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
BTBD11	121551	broad.mit.edu	37	12	107914403	107914403	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:107914403C>T	uc001tmk.1	+	1	1796	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	BTBD11_uc009zut.1_Silent_p.I425I|BTBD11_uc001tmj.3_Silent_p.I425I	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	425						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TAGGCAGCATCGCCGAATTGA	0.557000														7			42		0	0	0.008740	0	0
OR52H1	390067	broad.mit.edu	37	11	5566539	5566539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:5566539G>A	uc010qzh.2	-	0	215	c.215C>T	c.(214-216)tCc>tTc	p.S72F	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S72S(1)		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)		GGCCAGCATGGAGAGAAAGAA	0.478000														17			24		0	0	0.003330	0	0
GTPBP8	29083	broad.mit.edu	37	3	112711873	112711873	+	Splice_Site	SNP	G	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:112711873G>T	uc003dzn.3	+	2	384	c.337_splice	c.e2-1	p.V113_splice	GTPBP8_uc003dzp.2_Intron|GTPBP8_uc003dzo.3_Intron	NM_014170	NP_054889	Q8N3Z3	GTPB8_HUMAN	Homo sapiens GTP-binding protein 8 (putative) (GTPBP8), transcript variant 1, mRNA.	113					barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						CTTGTATAAGGTGTGTTTTAT	0.338000														41			19		2.4624e-09	2.91961e-09	0.008871	1	0
COL14A1	7373	broad.mit.edu	37	8	121282290	121282290	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:121282290G>A	uc003yox.3	+	25	3355	c.3090G>A	c.(3088-3090)aaG>aaA	p.K1030K	COL14A1_uc003yoz.3_5'UTR	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1030					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)			AGGCGGCCAAGGCTGACCTGG	0.403000														39			33		0	0	0.003755	0	0
LMAN1L	79748	broad.mit.edu	37	15	75105316	75105316	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:75105316G>A	uc002ayt.1	+	0	123	c.121G>A	c.(121-123)Ggc>Agc	p.G41S	LMAN1L_uc010bkd.2_5'UTR|LMAN1L_uc010ulo.1_5'UTR|LMAN1L_uc010bke.1_Missense_Mutation_p.G41S	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	41	L-type lectin-like.					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						CAGCTTCAAAGGCCCAAGGCT	0.607000														56			37		0	0	0.003755	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254047	39254047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:39254047G>A	uc010wfo.2	-	0	329	c.290C>T	c.(289-291)tCc>tTc	p.S97F		NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN	Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA.	97	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						gcagcagctggagatgcagca	0.672000														4			17		0	0	0.004007	0	0
FNDC7	163479	broad.mit.edu	37	1	109268397	109268397	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:109268397G>A	uc001dvx.3	+	5	882	c.882G>A	c.(880-882)acG>acA	p.T294T	FNDC7_uc010ova.2_Silent_p.T61T	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	295	Fibronectin type-III 4.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GAAGAGTGACGATCCAAGAAG	0.453000														12			21		0	0	0.014323	0	0
CNTLN	54875	broad.mit.edu	37	9	17309068	17309068	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:17309068T>G	uc003zmz.2	+	7	1185	c.1159T>G	c.(1159-1161)Tta>Gta	p.L387V	CNTLN_uc003zmy.3_Missense_Mutation_p.L387V|CNTLN_uc010mio.3_Missense_Mutation_p.L66V	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	387						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TTACAATGAGTTACATATTTG	0.303000														2			9		0	0	0.008291	0	0
ITGA1	3672	broad.mit.edu	37	5	52204848	52204848	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:52204848G>C	uc003jou.3	+	12	1990	c.1576G>C	c.(1576-1578)Gtg>Ctg	p.V526L	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Missense_Mutation_p.V57L	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	526					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GCAAGGAAAAGTGTATGTGTA	0.363000														45			5		0	0	0.000602	0	0
