	824	c.678C>T	c.(676-678)tcC>tcT	p.S226S	SLC30A9_uc011byx.2_5'UTR	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA.	226					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGCCACGCTCCAGAACAGCAT	0.363000														23			9		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625498	140625498	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140625498C>T	uc003lje.3	+	0	352	c.352C>T	c.(352-354)Cga>Tga	p.R118*		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	118	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAAGTATTTCGAGCTGAACT	0.433000														78			21		0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433164	72433164	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	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														11			14		0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7402425	7402425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:7402425C>T	uc002ghf.4	+	8	1789	c.1403C>T	c.(1402-1404)tCc>tTc	p.S468F	POLR2A_uc002ghe.3_Missense_Mutation_p.S468F	NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	468					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CACAAAATGTCCATGATGGGG	0.532000														125			50		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113569031	113569031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:113569031C>T	uc003ynu.3	-	24	4354	c.4195G>A	c.(4195-4197)Gag>Aag	p.E1399K	CSMD3_uc003yns.3_Missense_Mutation_p.E671K|CSMD3_uc003ynt.3_Missense_Mutation_p.E1359K|CSMD3_uc011lhx.2_Missense_Mutation_p.E1295K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1399	Sushi 7.					integral to membrane|plasma membrane		p.E1399D(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCCCTTCTCTCCCCTGTCATG	0.443000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				54			13		0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85441753	85441753	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:85441753G>A	uc003yct.4	+	1	370	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	RALYL_uc003ycq.4_Missense_Mutation_p.R66Q|RALYL_uc003ycr.4_Missense_Mutation_p.R66Q|RALYL_uc003ycs.4_Missense_Mutation_p.R66Q|RALYL_uc010lzy.3_Missense_Mutation_p.R66Q	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	66	RRM.						RNA binding|identical protein binding|nucleotide binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						ATGAGTGAGCGACATGCAAGA	0.428000														23			14		0	0	1	0	0
CD36	948	broad.mit.edu	37	7	80303448	80303448	+	Silent	SNP	G	A	A	rs141626483	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:80303448G>A	uc003uhc.3	+	16	2088	c.1404G>A	c.(1402-1404)tcG>tcA	p.S468S	CD36_uc011kgv.2_Silent_p.S392S|CD36_uc003uhd.4_Silent_p.S468S|CD36_uc003uhe.4_Silent_p.S468S|CD36_uc003uhf.4_Silent_p.S468S|CD36_uc003uhg.4_Silent_p.S468S|CD36_uc003uhh.4_Silent_p.S468S|CD36_uc022agu.1_Silent_p.S429S|CD36_uc022agv.1_Silent_p.S408S	NM_001127444	NP_001120916	P16671	CD36_HUMAN	Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.	468					cGMP-mediated signaling|cell adhesion|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						CATGCAGATCGAAAACAATAA	0.294000														14			11		0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256583	63256583	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:63256583C>T	uc011cqt.2	-	0	964	c.964G>A	c.(964-966)Gag>Aag	p.E322K		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	322					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TTTTTCCTCTCGAAAGAGGCG	0.617000														27			25		0	0	1	0	0
ZNF813	126017	broad.mit.edu	37	19	53994390	53994390	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53994390G>A	uc021uzf.1	+	0	180	c.84G>A	c.(82-84)gtG>gtA	p.V28V	ZNF813_uc010eqq.1_Intron|ZNF813_uc002qbu.2_Missense_Mutation_p.E302K	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	Homo sapiens zinc finger protein 813 (ZNF813), mRNA.	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TTACAAATGTGAAGAATGTGA	0.388000														52			13		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164104	150164104	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:150164104C>T	uc003whj.3	+	1	648	c.318C>T	c.(316-318)ttC>ttT	p.F106F		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	106						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TCGGCCATTTCACAAGGGAGG	0.507000														44			38		0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67306349	67306349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:67306349C>T	uc001dcx.3	-	8	1353	c.1297G>A	c.(1297-1299)Gaa>Aaa	p.E433K	WDR78_uc001dcy.3_Missense_Mutation_p.E433K|WDR78_uc009waw.3_Missense_Mutation_p.E179K|WDR78_uc009wax.3_Non-coding_Transcript	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	433	Glu-rich.							p.E433D(1)		NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TCTTCAGGTTCAGGTTCTAAA	0.398000														2			32		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178580547	178580547	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:178580547G>A	uc003mjw.3	-	8	1562	c.1460C>T	c.(1459-1461)tCc>tTc	p.S487F	ADAMTS2_uc011dgm.2_Missense_Mutation_p.S487F	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	487	Disintegrin.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTCGTTCATGGAGTAGTGCAG	0.672000														32			6		0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38049839	38049839	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:38049839C>T	uc003ati.3	+	16	2390	c.1652C>T	c.(1651-1653)cCc>cTc	p.P551L	SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc003ath.1_Missense_Mutation_p.P551L|SH3BP1_uc003atj.1_Missense_Mutation_p.P487L|SH3BP1_uc003atk.1_Missense_Mutation_p.P465L|AK097791_uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	551					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					ACCAGGAGTCCCCCGGAGACA	0.662000														15			11		0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88173757	88173757	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:88173757T>C	uc003plv.3	+	12	1781	c.1658T>C	c.(1657-1659)gTt>gCt	p.V553A	SLC35A1_uc003plx.3_Non-coding_Transcript|C6orf165_uc003plw.3_Missense_Mutation_p.V365A|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	553										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		CGCCAGAAAGTTACTCACTCA	0.368000														10			7		0	0	1	0	0
PXN	5829	broad.mit.edu	37	12	120652729	120652729	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:120652729A>T	uc001txv.3	-	7	1361	c.1219T>A	c.(1219-1221)Tcc>Acc	p.S407T	PXN_uc001txu.3_Missense_Mutation_p.S205T|PXN_uc001txx.3_Missense_Mutation_p.S226T|PXN_uc001txt.3_Missense_Mutation_p.S393T|PXN_uc001txy.3_Missense_Mutation_p.S359T|PXN_uc001txz.3_Non-coding_Transcript	NM_001243756	NP_001230685	P49023	PAXI_HUMAN	Homo sapiens paxillin (PXN), transcript variant 3, mRNA.	393	LIM zinc-binding 1.				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGTTCCGGGATCCGATCTCC	0.607000														56			13		0	0	1	0	0
HS3ST3B1	9953	broad.mit.edu	37	17	14248422	14248422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:14248422C>T	uc002goh.1	+	1	962	c.632C>T	c.(631-633)cCt>cTt	p.P211L		NM_006041	NP_006032	Q9Y662	HS3SB_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 (HS3ST3B1), mRNA.	211					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CGGGAGGCCCCTGCGCGCATC	0.617000														11			5		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123518351	123518351	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:123518351C>T	uc010nqy.3	-	29	6494	c.6430G>A	c.(6430-6432)Gac>Aac	p.D2144N	ODZ1_uc011muj.2_Missense_Mutation_p.D2143N|ODZ1_uc004euj.3_Missense_Mutation_p.D2137N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2137					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						ACCCTTATGTCACATATTACC	0.403000														40			43		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28736029	28736029	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:28736029G>A	uc002kwn.3	-	3	710	c.448C>T	c.(448-450)Cca>Tca	p.P150S	DSC1_uc002kwm.3_Missense_Mutation_p.P150S	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	150	Cadherin 1.				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)			TGTGGAAATGGACCCAACGAG	0.408000														25			9		0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40497602	40497602	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:40497602A>G	uc002hzl.1	-	3	587	c.347T>C	c.(346-348)cTa>cCa	p.L116P	STAT3_uc002hzk.1_Missense_Mutation_p.L116P|STAT3_uc002hzm.1_Missense_Mutation_p.L116P|STAT3_uc010wgh.1_Missense_Mutation_p.L18P|STAT3_uc002hzn.1_Missense_Mutation_p.L116P	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	116					JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TGCAGTCTGTAGAAGGCGTGA	0.463000									Hyperimmunoglobulin E Recurrent Infection Syndrome					12			6		0	0	1	0	0
MSX2P1	55545	broad.mit.edu	37	17	56235000	56235000	+	RNA	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:56235000A>G	uc002ivn.3	+	0		c.681A>G								Homo sapiens msh homeobox 2 pseudogene 1 (MSX2P1), non-coding RNA.																		TGGCTGCAAAACCTATGCTAC	0.532000														29			26		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103573682	103573682	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:103573682G>A	uc001dum.3	-	0	371	c.53C>T	c.(52-54)aCc>aTc	p.T18I	COL11A1_uc001dul.3_Missense_Mutation_p.T18I|COL11A1_uc001dun.3_Missense_Mutation_p.T18I|COL11A1_uc009weh.3_Missense_Mutation_p.T18I	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	18					collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.T18T(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGTTGTTACGGTGAAATCCCA	0.532000														2			17		0	0	1	0	0
TJAP1	93643	broad.mit.edu	37	6	43473103	43473103	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:43473103T>C	uc003ovd.2	+	10	1560	c.1184T>C	c.(1183-1185)cTa>cCa	p.L395P	TJAP1_uc003ovf.2_Missense_Mutation_p.L385P|TJAP1_uc003ove.2_Missense_Mutation_p.L385P|TJAP1_uc003ovc.2_Missense_Mutation_p.L385P|TJAP1_uc010jyp.2_Missense_Mutation_p.L354P|TJAP1_uc011dvh.1_Missense_Mutation_p.L385P|TJAP1_uc003ovg.2_Missense_Mutation_p.L261P|TJAP1_uc011dvi.1_Missense_Mutation_p.L395P|TJAP1_uc011dvj.2_Missense_Mutation_p.L195P|TJAP1_uc003ovi.2_Missense_Mutation_p.L261P	NM_001146016	NP_001139489	Q5JTD0	TJAP1_HUMAN	Homo sapiens tight junction associated protein 1 (peripheral) (TJAP1), transcript variant 1, mRNA.	395						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			ccagcacccctaacactcagt	0.677000														13			7		0	0	1	0	0