C8orf58	541565	broad.mit.edu	37	8	22460140	22460140	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:22460140G>A	uc003xce.3	+	5	1090	c.970G>A	c.(970-972)Gat>Aat	p.D324N	C8orf58_uc011kzl.2_Missense_Mutation_p.D316N|C8orf58_uc003xcf.3_Intron|KIAA1967_uc003xch.3_5'Flank|KIAA1967_uc003xci.3_5'Flank	NM_001013842	NP_001013864	Q8NAV2	CH058_HUMAN	Homo sapiens chromosome 8 open reading frame 58 (C8orf58), transcript variant 1, mRNA.	324										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TGCCCCTCCTGATGGCTCTGA	0.612000														20			11		0	0	0.001855	0	0
KCNA1	3736	broad.mit.edu	37	12	5020559	5020559	+	Silent	SNP	T	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:5020559T>G	uc001qnh.3	+	1	1120	c.15T>G	c.(13-15)tcT>tcG	p.S5S	KCNA1_uc021qts.1_Silent_p.S5S	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	5					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGGTGATGTCTGGGGAGAACG	0.736000														27			9		0	0	0.006214	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52810548	52810548	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:52810548C>A	uc001cto.3	+	17	4220	c.4048C>A	c.(4048-4050)Cac>Aac	p.H1350N	ZFYVE9_uc001ctp.3_Missense_Mutation_p.H1291N	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.	1350					SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TCTCTGTCCTCACCTGAAACT	0.463000														21			73		3.58576e-35	4.32614e-35	0.014410	1	0
MUC16	94025	broad.mit.edu	37	19	9056795	9056795	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:9056795G>A	uc002mkp.3	-	2	30855	c.30651C>T	c.(30649-30651)gcC>gcT	p.A10217A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10219	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						TATACTGTGAGGCTGGAGGCC	0.468000														31			18		0	0	0.010504	0	0
IKZF2	22807	broad.mit.edu	37	2	213921707	213921707	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:213921707C>T	uc002vem.3	-	3	425	c.256G>A	c.(256-258)Gag>Aag	p.E86K	IKZF2_uc010fuu.3_Intron|IKZF2_uc002vej.3_Missense_Mutation_p.E33K|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.E86K|IKZF2_uc002vel.3_Missense_Mutation_p.E33K|IKZF2_uc010fuw.3_5'UTR|IKZF2_uc010fux.3_Intron|IKZF2_uc010fuy.3_Missense_Mutation_p.E86K|IKZF2_uc002ven.3_Missense_Mutation_p.E86K	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E86K(2)		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)		TCGCTGCTCTCAATTAGGGGT	0.522000														37			10		0	0	0.010729	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128840274	128840274	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:128840274G>A	uc009zcp.3	-	21	4792	c.4792C>T	c.(4792-4794)Ccc>Tcc	p.P1598S	ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Missense_Mutation_p.P557S|ARHGAP32_uc001qez.3_Missense_Mutation_p.P1249S	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	1598	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CGTGAAATGGGAACAGAGCGA	0.542000														28			18		0	0	0.010504	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430899	37430899	+	Silent	SNP	T	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:37430899T>G	uc021ppc.1	+	6	1005	c.906T>G	c.(904-906)ccT>ccG	p.P302P	ANKRD30A_uc001iza.1_Silent_p.P302P	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	358						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						AAGAAACACCTAGGGAAATTA	0.443000														32			14		0	0	0.003163	0	0
CPXM1	56265	broad.mit.edu	37	20	2778646	2778646	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:2778646C>T	uc002wgu.3	-	4	723	c.649G>A	c.(649-651)Gga>Aga	p.G217R	CPXM1_uc010gas.3_Missense_Mutation_p.G217R	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	217	F5/8 type C.				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						TTCCTACTTCCCCACCAGGTC	0.602000														35			13		0	0	0.002450	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762352	130762352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:130762352C>T	uc003qcb.3	+	1	3163	c.785C>T	c.(784-786)tCc>tTc	p.S262F	TMEM200A_uc003qca.3_Missense_Mutation_p.S262F|TMEM200A_uc010kfh.3_Missense_Mutation_p.S262F|TMEM200A_uc010kfi.3_Missense_Mutation_p.S262F|TMEM200A_uc021zfg.1_Missense_Mutation_p.S262F	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	262						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)		CCACCTCCTTCCAAGACAACT	0.438000														3			55		0	0	0.014410	0	0