SPATS2	65244	broad.mit.edu	37	12	49888605	49888605	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49888605C>T	uc001rud.2	+	6	1335	c.346C>T	c.(346-348)Caa>Taa	p.Q116*	SPATS2_uc001rue.2_Non-coding_Transcript|SPATS2_uc009zli.1_Nonsense_Mutation_p.Q116*|SPATS2_uc001ruf.2_Nonsense_Mutation_p.Q116*	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2 (SPATS2), mRNA.	116						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						AGTTTCCATTCAAGAGGAACA	0.423000														14			15		0	0	1	0	0
RFX2	5990	broad.mit.edu	37	19	6040131	6040132	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:6040131_6040132GG>AA	uc002meb.3	-	4	650_651	c.381_382CC>TT	c.(379-384)gtcccc>gtTTcc	p.P128S	RFX2_uc002mec.3_Missense_Mutation_p.P128S|RFX2_uc010xiy.1_Missense_Mutation_p.P83S	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CTGTGGGAGGGGACCGCTGGCG	0.683000														31			22		0	0	1	0	0
PIK3R2	5296	broad.mit.edu	37	19	18273088	18273088	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:18273088G>A	uc002nia.1	+	7	1490	c.978G>A	c.(976-978)caG>caA	p.Q326Q	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	326					T cell costimulation|T cell receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CCTCCCTGCAGGATGCTGAGT	0.637000														10			10		0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120306940	120306940	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:120306940G>A	uc001eid.3	-	1	502	c.414C>T	c.(412-414)tcC>tcT	p.S138S	HMGCS2_uc010oxj.2_Silent_p.S138S|HMGCS2_uc021osx.1_Silent_p.S46S	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	138					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TGACAGCTTTGGACTTGTCAA	0.527000														617			147		0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67223038	67223038	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:67223038C>T	uc001olo.3	+	0	221	c.144C>T	c.(142-144)ctC>ctT	p.L48L	GPR152_uc001olm.3_5'Flank|CABP4_uc001oln.3_Intron	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	48					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	p.L48P(1)		central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGAGGGGGCTCCGAGGGTCTC	0.672000														21			6		0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59857626	59857626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:59857626G>A	uc002izk.2	-	12	2237	c.1931C>T	c.(1930-1932)tCa>tTa	p.S644L	BRIP1_uc002izl.1_Missense_Mutation_p.S25L	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	644					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ACTAACCTGTGAATTTTTAAT	0.343000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks						51			42		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86469047	86469047	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:86469047C>T	uc003uid.3	+	3	3316	c.2217C>T	c.(2215-2217)atC>atT	p.I739I	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Silent_p.I611I|GRM3_uc010leh.3_Silent_p.I331I	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	739					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCATGTTGATCTCTCTTACCT	0.478000														39			25		0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79854508	79854508	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:79854508G>C	uc010jam.3	-	3	1681	c.1331C>G	c.(1330-1332)aCc>aGc	p.T444S	ANKRD34B_uc003kgw.3_Missense_Mutation_p.T444S|ANKRD34B_uc010jan.3_Missense_Mutation_p.T444S|ANKRD34B_uc021yax.1_Missense_Mutation_p.T444S	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.	444						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CCCTTGTCTGGTTTGGGTAAC	0.453000														24			43		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21215695	21215695	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:21215695G>A	uc010bwn.1	-	7	923	c.841C>T	c.(841-843)Ctg>Ttg	p.L281L	ZP2_uc002dii.2_Silent_p.L242L|ZP2_uc010bwo.3_Silent_p.L281L	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	242					binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GTAAGCTTCAGAGACACCATG	0.423000														14			18		0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175473076	175473076	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:175473076C>T	uc003fit.3	+	12	2146	c.2059C>T	c.(2059-2061)Cag>Tag	p.Q687*		NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	687					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)		TGAACTTTTTCAGTCTGATGA	0.488000														22			10		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179721055	179721055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179721055C>T	uc002une.2	-	17	2912	c.2794G>A	c.(2794-2796)Gaa>Aaa	p.E932K	CCDC141_uc002unf.1_Missense_Mutation_p.E411K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	357							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CGAGATTTTTCATTTTTCTTA	0.289000														33			10		0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737718	248737718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248737718C>T	uc001iep.1	-	0	341	c.341G>A	c.(340-342)gGa>gAa	p.G114E		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AACCTCAGCTCCAGCCAGGGT	0.562000														59			33		0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36596519	36596519	+	Silent	SNP	C	T	T	rs141265699		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:36596519C>T	uc021qgb.1	+	0	1665	c.1665C>T	c.(1663-1665)acC>acT	p.T555T	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Silent_p.T555T	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	555					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.D554N(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CAGTGGACACCATTGCAAAGA	0.473000									Familial Hemophagocytic Lymphohistiocytosis					39			12		0	0	1	0	0
DYDC1	143241	broad.mit.edu	37	10	82098173	82098173	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:82098173C>T	uc001kby.1	-	6	719	c.554G>A	c.(553-555)tGa>tAa	p.*185*	DYDC1_uc001kbx.3_Intron|DYDC1_uc009xsr.1_Silent_p.*185*			Q8WWB3	DYDC1_HUMAN	Homo sapiens DPY30 domain containing 1 (DYDC1), mRNA.	0										kidney(1)|large_intestine(3)|skin(1)	5			Colorectal(32;0.229)			Taaaaaaaatcaaaaacaaaa	0.383000														8			8		0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	183975477	183975477	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:183975477C>T	uc003fni.4	+	1	451	c.413C>T	c.(412-414)gCt>gTt	p.A138V	ECE2_uc003fnh.4_Missense_Mutation_p.A138V	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	138	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCTGCTGGCTGGGGAACGA	0.587000														45			21		0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66747280	66747280	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:66747280C>T	uc001stk.3	-	22	3161	c.2920G>A	c.(2920-2922)Gag>Aag	p.E974K	GRIP1_uc001stj.3_Missense_Mutation_p.E741K|GRIP1_uc001stm.3_Missense_Mutation_p.E959K	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	1026					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ACTCCTTTCTCCAGTAAGCCA	0.478000														159			38		0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75622659	75622659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:75622659C>T	uc001dgo.3	+	8	1556	c.892C>T	c.(892-894)Cca>Tca	p.P298S	LHX8_uc001dgq.3_Missense_Mutation_p.P237S	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA.	298						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CACAGCAGTCCCACCCTCCAG	0.502000														180			45		0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5073877	5073878	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:5073877_5073878CC>TT	uc002gau.1	+	35	5851_5852	c.3621_3622CC>TT	c.(3619-3624)ctccgg>ctTTgg	p.R1208W	USP6_uc002gav.1_Missense_Mutation_p.R1208W|USP6_uc010ckz.1_Missense_Mutation_p.R891W	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	1208					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						AAGGGAGGCTCCGGCTGCCCCA	0.530000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									12			37		0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7228681	7228681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:7228681C>T	uc002gga.1	-	7	1485	c.1478G>A	c.(1477-1479)cGa>cAa	p.R493Q	GPS2_uc002ggb.1_Missense_Mutation_p.R493Q|GPS2_uc002ggc.1_5'UTR	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GGCGTTGTTTCGGCGGAGACG	0.642000														55			26		0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71201725	71201725	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:71201725C>T	uc003hff.3	+	0	1055	c.969C>T	c.(967-969)ttC>ttT	p.F323F	CABS1_uc021xoz.1_Silent_p.F323F	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA.	323						flagellum	calcium ion binding	p.F323F(2)|p.D322D(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GATATGACTTCGTTGTCCCTG	0.413000														57			13		0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44099245	44099245	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:44099245G>A	uc002rtq.3	+	6	1185	c.1095G>A	c.(1093-1095)acG>acA	p.T365T	ABCG8_uc010yoa.2_Silent_p.T365T	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	365					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAGCAGAGACGAAGGATCTTG	0.552000														604			121		0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845189	107845189	+	Silent	SNP	C	T	T	rs61757610		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:107845189C>T	uc003hyi.3	-	3	1407	c.702G>A	c.(700-702)gcG>gcA	p.A234A	DKK2_uc003hyj.1_3'UTR	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	234	DKK-type Cys-2.				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ACAGGCCCTTCGCACAGTCGC	0.483000														121			21		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2924882	2924882	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:2924882C>T	uc003bpc.3	+	8	1045	c.706C>T	c.(706-708)Ccg>Tcg	p.P236S	CNTN4_uc003bpb.1_Intron|CNTN4_uc021wsg.1_Missense_Mutation_p.P236S|CNTN4_uc003bpd.1_Missense_Mutation_p.P236S	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	236	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGAAACAGTTCCGACTGCAAA	0.433000														12			11		0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132161550	132161550	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:132161550C>T	uc011mvf.2	-	0	751	c.699G>A	c.(697-699)ttG>ttA	p.L233L	USP26_uc010nrm.1_Silent_p.L233L	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	233					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)					ATTCACATTCCAATTTCTTAT	0.373000														14			14		0	0	1	0	0