PTRH1	138428	broad.mit.edu	37	9	130477870	130477870	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:130477870T>G	uc004bro.3	-	0	1369	c.49A>C	c.(49-51)Atg>Ctg	p.M17L	PTRH1_uc004brm.3_Missense_Mutation_p.M17L|PTRH1_uc010mxm.3_Missense_Mutation_p.M30L|PTRH1_uc011mah.2_Missense_Mutation_p.M17L|TTC16_uc004brq.1_5'Flank|TTC16_uc011mai.1_5'Flank|TTC16_uc004brr.1_5'Flank	NM_001002913	NP_001002913	Q86Y79	PTH_HUMAN	Homo sapiens peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae) (PTRH1), mRNA.	17					translation		aminoacyl-tRNA hydrolase activity|protein binding			NS(1)	1						CATCGGCTCATGGCTCTACTC	0.682000														26			6		0	0	0.001168	0	0
THSD7A	221981	broad.mit.edu	37	7	11418889	11418889	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:11418889C>T	uc021zzo.1	-	25	4861	c.4609G>A	c.(4609-4611)Gaa>Aaa	p.E1537K	THSD7A_uc021zzn.1_Missense_Mutation_p.E1535K|BC040327_uc003ssb.3_Intron|THSD7A_uc003ssd.4_Missense_Mutation_p.E41K	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1537						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)		TACCCTTCTTCACAATGGCAT	0.443000										HNSCC(18;0.044)				26			38		0	0	0.007835	0	0
SCN1A	6323	broad.mit.edu	37	2	166930068	166930068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:166930068G>A	uc002udo.4	-	2	291	c.64C>T	c.(64-66)Ctt>Ttt	p.L22F	SCN1A_uc010fpk.3_Missense_Mutation_p.L22F|SCN1A_uc021vsb.1_Missense_Mutation_p.L22F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	22						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)	ATAGCCGCAAGAGATTCTCTG	0.423000														71			36		0	0	0.003755	0	0
EFHA1	221154	broad.mit.edu	37	13	22113825	22113825	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:22113825T>A	uc001uof.3	-	2	429	c.361A>T	c.(361-363)Aaa>Taa	p.K121*		NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	Homo sapiens EF-hand domain family, member A1 (EFHA1), mRNA.	121							calcium ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|skin(2)	13		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		ACTGAAGTTTTACCTACAACA	0.343000														8			22		0	0	0.003954	0	0
KCNK2	3776	broad.mit.edu	37	1	215342659	215342659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:215342659C>T	uc001hkq.3	+	3	762	c.593C>T	c.(592-594)aCc>aTc	p.T198I	KCNK2_uc001hko.3_Missense_Mutation_p.T194I|KCNK2_uc009xdm.3_Non-coding_Transcript|KCNK2_uc001hkp.3_Non-coding_Transcript|KCNK2_uc010pua.1_Non-coding_Transcript|KCNK2_uc001hkr.4_Missense_Mutation_p.T183I	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	Homo sapiens potassium channel, subfamily K, member 2 (KCNK2), transcript variant 3, mRNA.	198							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)	cagctaggcaccatatttgga	0.363000														10			19		0	0	0.007413	0	0
ABCG4	64137	broad.mit.edu	37	11	119025586	119025586	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:119025586T>G	uc001pvs.3	+	5	983	c.647T>G	c.(646-648)gTc>gGc	p.V216G	ABCG4_uc009zar.3_Missense_Mutation_p.V216G	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	216	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTGGAGCTGGTCAACAACCCG	0.627000														85			7		0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179629430	179629430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:179629430G>A	uc021vsy.1	-	41	10037	c.9812C>T	c.(9811-9813)tCc>tTc	p.S3271F	TTN_uc021vsz.1_Missense_Mutation_p.S3225F|TTN_uc021vta.1_Missense_Mutation_p.S3225F|TTN_uc021vtb.1_Missense_Mutation_p.S3225F|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.S3271F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3271	Ig-like 19.						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)			CTTGTACCAGGAAATTTTGGG	0.527000														27			82		0	0	0.014410	0	0
PARD3B	117583	broad.mit.edu	37	2	206480197	206480197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:206480197C>T	uc002var.2	+	22	3485	c.3278C>T	c.(3277-3279)cCt>cTt	p.P1093L	PARD3B_uc002vao.2_Missense_Mutation_p.P992L|PARD3B_uc002vap.2_Missense_Mutation_p.P1031L|PARD3B_uc002vaq.2_Missense_Mutation_p.P1024L	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	1093					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)		CCCGCAGATCCTGTAGACTAT	0.562000														82			24		0	0	0.003954	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954379	10954379	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:10954379T>G	uc001qyv.3	-	0	848	c.791A>C	c.(790-792)gAa>gCa	p.E264A		NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN	Homo sapiens taste receptor, type 2, member 7 (TAS2R7), mRNA.	264					sensory perception of taste	integral to membrane	taste receptor activity	p.T263S(1)		kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						CACAGCTAATTCCGTCTCTGG	0.413000														40			37		0	0	0.004878	0	0
DBH	1621	broad.mit.edu	37	9	136505042	136505042	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:136505042G>A	uc004cel.3	+	1	423	c.414G>A	c.(412-414)agG>agA	p.R138R		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	138	DOMON.				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)	AGGTGCAGAGGACCCCAGAAG	0.612000														1			22		0	0	0.012319	0	0
FAM70B	348013	broad.mit.edu	37	13	114507916	114507916	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:114507916C>T	uc001vuh.3	+	7	755	c.728C>T	c.(727-729)cCc>cTc	p.P243L		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	243						integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			CTCTACAACCCCGCCCAGCAG	0.677000														53			15		0	0	0.006122	0	0
FTSJD2	23070	broad.mit.edu	37	6	37414140	37414140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:37414140C>T	uc003ons.3	+	3	612	c.359C>T	c.(358-360)tCc>tTc	p.S120F	FTSJD2_uc010jwu.2_Missense_Mutation_p.S120F	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.	120	G-patch.				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						GTTGAGGCTTCCAGTCAGAAA	0.527000														84			128		0	0	0.014410	0	0
CASP8	841	broad.mit.edu	37	2	202136301	202136301	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:202136301T>C	uc002uxr.1	+	3	577	c.368T>C	c.(367-369)cTt>cCt	p.L123P	CASP8_uc010ftc.1_Missense_Mutation_p.L123P|CASP8_uc002uxo.1_Missense_Mutation_p.L123P|CASP8_uc002uxq.1_Missense_Mutation_p.L123P|CASP8_uc002uxp.1_Missense_Mutation_p.L155P|CASP8_uc002uxs.1_Missense_Mutation_p.L123P|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Missense_Mutation_p.L182P|CASP8_uc010ftd.1_Missense_Mutation_p.L20P|CASP8_uc002uxv.1_Missense_Mutation_p.L123P|CASP8_uc002uxw.1_Missense_Mutation_p.L123P|CASP8_uc021vuy.1_Intron|CASP8_uc021vuz.1_Missense_Mutation_p.L123P|CASP8_uc021vva.1_Missense_Mutation_p.L123P|CASP8_uc010ftf.2_Missense_Mutation_p.L123P|CASP8_uc010fte.1_Missense_Mutation_p.L20P	NM_033355	NP_203519	Q14790	CASP8_HUMAN	Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA.	123	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TTTAAGTTTCTTTTGCAAGAG	0.418000										HNSCC(4;0.00038)				31			4		0	0	0.000602	0	0
EPHA6	285220	broad.mit.edu	37	3	97124004	97124004	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:97124004G>A	uc010how.1	+	5	1660	c.1617G>A	c.(1615-1617)ctG>ctA	p.L539L		NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	444						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						CACCTTCCCTGATAGGTGTGG	0.393000														5			4		0	0	0.001168	0	0
MAN1A2	10905	broad.mit.edu	37	1	117944941	117944941	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:117944941C>T	uc001ehd.1	+	1	1157	c.436C>T	c.(436-438)Caa>Taa	p.Q146*	MAN1A2_uc009whg.1_Intron	NM_006699	NP_006690	O60476	MA1A2_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 2 (MAN1A2), mRNA.	146					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TAAGGTAGTCCAAGAAATGAA	0.403000														27			13		0	0	0.002450	0	0