SYCE1	93426	broad.mit.edu	37	10	135369312	135369312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:135369312G>A	uc001lno.2	-	9	796	c.691C>T	c.(691-693)Ctc>Ttc	p.L231F	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.L103F|SYCE1_uc009ybn.2_Missense_Mutation_p.L231F|SYCE1_uc001lnn.2_Missense_Mutation_p.L195F	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA.	231					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TGGCTGCGGAGAAAGAGTCCC	0.637000														12			33		0	0	1	0	0
PHACTR2	9749	broad.mit.edu	37	6	144086593	144086593	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:144086593C>G	uc010khi.3	+	5	1089	c.890C>G	c.(889-891)tCt>tGt	p.S297C	PHACTR2_uc003qjq.4_Missense_Mutation_p.S286C|PHACTR2_uc010khh.3_Missense_Mutation_p.S206C|PHACTR2_uc003qjr.4_Missense_Mutation_p.S217C	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	286							actin binding|protein phosphatase inhibitor activity	p.E297K(1)		NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		ACAACAACTTCTGGCACATCC	0.512000														17			18		0	0	1	0	0
PRIM1	5557	broad.mit.edu	37	12	57146080	57146080	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:57146080C>T	uc001smd.3	-	0	67	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_000946	NP_000937	P49642	PRI1_HUMAN	Homo sapiens primase, DNA, polypeptide 1 (49kDa) (PRIM1), mRNA.	1					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding			kidney(1)|lung(6)|prostate(1)	8						CAAACGTCTCCATTGAGCGCG	0.602000														10			4		0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184290679	184290679	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:184290679C>T	uc003foz.3	+	2	1008	c.571C>T	c.(571-573)Ctg>Ttg	p.L191L		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	191						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TGGCTTCTACCTGGCCTTCCA	0.622000														22			22		0	0	1	0	0
ZNF214	7761	broad.mit.edu	37	11	7022597	7022597	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:7022597C>T	uc009yfh.1	-	2	616	c.317G>A	c.(316-318)tGg>tAg	p.W106*	ZNF214_uc001mfa.2_Nonsense_Mutation_p.W106*|ZNF214_uc010ray.1_Nonsense_Mutation_p.W106*	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	Homo sapiens zinc finger protein 214 (ZNF214), mRNA.	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E105Q(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GAGTATTAACCATTCCTGACA	0.423000														299			89		0	0	1	0	0
CA1	759	broad.mit.edu	37	8	86253848	86253848	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:86253848C>T	uc022axc.1	-	0	96	c.17G>A	c.(16-18)tGg>tAg	p.W6*	CA13_uc003ydf.1_Intron|CA1_uc003ydh.3_Nonsense_Mutation_p.W6*|CA1_uc022axd.1_Nonsense_Mutation_p.W6*|CA1_uc010mae.2_Nonsense_Mutation_p.W6*|CA1_uc003ydi.3_Nonsense_Mutation_p.W6*	NM_001164830	NP_001729	P00915	CAH1_HUMAN	Homo sapiens carbonic anhydrase I (CA1), transcript variant 5, mRNA.	6					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	ATCATATCCCCAGTCTGGACT	0.328000														41			9		0	0	1	0	0
CREBZF	58487	broad.mit.edu	37	11	85375667	85375667	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:85375667C>T	uc001pas.2	-	0	516	c.253G>A	c.(253-255)Gag>Aag	p.E85K	CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA.	85					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				ATCGCCTCCTCCTCCATCTCC	0.692000														64			45		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114186110	114186110	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:114186110G>A	uc003ynu.3	-	3	709	c.550C>T	c.(550-552)Cca>Tca	p.P184S	CSMD3_uc003ynt.3_Missense_Mutation_p.P144S|CSMD3_uc011lhx.2_Missense_Mutation_p.P184S|CSMD3_uc010mcx.1_Missense_Mutation_p.P184S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	184	Sushi 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTTTGGGTGGAACACCAGGA	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				23			50		0	0	1	0	0
ANGPTL3	27329	broad.mit.edu	37	1	63069664	63069664	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:63069664A>T	uc001das.1	+	5	1007	c.956A>T	c.(955-957)aAg>aTg	p.K319M	DOCK7_uc001dan.3_Intron|DOCK7_uc001dao.3_Intron|DOCK7_uc001dap.3_Intron|DOCK7_uc001daq.3_Intron|DOCK7_uc009wah.1_Intron	NM_014495	NP_055310	Q9Y5C1	ANGL3_HUMAN	Homo sapiens angiopoietin-like 3 (ANGPTL3), mRNA.	319	Fibrinogen C-terminal.				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						GGCCTAGAGAAGATATACTCC	0.308000														4			24		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35745584	35745584	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:35745584G>A	uc021rid.1	+	25	4952	c.4418G>A	c.(4417-4419)aGa>aAa	p.R1473K	NBEA_uc021ric.1_Missense_Mutation_p.R1470K|NBEA_uc010abi.3_Missense_Mutation_p.R161K	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1473						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CAGTGCCTAAGATTAGGTAAG	0.333000														68			29		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71036349	71036349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:71036349G>A	uc003tvy.3	+	5	1042	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N	WBSCR17_uc003tvz.3_Missense_Mutation_p.D47N	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	348	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TCCTGGCATGGATGTATACGG	0.507000														104			24		0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154516556	154516556	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:154516556C>T	uc009wow.3	+	8	1459	c.621C>T	c.(619-621)acC>acT	p.T207T	TDRD10_uc001ffd.3_Silent_p.T207T|TDRD10_uc001ffe.3_Silent_p.T128T	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	207							RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCCGAAGACCCCGTTTTTCT	0.622000														49			59		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140263249	140263249	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140263249G>A	uc003lif.2	+	0	1396	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.E466K|PCDHAC2_uc003lid.3_Missense_Mutation_p.E466K	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	480	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCGTGAAGGAAAACAATCC	0.672000														96			23		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176640217	176640217	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:176640217C>T	uc001gkz.3	+	3	3267	c.2103C>T	c.(2101-2103)acC>acT	p.T701T	PAPPA2_uc001gky.1_Silent_p.T701T|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	701	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTGCTGCCACCTGGCCTTGGG	0.512000														153			45		0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7143015	7143015	+	Missense_Mutation	SNP	G	A	A	rs145643501		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:7143015G>A	uc002mgd.1	-	11	2463	c.2354C>T	c.(2353-2355)tCg>tTg	p.S785L	INSR_uc002mge.1_Missense_Mutation_p.S773L	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	785	Fibronectin type-III 2.				G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CACGCTGGTCGAGGAAGTGTT	0.602000														130			91		0	0	1	0	0
PPP1R32	220004	broad.mit.edu	37	11	61249313	61249313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:61249313C>T	uc001nru.2	+	1	164	c.32C>T	c.(31-33)tCc>tTc	p.S11F	PPP1R32_uc009ynq.2_Missense_Mutation_p.S11F	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 32 (PPP1R32), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	11																	GGGGTCGTCTCCCCTTATGTG	0.632000														24			23		0	0	1	0	0
HCP5	10866	broad.mit.edu	37	6	31431924	31431924	+	RNA	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:31431924G>A	uc003ntl.3	+	1		c.877G>A			HCP5_uc021yup.1_Non-coding_Transcript			Q6MZN7	HCP5_HUMAN	Homo sapiens HLA complex P5 (non-protein coding) (HCP5), non-coding RNA.						defense response					urinary_tract(1)	1						tgaaggaatgggatatggagc	0.458000														22			10		0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725391	87725391	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:87725391C>T	uc003pli.3	+	1	1042	c.339C>T	c.(337-339)ctC>ctT	p.L113L	HTR1E_uc021zcg.1_Silent_p.L113L	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	113					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCCTCCACCTCTGTGTCATTG	0.552000														27			15		0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	89992999	89992999	+	Silent	SNP	A	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:89992999A>C	uc001tbh.3	-	18	3427	c.3246T>G	c.(3244-3246)ccT>ccG	p.P1082P	ATP2B1_uc001tbg.3_Silent_p.P1082P|ATP2B1_uc009zsr.3_Non-coding_Transcript|ATP2B1_uc001tbf.3_Silent_p.P716P	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	1082					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ATTCCTCCTCAGGTATTTCTT	0.423000														4			40		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11568150	11568150	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:11568150G>A	uc002gne.3	+	15	2664	c.2596_splice	c.e15-1	p.E866_splice	DNAH9_uc010coo.3_Splice_Site_p.E160_splice	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	866	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCTTTTATAGGAAAACCTGGG	0.338000														24			18		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238287747	238287747	+	Missense_Mutation	SNP	G	A	A	rs137923508		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:238287747G>A	uc002vwl.2	-	5	2314	c.2029C>T	c.(2029-2031)Cgt>Tgt	p.R677C	COL6A3_uc002vwo.2_Missense_Mutation_p.R471C|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Missense_Mutation_p.R471C|COL6A3_uc002vwr.3_Missense_Mutation_p.R270C|COL6A3_uc010znk.1_Intron	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	677	Nonhelical region.|VWFA 4.		R -> H (in BM; uncertain pathogenicity; dbSNP:rs35227432).		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)		AAACCAACACGAATATTGTCA	0.413000														24			9		0	0	1	0	0