UNC13C	440279	broad.mit.edu	37	15	54306208	54306209	+	Nonsense_Mutation	DNP	CC	TA	TA			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:54306208_54306209CC>TA	uc021smr.1	+	0	1108_1109	c.1108_1109CC>TA	c.(1108-1110)cca>TAa	p.P370*	UNC13C_uc021sms.1_Nonsense_Mutation_p.P370*	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	370					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)		GAGAGACTGCCCAAATGCAAAG	0.391000														22			17		0	0	0.004672	0	0
PYHIN1	149628	broad.mit.edu	37	1	158909006	158909006	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:158909006C>T	uc001ftb.3	+	3	798	c.548C>T	c.(547-549)tCa>tTa	p.S183L	PYHIN1_uc001fta.4_Missense_Mutation_p.S183L|PYHIN1_uc001ftc.3_Missense_Mutation_p.S174L|PYHIN1_uc001ftd.3_Missense_Mutation_p.S183L|PYHIN1_uc001fte.3_Missense_Mutation_p.S174L	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	183					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CAGACCTCATCATCAGCTCCA	0.507000														13			39		0	0	0.009718	0	0
XKR4	114786	broad.mit.edu	37	8	56436609	56436609	+	Silent	SNP	A	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:56436609A>G	uc003xsf.3	+	2	1808	c.1776A>G	c.(1774-1776)gaA>gaG	p.E592E		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	592						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GGATTGAAGAATCAGTCATTA	0.488000														38			38		0	0	0.006999	0	0
MUC16	94025	broad.mit.edu	37	19	9062444	9062444	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:9062444G>A	uc002mkp.3	-	2	25206	c.25002C>T	c.(25000-25002)acC>acT	p.T8334T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8336	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						CTTCCAAAGTGGTCAGTCTCT	0.493000														60			54		0	0	0.014410	0	0
AMPD3	272	broad.mit.edu	37	11	10503703	10503704	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:10503703_10503704CC>TT	uc001min.1	+	3	892_893	c.547_548CC>TT	c.(547-549)ccg>TTg	p.P183L	AMPD3_uc010rbz.1_Missense_Mutation_p.P15L|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc009yfx.1_Missense_Mutation_p.P174L|AMPD3_uc001mio.1_Missense_Mutation_p.P174L|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.P181L|AMPD3_uc009yfy.2_Missense_Mutation_p.P174L	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	174					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.P183L(2)		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)		CCACCGCTTCCCGCGGATCACA	0.609000														32			59		0	0	0.004672	0	0
ZNF783	100289678	broad.mit.edu	37	7	148978696	148978696	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:148978696C>T	uc011kuo.2	+	5	1066	c.903C>T	c.(901-903)atC>atT	p.I301I	AF035281_uc003wfr.4_Intron	NM_001195220	NP_001182149	C9J9J2	C9J9J2_HUMAN	Homo sapiens zinc finger family member 783 (ZNF783), mRNA.	301					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)			AGTGTAGAATCCCCCGAGGGC	0.687000														67			25		0	0	0.004656	0	0
MUC16	94025	broad.mit.edu	37	19	9047336	9047336	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:9047336G>C	uc002mkp.3	-	4	34499	c.34295C>G	c.(34294-34296)aCa>aGa	p.T11432R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11434	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						AAATGAGGTTGTGGTCTCTGG	0.473000														115			10		0	0	0.008291	0	0
DNAH5	1767	broad.mit.edu	37	5	13923496	13923496	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:13923496G>A	uc003jfd.2	-	3	373	c.331C>T	c.(331-333)Cct>Tct	p.P111S	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	111	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P111T(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AACACCTTAGGTTTTTTAATC	0.428000									Kartagener syndrome					38			45		0	0	0.010771	0	0
LRP1B	53353	broad.mit.edu	37	2	141665549	141665549	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:141665549G>A	uc002tvj.1	-	21	4389	c.3417C>T	c.(3415-3417)ccC>ccT	p.P1139P	LRP1B_uc010fnl.1_Silent_p.P321P	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1139	LDL-receptor class A 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.P1138L(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)		AAGGATGCTTGGGTGGTCCAC	0.468000										TSP Lung(27;0.18)				22			50		0	0	0.014410	0	0
TNFSF10	8743	broad.mit.edu	37	3	172227089	172227089	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:172227089G>A	uc003fid.3	-	3	459	c.336C>T	c.(334-336)ccC>ccT	p.P112P	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_Intron	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	112					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)			CTCTCACTAGGGGAGAAATAT	0.403000														43			32		0	0	0.004289	0	0
CCDC87	55231	broad.mit.edu	37	11	66358272	66358272	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:66358272C>A	uc001oiq.4	-	0	2283	c.2215G>T	c.(2215-2217)Gag>Tag	p.E739*	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	739										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TCAAACCACTCTAGTCTCGCC	0.562000														76			31		4.02929e-09	4.7711e-09	0.010818	1	0
PAAF1	80227	broad.mit.edu	37	11	73625470	73625470	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:73625470T>C	uc001ouk.1	+	7	774	c.740T>C	c.(739-741)gTt>gCt	p.V247A	PAAF1_uc001oul.1_Missense_Mutation_p.V230A|PAAF1_uc001oum.1_Missense_Mutation_p.V230A	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN	Homo sapiens proteasomal ATPase-associated factor 1 (PAAF1), mRNA.	247					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					GAACGGGAGGTTGGAACAGAG	0.483000														18			25		0	0	0.008361	0	0
CYLC1	1538	broad.mit.edu	37	X	83129238	83129238	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chrX:83129238G>A	uc004eei.1	+	3	1543	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N	CYLC1_uc004eeh.1_Missense_Mutation_p.D507N	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	508					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						TTCAAAGAAAGATATCAAGAA	0.353000														0			11		0	0	0.010729	0	0
OR5T3	390154	broad.mit.edu	37	11	56019898	56019898	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:56019898C>T	uc010rjd.2	+	0	223	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G74V(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					CAATTTAGGGCTGGTTGTGTT	0.373000														41			14		0	0	0.002450	0	0
ACD	65057	broad.mit.edu	37	16	67694175	67694176	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:67694175_67694176CC>TT	uc002etq.4	-	0	543_544	c.206_207GG>AA	c.(205-207)tgg>tAA	p.W69*	ACD_uc002etp.4_Nonsense_Mutation_p.W69*|ACD_uc002etr.4_Nonsense_Mutation_p.W69*|ACD_uc010vjt.1_Nonsense_Mutation_p.W59*|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA.	69					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCGCGGGCGCCCAGGCCCCGCC	0.733000														17			29		0	0	0.004672	0	0
UBE3C	9690	broad.mit.edu	37	7	156967666	156967666	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:156967666G>A	uc010lqs.3	+	4	708	c.396G>A	c.(394-396)ttG>ttA	p.L132L	UBE3C_uc003wnf.2_Silent_p.L89L|UBE3C_uc003wng.2_Silent_p.L132L	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	132					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TCAAGCAGTTGGATGGATCTG	0.318000														87			17		0	0	0.007413	0	0
ZPBP	11055	broad.mit.edu	37	7	50097584	50097584	+	Splice_Site	SNP	C	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:50097584C>A	uc003tou.3	-	4	557	c.487_splice	c.e4+1	p.A163_splice	ZPBP_uc010kyw.3_Splice_Site_p.A162_splice	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	163					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TTACTTCTTACCATATATAGC	0.279000														9			6		3.59834e-05	4.23278e-05	0.001168	1	0