LRRC2	79442	broad.mit.edu	37	3	46574278	46574278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:46574278C>T	uc010hji.3	-	4	1005	c.612G>A	c.(610-612)atG>atA	p.M204I	LRRC2_uc003cpu.4_Missense_Mutation_p.M204I	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN	Homo sapiens leucine rich repeat containing 2 (LRRC2), mRNA.	204										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		AGGGCAGCTCCATTAATTCTA	0.348000														58			12		0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25835180	25835180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:25835180G>A	uc003gru.4	-	3	1024	c.872C>T	c.(871-873)tCa>tTa	p.S291L		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	291						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AAGCCACAATGAAACAGTAAA	0.368000														6			5		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36242559	36242559	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:36242559G>A	uc021rid.1	+	56	9187	c.8653G>A	c.(8653-8655)Gta>Ata	p.V2885I	NBEA_uc021ric.1_Missense_Mutation_p.V2882I|NBEA_uc010abi.3_Missense_Mutation_p.V1543I|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.V678I|NBEA_uc001uvd.3_Missense_Mutation_p.V463I	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2885						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GGACAATGGGGTAGTAGAGGT	0.468000														17			5		0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290316	132290316	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:132290316C>T	uc002tta.3	+	4	890	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	CCDC74A_uc002ttb.3_Missense_Mutation_p.R214C|CCDC74A_uc021vpq.1_Intron|CCDC74A_uc021vpr.1_Missense_Mutation_p.R277C	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	280										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AGTGCTCATCCGCGAGCTGTG	0.672000														34			40		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131812690	131812690	+	Silent	SNP	G	A	A	rs142352284		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:131812690G>A	uc003ytd.4	-	14	3298	c.3042C>T	c.(3040-3042)atC>atT	p.I1014I	ADCY8_uc010mds.3_Silent_p.I883I	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	1014					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGTCAGCAATGATCTCATTGA	0.428000										HNSCC(32;0.087)				69			28		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1095663	1095663	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:1095663G>A	uc001lsx.1	+	35	6190	c.6163_splice	c.e35-1	p.E2055_splice		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4421						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCCGTCCCCAGGAGAACGAGA	0.657000														11			4		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137988663	137988663	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:137988663G>A	uc002tva.1	+	6	1680	c.1680G>A	c.(1678-1680)agG>agA	p.R560R	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.R450R	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTCCTGAGAGGAAGTCTTGTG	0.483000														14			30		0	0	1	0	0
TM9SF1	10548	broad.mit.edu	37	14	24682688	24682688	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:24682688G>A	uc010tob.1	-	0	670	c.36C>T	c.(34-36)gtC>gtT	p.V12V	TM9SF1_uc010toc.2_Non-coding_Transcript|TM9SF1_uc001wni.3_Silent_p.V29V|TM9SF1_uc001wnj.3_Silent_p.V29V|NEDD8-MDP1_uc001wnk.2_3'UTR|NEDD8-MDP1_uc001wnl.2_3'UTR|NEDD8-MDP1_uc021rrl.1_3'UTR|NEDD8-MDP1_uc001wnm.2_3'UTR|NEDD8-MDP1_uc021rrm.1_3'UTR	NM_006405	NP_006396	O15321	TM9S1_HUMAN	Homo sapiens transmembrane 9 superfamily member 1 (TM9SF1), transcript variant 1, mRNA.	0					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		GCGTCCTCCAGACTTCCGCCT	0.667000														35			14		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57431583	57431583	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:57431583C>T	uc001cyp.3	-	0	106	c.39G>A	c.(37-39)gtG>gtA	p.V13V	C8B_uc010oon.2_5'UTR|C8B_uc010ooo.2_5'UTR	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	13					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				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						GAAATAGCTCCACCGGCGCCC	0.507000														7			39		0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47410319	47410319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:47410319G>A	uc002zhu.1	+	12	1087	c.985G>A	c.(985-987)Ggg>Agg	p.G329R		NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	329	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	TGGCATCGACGGGGTGGACGG	0.652000														21			23		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108489194	108489194	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:108489194G>A	uc010ywk.2	+	19	4816	c.4734G>A	c.(4732-4734)ttG>ttA	p.L1578L	RGPD4_uc002tdu.3_Silent_p.L765L|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1578					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATGCATCTTTGAAAAGTAACA	0.353000														197			70		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42602052	42602052	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:42602052G>A	uc010ggo.3	+	1	185	c.145G>A	c.(145-147)Gag>Aag	p.E49K	TOX2_uc002xle.4_Missense_Mutation_p.E7K|TOX2_uc010ggp.3_Missense_Mutation_p.E7K|TOX2_uc002xlf.4_Missense_Mutation_p.E58K	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CGGAAACCCAGAGCTCCTGTC	0.542000														34			30		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587617	179587617	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179587617C>T	uc021vsy.1	-	72	18502	c.18277G>A	c.(18277-18279)Gga>Aga	p.G6093R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G2754R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7020	Ig-like 42.						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)			ACCGAATCTCCAACTGCTGCC	0.423000														15			4		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40643657	40643657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:40643657G>A	uc001rmg.4	+	7	989	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	LRRK2_uc001rmh.1_5'Flank	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	290					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.E290K(3)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGTATTAAACGAAGTCCATGA	0.388000														22			11		0	0	1	0	0
SPPL3	121665	broad.mit.edu	37	12	121206840	121206840	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:121206840G>A	uc001tzd.3	-	6	1010	c.525C>T	c.(523-525)gtC>gtT	p.V175V	SPPL3_uc001tzc.3_Silent_p.V5V	NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN	Homo sapiens signal peptide peptidase-like 3 (SPPL3), mRNA.	176						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGATCATGGCGACACAGAGGC	0.567000														18			7		0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55599339	55599339	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:55599339A>T	uc010igr.3	+	16	2552	c.2465A>T	c.(2464-2466)aAt>aTt	p.N822I	KIT_uc010igs.3_Missense_Mutation_p.N818I	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	822	Protein kinase.		N -> K (in a germ cell tumor of the testis; somatic mutation).		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.N822K(117)|p.N822Y(13)|p.N822H(4)|p.S821F(2)|p.N822S(2)|p.N822I(2)|p.S821_N822>GY(1)|p.N822T(1)|p.N822N(1)|p.N822D(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATGATTCTAATTATGTGGTT	0.378000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					4			186		0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22563527	22563527	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:22563527G>A	uc002wsm.3	-	1	538	c.353C>T	c.(352-354)cCg>cTg	p.P118L	FOXA2_uc002wsn.3_Missense_Mutation_p.P112L	NM_021784	NP_710141	Q9Y261	FOXA2_HUMAN	Homo sapiens forkhead box A2 (FOXA2), transcript variant 1, mRNA.	112					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|double-stranded DNA binding|protein domain specific 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	p.A117V(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CCCCCCGAGCGGGCTCAGGCT	0.786000														11			8		0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28499606	28499606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:28499606G>A	uc003nll.2	+	2	295	c.293G>A	c.(292-294)gGc>gAc	p.G98D	GPX5_uc003nlm.2_Intron|GPX5_uc003nln.2_Intron	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	98					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	GTTGTGTTGGGCTTTCCCTGC	0.473000														234			56		0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904475	55904475	+	Silent	SNP	G	A	A	rs147104612	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55904475G>A	uc010riz.2	-	0	720	c.720C>T	c.(718-720)acC>acT	p.T240T		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GCGAAGCGCAGGTGGAAAAGG	0.393000														62			16		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103412505	103412505	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:103412505G>A	uc001dum.3	-	41	3530	c.3212C>T	c.(3211-3213)cCa>cTa	p.P1071L	COL11A1_uc001duk.3_Missense_Mutation_p.P255L|COL11A1_uc001dul.3_Missense_Mutation_p.P1059L|COL11A1_uc001dun.3_Missense_Mutation_p.P1020L|COL11A1_uc009weh.3_Missense_Mutation_p.P943L	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1059	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACGTTCTCCTGGTGAGCCCTA	0.463000														6			9		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759225	121759225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:121759225G>A	uc003ksw.1	+	3	999	c.793G>A	c.(793-795)Gat>Aat	p.D265N	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.D265N|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.D312N|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.D265N	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	265					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GACATTTAGTGATCCTCATGG	0.473000														17			18		0	0	1	0	0
SLC10A7	84068	broad.mit.edu	37	4	147179970	147179970	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:147179970G>A	uc010ioz.2	-	10	1121	c.867C>T	c.(865-867)atC>atT	p.I289I	SLC10A7_uc003ikr.2_Silent_p.I289I|SLC10A7_uc010ipa.2_Silent_p.I276I|SLC10A7_uc003iks.2_Non-coding_Transcript	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 7 (SLC10A7), transcript variant 2, mRNA.	289						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					CTGCAAACACGATCTTCAGCA	0.418000														23			29		0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516287	138516287	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:138516287G>A	uc010nbd.1	-	4	741	c.487C>T	c.(487-489)Cag>Tag	p.Q163*		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	163					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		ACCTCGTCCTGGATGTGACTG	0.597000														10			11		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228147231	228147231	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:228147231G>A	uc002vom.2	+	31	2801	c.2639G>A	c.(2638-2640)gGa>gAa	p.G880E	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	880	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGAAATCCGGGAATTTTAGGG	0.433000														19			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179566899	179566899	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179566899C>T	uc021vsy.1	-	104	27000	c.26775G>A	c.(26773-26775)acG>acA	p.T8925T	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.T5586T|TTN_uc010fre.1_Silent_p.T36T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9852	Ig-like 72.						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)			CCTCACCTTTCGTCGTTAGGT	0.458000														18			12		0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7126627	7126627	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:7126627G>A	uc002mgd.1	-	15	3090	c.2981C>T	c.(2980-2982)tCt>tTt	p.S994F	INSR_uc002mge.1_Missense_Mutation_p.S982F	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	994					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGGTTTGAAGAAGCGTAAAG	0.537000														219			125		0	0	1	0	0
ZBTB10	65986	broad.mit.edu	37	8	81412130	81412130	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:81412130C>T	uc003ybx.4	+	1	1972	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	ZBTB10_uc003ybv.4_Silent_p.F166F|ZBTB10_uc003ybw.4_Silent_p.F458F|ZBTB10_uc022awq.1_Silent_p.F458F|ZBTB10_uc010lzt.3_Silent_p.F458F|ZBTB10_uc022awr.1_Non-coding_Transcript	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	Homo sapiens zinc finger and BTB domain containing 10 (ZBTB10), transcript variant 1, mRNA.	458					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			GCCGAAATTTCATTAAAGATG	0.373000														42			23		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113374804	113374804	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:113374804G>A	uc003eam.3	-	6	6136	c.5725C>T	c.(5725-5727)Cga>Tga	p.R1909*	KIAA2018_uc003eal.3_Nonsense_Mutation_p.R1853*	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1909					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						CTTGTGTTTCGACCTTGAATA	0.448000														38			14		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36093595	36093595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:36093595C>T	uc003gsq.2	-	27	4671	c.4333G>A	c.(4333-4335)Gaa>Aaa	p.E1445K		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1445	PH 5.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GATGGTTCTTCTTTGATTTTC	0.353000														36			24		0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162661050	162661050	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:162661050G>A	uc002ubx.4	+	2	406	c.222G>A	c.(220-222)aaG>aaA	p.K74K	SLC4A10_uc010fpa.1_Silent_p.K86K|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Silent_p.K85K|SLC4A10_uc002uby.4_Silent_p.K74K	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	74					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AACACAGAAAGAGAGACAGAG	0.393000														3			7		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49427207	49427207	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49427207G>A	uc001rta.4	-	38	11281	c.11281C>T	c.(11281-11283)Cct>Tct	p.P3761S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	3761	Gln-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						TGTACTCCAGGACCCTGCTGC	0.612000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				9			3		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137255924	137255924	+	Silent	SNP	A	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:137255924A>G	uc003vtt.3	-	18	1945	c.1944T>C	c.(1942-1944)tcT>tcC	p.S648S	DGKI_uc003vtu.3_Silent_p.S348S	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	648					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TGCTCACCAAAGAGGCCATGG	0.378000														15			23		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166201246	166201246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:166201246C>T	uc002udc.3	+	15	3034	c.2744C>T	c.(2743-2745)tCc>tTc	p.S915F	SCN2A_uc002udd.3_Missense_Mutation_p.S915F|SCN2A_uc002ude.3_Missense_Mutation_p.S915F	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	915					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGCAAGATTTCCAATGATTGT	0.488000														89			38		0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155263135	155263135	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155263135C>T	uc001fkb.4	-	9	1309	c.1270_splice	c.e9-1	p.I424_splice	PKLR_uc001fka.4_Splice_Site_p.I393_splice	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	424					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CCCGGGCAATCTGCAGGTGCC	0.597000														57			15		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55146590	55146590	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55146590G>A	uc002qgj.3	+	11	1859	c.1519G>A	c.(1519-1521)Gct>Act	p.A507T	LILRB1_uc010erp.1_Missense_Mutation_p.A122T|LILRB1_uc002qgl.3_Missense_Mutation_p.A507T|LILRB1_uc002qgk.3_Missense_Mutation_p.A508T|LILRB1_uc002qgm.3_Missense_Mutation_p.A508T|LILRB1_uc010erq.3_Missense_Mutation_p.A491T|LILRB1_uc010err.3_Intron	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	507					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCCTGCAGGGGCTGTGGGGCC	0.617000										HNSCC(37;0.09)				20			5		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8862399	8862399	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:8862399C>T	uc002wnb.3	+	31	3557	c.3554C>T	c.(3553-3555)tCc>tTc	p.S1185F	PLCB1_uc002wna.3_3'UTR	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	1185					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GCCCCTCTCTCCCTGTCCTCA	0.493000														142			46		0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205027170	205027170	+	Silent	SNP	G	A	A	rs140395973		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:205027170G>A	uc001hbr.3	+	2	461	c.192G>A	c.(190-192)cgG>cgA	p.R64R	CNTN2_uc001hbq.1_5'UTR|CNTN2_uc009xbi.3_5'Flank|CNTN2_uc001hbs.3_5'Flank	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	64	Ig-like C2-type 1.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	p.A63V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCGCGCCCGGGCCAGCCCTC	0.647000														17			29		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11666907	11666907	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:11666907C>T	uc002gne.3	+	35	7214	c.7146C>T	c.(7144-7146)ttC>ttT	p.F2382F	DNAH9_uc010coo.3_Silent_p.F1676F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2382					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTGGGCTTTCGGCGGAGCAA	0.468000														18			18		0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90660156	90660156	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:90660156G>A	uc011eab.2	-	6	2543	c.1669C>T	c.(1669-1671)Ctt>Ttt	p.L557F	BACH2_uc003pnw.3_Missense_Mutation_p.L557F|BACH2_uc010kch.3_Missense_Mutation_p.L557F	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	557						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TCTGTGGCAAGGAATCTGGCT	0.567000														28			21		0	0	1	0	0
LRRC56	115399	broad.mit.edu	37	11	540746	540747	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:540746_540747GG>AA	uc010qvz.2	+	3	567_568	c.62_63GG>AA	c.(61-63)cgg>cAA	p.R21Q		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.	21								p.R21L(2)		kidney(1)|lung(4)|skin(1)	6		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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCCGGGTGCGGGAGCTGAGCT	0.634000														33			7		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45153916	45153916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:45153916G>A	uc003com.3	-	2	449	c.314C>T	c.(313-315)cCt>cTt	p.P105L	CDCP1_uc003con.3_Missense_Mutation_p.P105L	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	105						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CTCCCCAAAAGGACATGGGCC	0.507000														77			117		0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20874853	20874853	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:20874853G>A	uc010sii.2	+	8	1246	c.891G>A	c.(889-891)aaG>aaA	p.K297K	SLCO1C1_uc010sij.2_Silent_p.K248K|SLCO1C1_uc009zip.3_Silent_p.K131K|SLCO1C1_uc001rei.3_Silent_p.K297K|SLCO1C1_uc010sik.2_Silent_p.K179K	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	297					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					ATTTACCAAAGAGTTTACCAA	0.443000														19			6		0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	10996525	10996525	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:10996525C>T	uc002daj.4	+	7	775	c.642C>T	c.(640-642)tcC>tcT	p.S214S	CIITA_uc002dai.4_Silent_p.S213S|CIITA_uc002dak.4_Silent_p.S164S|CIITA_uc002dag.2_Silent_p.S213S|CIITA_uc002dah.2_Silent_p.S165S|CIITA_uc010bup.1_Silent_p.S213S	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	213					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TGCCTTTCTCCAGTTCCTCGT	0.527000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									43			12		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48372429	48372429	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:48372429G>A	uc001rqu.3	-	41	3027	c.2846C>T	c.(2845-2847)cCt>cTt	p.P949L	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.P880L	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	949	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGGTCCAGCAGGACCTTGGAG	0.662000														43			12		0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25152461	25152461	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:25152461C>T	uc003abd.1	-	4	984	c.567G>A	c.(565-567)gaG>gaA	p.E189E	PIWIL3_uc011ajx.1_Silent_p.E80E|PIWIL3_uc010gut.1_Silent_p.E189E|PIWIL3_uc011ajy.1_Silent_p.E80E	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	189					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	p.E189Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACTTAACCCGCTCTTTTAGTG	0.328000														14			7		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18633627	18633627	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:18633627G>A	uc003sui.3	+	4	680	c.639G>A	c.(637-639)aaG>aaA	p.K213K	HDAC9_uc003sue.3_Silent_p.K210K|HDAC9_uc011jyd.2_Silent_p.K210K|HDAC9_uc003suh.3_Silent_p.K210K|HDAC9_uc003suj.3_Silent_p.K213K|HDAC9_uc011jya.2_Silent_p.K252K|HDAC9_uc003sua.1_Silent_p.K232K|HDAC9_uc003sud.2_Silent_p.K210K|HDAC9_uc011jyc.2_Silent_p.K213K|HDAC9_uc011jyb.2_Silent_p.K210K|HDAC9_uc003suf.2_Silent_p.K241K|HDAC9_uc010kud.2_Silent_p.K213K|HDAC9_uc011jye.2_Silent_p.K182K|HDAC9_uc011jyf.2_Silent_p.K177K|HDAC9_uc010kue.1_5'UTR	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	210	Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor 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|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AAGATGCAAAGGATGATTTCC	0.453000														126			22		0	0	1	0	0
OR10V1	390201	broad.mit.edu	37	11	59481045	59481045	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:59481045G>A	uc001nof.1	-	0	274	c.274C>T	c.(274-276)Cct>Tct	p.P92S		NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily V, member 1 (OR10V1), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						ATGGAAACAGGAGTTTTGCCC	0.458000														38			9		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50699580	50699580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:50699580C>T	uc021vhh.1	-	14	4021	c.3100G>A	c.(3100-3102)Gaa>Aaa	p.E1034K	NRXN1_uc002rxb.4_Missense_Mutation_p.E706K|NRXN1_uc021vhg.1_Missense_Mutation_p.E1074K|NRXN1_uc021vhi.1_Missense_Mutation_p.E1070K|NRXN1_uc021vhj.1_Missense_Mutation_p.E1030K|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	1034	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTGTATGTTTCTTTAGCTACT	0.403000														56			14		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48242338	48242338	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:48242338C>T	uc002eff.1	-	10	2028	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K	ABCC11_uc002efg.1_Missense_Mutation_p.E560K|ABCC11_uc002efh.1_Missense_Mutation_p.E560K|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	560	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TCACTTACCTCCTCCAGGATG	0.607000														26			16		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101565009	101565009	+	Splice_Site	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:101565009T>C	uc002bwr.3	+	16	2387	c.2068_splice	c.e16-1	p.V690_splice	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Splice_Site	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	690	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCAAGTAGGTTGAGTCCGTG	0.562000														74			65		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101504308	101504308	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:101504308C>T	uc010svm.1	+	22	2848	c.2276C>T	c.(2275-2277)cCt>cTt	p.P759L	ANO4_uc001thw.2_Missense_Mutation_p.P724L|ANO4_uc001thx.2_Missense_Mutation_p.P759L|ANO4_uc001thy.2_Missense_Mutation_p.P279L	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	759						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGGAGGAGACCTTTAGCTTCA	0.368000										HNSCC(74;0.22)				3			29		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4513418	4513418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:4513418C>T	uc002mar.1	-	2	512	c.512G>A	c.(511-513)gGg>gAg	p.G171E	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	171	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane		p.G170S(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTGTACGGTCCCTTTGGCCAC	0.632000														49			6		0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165513717	165513717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:165513717G>A	uc001gde.2	+	0	240	c.184G>A	c.(184-186)Gag>Aag	p.E62K	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA.	62						integral to membrane		p.N61K(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GTTCCTGAACGAGAACAGAAT	0.473000														108			115		0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160662507	160662507	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:160662507G>A	uc003qtf.3	-	9	1675	c.1501_splice	c.e9+1	p.G501_splice		NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	501					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		ATTTCTTACCGAAAACCATCA	0.428000														15			15		0	0	1	0	0
CHTF18	63922	broad.mit.edu	37	16	847969	847969	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:847969G>C	uc002ckf.4	+	20	3069	c.3006G>C	c.(3004-3006)ttG>ttC	p.L1002F	CHTF18_uc002cke.4_Missense_Mutation_p.L974F|CHTF18_uc010brf.3_Missense_Mutation_p.L556F|CHTF18_uc002ckg.4_Missense_Mutation_p.L492F	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	Homo sapiens CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) (CHTF18), mRNA.	974					DNA replication|cell cycle	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				TCAGGGACTTGCTCTAGTTCT	0.592000														21			10		0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720261	95720261	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:95720261C>T	uc009xuj.2	-	0	1412	c.893G>A	c.(892-894)cGa>cAa	p.R298Q						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		GGCTGGTCTTCGAGTATCAAC	0.483000														19			18		0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85906113	85906113	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:85906113G>A	uc004eew.2	+	3	885	c.715G>A	c.(715-717)Gga>Aga	p.G239R	DACH2_uc004eex.2_Missense_Mutation_p.G226R|DACH2_uc010nmq.2_Missense_Mutation_p.G105R|DACH2_uc011mra.1_Missense_Mutation_p.G72R|DACH2_uc010nmr.2_Missense_Mutation_p.G20R	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN	Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.Q238L(1)|p.G239E(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CACTCTTCAGGGAAATGGAAG	0.433000														0			7		0	0	1	0	0
P2RY10	27334	broad.mit.edu	37	X	78217036	78217036	+	Splice_Site	SNP	A	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:78217036A>T	uc022bzl.1	+	1	1020	c.1020_splice	c.e1+1	p.*340_splice	P2RY10_uc004ede.3_Nonstop_Mutation_p.*340L|P2RY10_uc004edf.3_Nonstop_Mutation_p.*340L	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	0						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						ATGATTGGCTAAAATTAAGAT	0.413000														3			45		0	0	1	0	0
SLC15A4	121260	broad.mit.edu	37	12	129278818	129278818	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:129278818T>C	uc001uhu.2	-	7	1710	c.1657A>G	c.(1657-1659)Att>Gtt	p.I553V	SLC15A4_uc001uhv.2_Non-coding_Transcript	NM_145648	NP_663623	Q8N697	S15A4_HUMAN	Homo sapiens solute carrier family 15, member 4 (SLC15A4), mRNA.	553					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		TTCACAGAAATAATGAGGAAA	0.468000														101			25		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47030212	47030212	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:47030212G>A	uc003cqp.3	+	1	284	c.105G>A	c.(103-105)aaG>aaA	p.K35K	NBEAL2_uc003cqq.1_Silent_p.K28K	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	35							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GTGCCTTCAAGAAGAGCATCT	0.597000														92			38		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220354280	220354280	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:220354280G>A	uc010fwg.3	+	35	8540	c.8540G>A	c.(8539-8541)cGa>cAa	p.R2847Q		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2847	Pro-rich.				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)		ACCCCTCCACGAAGACACAGG	0.662000														39			12		0	0	1	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319528	21319528	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:21319528G>A	uc021tss.1	+	2	1244	c.874G>A	c.(874-876)Gac>Aac	p.D292N	KCNJ18_uc002gyv.1_Missense_Mutation_p.D292N|KCNJ18_uc021tst.1_Missense_Mutation_p.D292N	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	292						integral to membrane	inward rectifier potassium channel activity	p.D292N(1)									GGAGACGGACGACTTTGAGAT	0.612000														91			13		0	0	1	0	0
C2orf66	401027	broad.mit.edu	37	2	197673972	197673972	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:197673972C>T	uc002utv.3	-	0	1029	c.140G>A	c.(139-141)tGg>tAg	p.W47*		NM_213608	NP_998773	Q6UXQ4	CB066_HUMAN	Homo sapiens chromosome 2 open reading frame 66 (C2orf66), mRNA.	47						extracellular region				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						GAGTGGCTTCCATTTGTCCTC	0.498000														144			57		0	0	1	0	0
C1orf49	84066	broad.mit.edu	37	1	178491468	178491468	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:178491468C>T	uc001glt.2	+	8	707	c.595C>T	c.(595-597)Cct>Tct	p.P199S	C1orf49_uc001glu.1_3'UTR|C1orf49_uc021pfe.1_Intron|C1orf49_uc001glw.2_Intron|C1orf49_uc001glv.1_Intron	NM_032126	NP_115502	Q5T0J7	CA049_HUMAN	Homo sapiens chromosome 1 open reading frame 49 (C1orf49), transcript variant 1, mRNA.	199						microtubule cytoskeleton				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|skin(1)	13						agggaacattccttcagaggc	0.582000														20			7		0	0	1	0	0
PDE7B	27115	broad.mit.edu	37	6	136472298	136472298	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:136472298G>A	uc003qgp.3	+	6	686	c.383_splice	c.e6-1	p.G128_splice	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Splice_Site_p.G180_splice	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	128					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	TTTCCTGCAGGAAACAGCCTG	0.373000														15			10		0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96239872	96239872	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:96239872C>T	uc001vmk.3	-	19	2991	c.2139G>A	c.(2137-2139)ggG>ggA	p.G713G	DZIP1_uc001vmj.3_Silent_p.G189G|DZIP1_uc001vml.3_Silent_p.G694G	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	713					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CTGTGTTCTTCCCGAAGCTGC	0.572000														26			38		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52425239	52425239	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:52425239C>T	uc011bef.2	+	61	10047	c.9786C>T	c.(9784-9786)gaC>gaT	p.D3262D	DNAH1_uc003ddv.3_Silent_p.D120D	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3327	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTGACCGCGACTTCCTGCGCA	0.592000														18			6		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20335551	20335551	+	Missense_Mutation	SNP	G	A	A	rs140222432		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:20335551G>A	uc002dgv.3	-	2	205	c.122C>T	c.(121-123)tCg>tTg	p.S41L	GP2_uc002dgw.3_Missense_Mutation_p.S41L|GP2_uc002dgx.3_Intron|GP2_uc002dgy.3_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	41						anchored to membrane|extracellular region|plasma membrane		p.S41L(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGCCCATACGAACTGGCTTC	0.532000														17			31		0	0	1	0	0
SLMAP	7871	broad.mit.edu	37	3	57847687	57847687	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:57847687T>G	uc003dje.1	+	8	1045	c.840T>G	c.(838-840)agT>agG	p.S280R	SLMAP_uc003djc.1_Missense_Mutation_p.S280R|SLMAP_uc003djd.1_Missense_Mutation_p.S280R|SLMAP_uc003djf.1_Missense_Mutation_p.S280R|SLMAP_uc003djg.1_5'Flank	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	Homo sapiens sarcolemma associated protein (SLMAP), mRNA.	280					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GAAGTCTGAGTAATACTGAAG	0.294000														69			15		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10942740	10942740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:10942740C>T	uc002yip.1	-	12	1069	c.701G>A	c.(700-702)gGa>gAa	p.G234E	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.G216E|TPTE_uc002yir.1_Missense_Mutation_p.G196E|TPTE_uc010gkv.1_Missense_Mutation_p.G96E	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	234	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAGGTCAAATCCATCCCTTGT	0.318000														338			21		0	0	1	0	0
TMCO3	55002	broad.mit.edu	37	13	114164666	114164666	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:114164666C>T	uc001vtu.4	+	6	1513	c.1152C>T	c.(1150-1152)tcC>tcT	p.S384S	TMCO3_uc001vtt.4_Silent_p.S384S	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	Homo sapiens transmembrane and coiled-coil domains 3 (TMCO3), mRNA.	384						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TCTTCATTTCCACGTGTCTGT	0.537000														61			24		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326950	152326950	+	Silent	SNP	T	C	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152326950T>C	uc001ezw.4	-	2	3385	c.3312A>G	c.(3310-3312)caA>caG	p.Q1104Q	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1104	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCCTGTGTTGTCCAAATC	0.507000														194			227		0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5773086	5773086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:5773086C>T	uc001iij.3	+	10	1749	c.1124C>T	c.(1123-1125)gCt>gTt	p.A375V	FAM208B_uc001iik.3_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	375																	AAAAGAACTGCTTCCAGAGCA	0.463000														69			26		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32633270	32633270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:32633270G>A	uc003zrg.1	-	0	2398	c.2308C>T	c.(2308-2310)Cca>Tca	p.P770S	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	770					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGATACACTGGAGCACGAAAA	0.423000														24			16		0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	875404	875404	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:875404G>A	uc001ifs.1	-	9	1087	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	349							RNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CTGCTGCTGGGGGCTGTACAT	0.542000														38			30		0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402747	248402747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248402747G>A	uc010pzh.2	+	0	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L172V(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CAGCTCTCTGGAAATTCATCA	0.433000														132			22		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45987722	45987722	+	Missense_Mutation	SNP	G	A	A	rs140976669		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:45987722G>A	uc002zfe.1	-	1	316	c.250C>T	c.(250-252)Cct>Tct	p.P84S	TSPEAR_uc010gpv.1_Missense_Mutation_p.P16S	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	84	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AATTCTTCAGGGAAGAGGTCA	0.517000														37			35		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470384	10470384	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:10470384C>T	uc003wtc.3	-	3	1453	c.1224G>A	c.(1222-1224)tgG>tgA	p.W408*		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	408					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGGATTCGTCCAGATTTCAT	0.672000														55			33		0	0	1	0	0
IMPAD1	54928	broad.mit.edu	37	8	57890618	57890618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:57890618C>T	uc003xte.4	-	2	923	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K		NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN	Homo sapiens inositol monophosphatase domain containing 1 (IMPAD1), mRNA.	213						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				CCTGTATATTCGGAAAATGGC	0.338000														94			18		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805016	54805016	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:54805016G>A	uc003pck.3	+	4	1363	c.1247G>A	c.(1246-1248)tGg>tAg	p.W416*		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	416										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CCTGGTAATTGGAAAAAGCCA	0.483000														61			38		0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55027196	55027196	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:55027196C>T	uc002xxp.2	+	5	1189	c.964C>T	c.(964-966)Cct>Tct	p.P322S	CASS4_uc002xxq.4_Missense_Mutation_p.P322S|CASS4_uc010zze.1_Missense_Mutation_p.P268S|CASS4_uc002xxr.2_Missense_Mutation_p.P322S|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	322					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AGGCACATTTCCTTTGGATGA	0.448000														53			29		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34042387	34042387	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:34042387G>A	uc001zhi.3	+	56	8369	c.8299G>A	c.(8299-8301)Gta>Ata	p.V2767I	RYR3_uc010bar.3_Missense_Mutation_p.V2767I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2767	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCCTCTTCTGGTACCATATGA	0.522000														17			5		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37729769	37729769	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:37729769C>T	uc004aag.1	+	7	701	c.657C>T	c.(655-657)atC>atT	p.I219I	FRMPD1_uc004aah.1_Silent_p.I219I|FRMPD1_uc011lqm.2_Silent_p.I41I|FRMPD1_uc011lqn.2_Silent_p.I88I	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	219	FERM.					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)		TCCGAAGTATCGAGTACTTTG	0.567000														13			63		0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81060673	81060673	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:81060673C>T	uc001kaf.2	+	16	2565	c.1993C>T	c.(1993-1995)Cag>Tag	p.Q665*	ZMIZ1_uc001kag.2_Nonsense_Mutation_p.Q541*	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	665					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CAACACCATCCAGATCACCGT	0.652000														15			15		0	0	1	0	0
UBE4A	9354	broad.mit.edu	37	11	118267050	118267050	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:118267050C>T	uc001psw.3	+	19	3231	c.3096C>T	c.(3094-3096)aaC>aaT	p.N1032N	UBE4A_uc001psv.3_Silent_p.N1039N	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN	Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.	1032	U-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ATCCCTTTAACCGTAGTCCCC	0.448000														24			15		0	0	1	0	0
S100A7L2	645922	broad.mit.edu	37	1	153410677	153410677	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:153410677G>A	uc010pdx.2	-	1	240	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_001045479	NP_001038944			Homo sapiens S100 calcium binding protein A7-like 2 (S100A7L2), mRNA.											NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCACTGAGGAAGTTGGGGA	0.522000														51			15		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46806750	46806750	+	Silent	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:46806750G>A	uc011dwh.1	+	12	2210	c.2202G>A	c.(2200-2202)ggG>ggA	p.G734G	MEP1A_uc010jzh.1_Silent_p.G706G|MEP1A_uc011dwg.1_Silent_p.G428G|MEP1A_uc011dwi.1_Silent_p.G606G	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	706					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			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)			TCTACACGGGGGAGCGCTGTC	0.592000														207			40		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57373655	57373655	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:57373655G>A	uc001cyo.2	+	8	1381	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	417	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CATGGCTGTGGAAGACATTAT	0.517000														21			12		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660517	77660517	+	Silent	SNP	C	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:77660517C>T	uc011cbx.2	+	4	2144	c.1191C>T	c.(1189-1191)caC>caT	p.H397H	SHROOM3_uc011cbz.1_Silent_p.H221H|SHROOM3_uc003hkf.1_Silent_p.H272H|SHROOM3_uc003hkg.3_Silent_p.H175H	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	397					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CATTTCGGCACCGTGAGCGGC	0.592000														44			11		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:181680102_181680103delAG	uc009wxt.3	+	7	1263_1264	c.1068_1069delAG	c.(1066-1071)aaagagfs	p.K356fs	CACNA1E_uc001gow.3_Frame_Shift_Del_p.K356fs|CACNA1E_uc009wxs.3_Frame_Shift_Del_p.K356fs	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	356					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.510													---	139	---	---	7	---					
ASTL	431705	broad.mit.edu	37	2	96799172	96799172	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:96799172delG	uc010yui.2	-	4	447	c.447delC	c.(445-447)cccfs	p.P149fs		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	149					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						ACCCATACATGGGGATGATGG	0.537													---	43	---	---	32	---					
BRPF1	7862	broad.mit.edu	37	3	9781064	9781071	+	Frame_Shift_Del	DEL	TGTGGATT	-	-	rs150922097		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:9781064_9781071delTGTGGATT	uc003bse.3	+	2	1380_1387	c.981_988delTGTGGATT	c.(979-990)gctgtggattgtfs	p.A327fs	BRPF1_uc003bsf.3_Frame_Shift_Del_p.A327fs|BRPF1_uc003bsg.3_Frame_Shift_Del_p.A327fs|BRPF1_uc011ati.2_Frame_Shift_Del_p.A327fs	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	327					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CCTCTCGTGCTGTGGATTGTGCCCTGTG	0.630													---	100	---	---	18	---					
PBRM1	55193	broad.mit.edu	37	3	52595893	52595900	+	Frame_Shift_Del	DEL	ATCTCACT	-	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:52595893_52595900delATCTCACT	uc003des.2	-	24	4183_4190	c.4171_4178delAGTGAGAT	c.(4171-4179)agtgagatgfs	p.S1391fs	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Frame_Shift_Del_p.S1391fs|PBRM1_uc003der.2_Frame_Shift_Del_p.S1359fs|PBRM1_uc003det.2_Frame_Shift_Del_p.S1406fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.S1406fs|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Frame_Shift_Del_p.S1391fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.S1366fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.S1339fs|PBRM1_uc003dez.1_Frame_Shift_Del_p.S1390fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1391					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CACAGCCCTCATCTCACTGCTGAACAGG	0.510			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								---	62	---	---	117	---					
OCIAD1	54940	broad.mit.edu	37	4	48859263	48859264	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:48859263_48859264insA	uc010igk.3	+	7	812_813	c.596_597insA	c.(595-597)agafs	p.R199fs	OCIAD1_uc003gyo.3_Frame_Shift_Ins_p.R194fs|OCIAD1_uc003gyq.3_Intron|OCIAD1_uc003gyp.3_Intron|OCIAD1_uc003gyr.3_Frame_Shift_Ins_p.R194fs|OCIAD1_uc021xoc.1_Intron	NM_001168254	NP_001161726	Q9NX40	OCAD1_HUMAN	Homo sapiens OCIA domain containing 1 (OCIAD1), transcript variant 6, mRNA.	194						endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						AGTCCTAAAAGAAAAAATATTA	0.317													---	24	---	---	26	---					
TLX3	30012	broad.mit.edu	37	5	170736501	170736517	+	Frame_Shift_Del	DEL	GGGAGGGCCCCCCGGGG	-	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:170736501_170736517delGGGAGGGCCCCCCGGGG	uc003mbf.3	+	0	214_230	c.132_148delGGGAGGGCCCCCCGGGG	c.(130-150)ctgggagggccccccgggggcfs	p.L44fs	AX746723_uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	Homo sapiens T-cell leukemia homeobox 3 (TLX3), mRNA.	44						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCAGCTACCTGGGAGGGCCCCCCGGGGGCCGTCCGGG	0.719			T	BCL11B	T-ALL								---	10	---	---	5	---					
KIAA1009	22832	broad.mit.edu	37	6	84871509	84871509	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:84871509delG	uc010kbp.3	-	19	2729	c.2632delC	c.(2632-2634)cggfs	p.R878fs	KIAA1009_uc003pkj.4_Frame_Shift_Del_p.R802fs|KIAA1009_uc003pki.4_Frame_Shift_Del_p.R264fs	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	878					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCTCTAAGCCGAAGTGCATCT	0.333													---	6	---	---	4	---					
TBL2	26608	broad.mit.edu	37	7	72988772	72988772	+	Frame_Shift_Del	DEL	G	-	-	rs145718922		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:72988772delG	uc003tyh.3	-	1	336	c.202delC	c.(202-204)cggfs	p.R68fs	TBL2_uc011kex.2_Frame_Shift_Del_p.R32fs|TBL2_uc010lbg.3_5'UTR|TBL2_uc003tyi.3_5'UTR|TBL2_uc011key.2_5'UTR	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	Homo sapiens transducin (beta)-like 2 (TBL2), mRNA.	68										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCTCCTTCCGAATCCGCTGA	0.522													---	95	---	---	16	---					
WDR91	29062	broad.mit.edu	37	7	134894380	134894381	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:134894380_134894381insT	uc003vsp.2	-	1	312_313	c.250_251insA	c.(250-252)atcfs	p.I84fs	WDR91_uc010lmr.2_5'Flank|WDR91_uc010lmq.2_5'Flank	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	Homo sapiens WD repeat domain 91 (WDR91), mRNA.	84								p.T83T(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CAGCTTGTGGATTGTGGGTCTG	0.495													---	91	---	---	44	---					
LRRCC1	85444	broad.mit.edu	37	8	86048155	86048155	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:86048155delA	uc003ycw.3	+	13	2494	c.2286delA	c.(2284-2286)ttafs	p.L762fs	LRRCC1_uc022awx.1_Frame_Shift_Del_p.L669fs|LRRCC1_uc010maa.2_Frame_Shift_Del_p.L463fs|LRRCC1_uc003ycy.3_Frame_Shift_Del_p.L742fs	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	762					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TATTTGGTTTAAGGACAGAAA	0.358													---	57	---	---	13	---					
FAM178A	55719	broad.mit.edu	37	10	102684495	102684497	+	In_Frame_Del	DEL	AGG	-	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:102684495_102684497delAGG	uc001krs.3	+	4	2279_2281	c.1737_1739delAGG	c.(1735-1740)gaagga>gaa	p.G580del	FAM178A_uc001krr.1_In_Frame_Del_p.G580del|FAM178A_uc001krt.4_In_Frame_Del_p.G580del|FAM178A_uc001kru.1_In_Frame_Del_p.G515del	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN	Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.	580																	CCCCTTCAGAAGGAGAGAGTTCA	0.458													---	58	---	---	30	---					
OR5B12	390191	broad.mit.edu	37	11	58207292	58207293	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:58207292_58207293insA	uc010rkh.2	-	0	354_355	c.332_333insT	c.(331-333)ttcfs	p.F111fs		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGCCAGGAGGAAACTTTCTGC	0.441													---	47	---	---	46	---					
RASSF8	11228	broad.mit.edu	37	12	26218119	26218119	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:26218119delG	uc001rgx.3	+	2	1018	c.792delG	c.(790-792)cagfs	p.Q264fs	RASSF8_uc001rgy.3_Frame_Shift_Del_p.Q264fs|RASSF8_uc001rgz.3_Frame_Shift_Del_p.Q264fs|RASSF8_uc009zjd.2_Frame_Shift_Del_p.Q264fs|RASSF8_uc009zje.2_Frame_Shift_Del_p.Q264fs	NM_001164748	NP_001158220	Q8NHQ8	RASF8_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 (RASSF8), transcript variant 3, mRNA.	264	Glu-rich.				signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					ATTTGGCACAGATCCGGACTA	0.383													---	98	---	---	61	---					
PLXNC1	10154	broad.mit.edu	37	12	94620392	94620392	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:94620392delG	uc001tdc.3	+	7	2051	c.1802delG	c.(1801-1803)tgcfs	p.C601fs		NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	601					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGCCCAGCATGCGTAGAAACT	0.463													---	4	---	---	68	---					
FAM124A	220108	broad.mit.edu	37	13	51825779	51825780	+	Frame_Shift_Ins	INS	-	C	C	rs79312598		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:51825779_51825780insC	uc001vff.2	+	3	552_553	c.384_385insC	c.(382-387)aagcccfs	p.K128fs	FAM124A_uc001vfe.3_Frame_Shift_Ins_p.K92fs|FAM124A_uc001vfg.2_Frame_Shift_Ins_p.K92fs	NM_145019	NP_659456	Q86V42	F124A_HUMAN	Homo sapiens family with sequence similarity 124A (FAM124A), transcript variant 1, mRNA.	92								p.R127R(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		GGCGGCGGAAGCCCCCCAAGGG	0.703													---	4	---	---	4	---					
ABCA5	23461	broad.mit.edu	37	17	67285330	67285330	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:67285330delA	uc002jif.2	-	12	3108	c.1890delT	c.(1888-1890)cttfs	p.L630fs	ABCA5_uc002jic.2_5'Flank|ABCA5_uc002jid.2_5'Flank|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Frame_Shift_Del_p.L630fs|ABCA5_uc002jih.2_Frame_Shift_Del_p.L630fs|ABCA5_uc010dfe.2_Frame_Shift_Del_p.L630fs	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	630	ABC transporter 1.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TTGGGTTCCCAAGAACAGCAA	0.299													---	62	---	---	21	---					
CSNK1D	1453	broad.mit.edu	37	17	80210425	80210429	+	Frame_Shift_Del	DEL	GTTGA	-	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:80210425_80210429delGTTGA	uc002kej.3	-	4	954_958	c.617_621delTCAAC	c.(616-621)ttcaacfs	p.F206fs	CSNK1D_uc002kei.3_Frame_Shift_Del_p.F206fs|CSNK1D_uc010wvj.2_Frame_Shift_Del_p.F3fs|CSNK1D_uc010dil.3_5'Flank|CSNK1D_uc002keh.3_Frame_Shift_Del_p.F71fs|CSNK1D_uc010dim.1_Frame_Shift_Del_p.F3fs	NM_001893	NP_001884	P48730	KC1D_HUMAN	Homo sapiens casein kinase 1, delta (CSNK1D), transcript variant 1, mRNA.	206	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|circadian regulation of gene expression|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GAGAGCCCAGGTTGAAGTACATTAG	0.512													---	37	---	---	44	---					
PPAN-P2RY11	692312	broad.mit.edu	37	19	10224798	10224798	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:10224798delT	uc002mnc.3	+	1	710	c.509delT	c.(508-510)ctgfs	p.L170fs	PPAN-P2RY11_uc002mna.3_Frame_Shift_Del_p.L590fs|PPAN-P2RY11_uc010xla.2_3'UTR	NM_002566	NP_002557	Q9NQ55	SSF1_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 11 (P2RY11), mRNA.	0	Brix.				RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TTCTCCCACCTGAAGAGGCCG	0.711													---	33	---	---	10	---					
AKT2	208	broad.mit.edu	37	19	40741920	40741920	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:40741920delT	uc002onf.3	-	10	1351	c.1052delA	c.(1051-1053)tacfs	p.Y351fs	AKT2_uc010egs.3_Frame_Shift_Del_p.Y308fs|AKT2_uc010xvj.2_Frame_Shift_Del_p.Y289fs|AKT2_uc010egt.3_Frame_Shift_Del_p.Y289fs|AKT2_uc010egu.2_Frame_Shift_Del_p.Y289fs|AKT2_uc002one.3_Frame_Shift_Del_p.Y247fs	NM_001626	NP_001229957	P31751	AKT2_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA.	351	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GTCCTGGTTGTAGAAGGGCAG	0.637			A		"""ovarian, pancreatic """								---	403	---	---	96	---