SNX1	6642	broad.mit.edu	37	15	64410335	64410335	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:64410335C>T	uc002amv.3	+	2	421	c.291C>T	c.(289-291)tcC>tcT	p.S97S	SNX1_uc010bgv.3_Intron|SNX1_uc010uio.2_Silent_p.S97S|SNX1_uc002amx.3_Intron|SNX1_uc010bgw.3_Intron	NM_003099	NP_003090	Q13596	SNX1_HUMAN	Homo sapiens sorting nexin 1 (SNX1), transcript variant 1, mRNA.	97					cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	Golgi apparatus|early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						TGGAGCTATCCTTGGACAGCA	0.403000														43			43		0	0	0.010771	0	0
ZNF341	84905	broad.mit.edu	37	20	32344994	32344994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:32344994C>T	uc002wzy.3	+	5	802	c.782C>T	c.(781-783)cCc>cTc	p.P261L	ZNF341_uc002wzx.3_Missense_Mutation_p.P261L|ZNF341_uc010geq.3_Missense_Mutation_p.P171L|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P261P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						TATCCCACCCCCACAGTGTAC	0.617000														97			73		0	0	0.014410	0	0
ZC3H13	23091	broad.mit.edu	37	13	46549572	46549572	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:46549572G>A	uc010tfw.1	-	10	2320	c.2314C>T	c.(2314-2316)Cgg>Tgg	p.R772W	ZC3H13_uc001vas.1_Missense_Mutation_p.R772W|ZC3H13_uc001vat.1_Missense_Mutation_p.R772W	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	772	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		tctcgttcccgttctcgctct	0.512000														25			42		0	0	0.006999	0	0
OR52A5	390054	broad.mit.edu	37	11	5153778	5153778	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:5153778G>A	uc010qyx.2	-	0	95	c.95C>T	c.(94-96)cCt>cTt	p.P32L		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)		GGCAGAGAAAGGAATCCCAAT	0.393000														31			7		0	0	0.001984	0	0
USP9Y	8287	broad.mit.edu	37	Y	14889989	14889989	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chrY:14889989G>A	uc004fst.1	+	19	3621	c.2676G>A	c.(2674-2676)cgG>cgA	p.R892R	USP9Y_uc010nwu.1_Non-coding_Transcript	NM_004654	NP_004645	O00507	USP9Y_HUMAN	Homo sapiens ubiquitin specific peptidase 9, Y-linked (USP9Y), mRNA.	892					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						TTATAGTTCGGTTTCCAAACC	0.343000														3			13		0	0	0.002450	0	0
MX1	4599	broad.mit.edu	37	21	42811650	42811650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr21:42811650G>A	uc010goq.3	+	5	812	c.466G>A	c.(466-468)Gga>Aga	p.G156R	MX1_uc002yzh.3_Missense_Mutation_p.G156R|MX1_uc002yzi.3_Missense_Mutation_p.G156R	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	156					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)				GGAAGGAATGGGAATCAGTCA	0.493000														54			22		0	0	0.002780	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535994	69535994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:69535994C>T	uc021xow.1	-	0	501	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	115					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CAACACAATTCTTGTAATTGT	0.284000														29			49		0	0	0.014410	0	0
CACNA1E	777	broad.mit.edu	37	1	181726163	181726163	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:181726163C>T	uc009wxt.3	+	29	4425	c.4230C>T	c.(4228-4230)ttC>ttT	p.F1410F	CACNA1E_uc001gow.3_Silent_p.F1410F|CACNA1E_uc009wxs.3_Silent_p.F1391F|CACNA1E_uc001gox.1_Silent_p.F636F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1410					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						TTGTGGTCTTCCCCTTCTTCT	0.488000														21			40		0	0	0.006230	0	0
CCDC127	133957	broad.mit.edu	37	5	205858	205858	+	Silent	SNP	A	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:205858A>G	uc003jam.1	-	2	437	c.337T>C	c.(337-339)Ttg>Ctg	p.L113L		NM_145265	NP_660308	Q96BQ5	CC127_HUMAN	Homo sapiens coiled-coil domain containing 127 (CCDC127), mRNA.	113										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			TCTTCTACCAACTTGCGTCCC	0.488000														43			45		0	0	0.014410	0	0
PCDH15	65217	broad.mit.edu	37	10	55568779	55568779	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:55568779C>T	uc021pqw.1	-	35	5435	c.5040G>A	c.(5038-5040)agG>agA	p.R1680R	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Silent_p.R1675R|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)				gctcctcttTCCTACCCTTGA	0.448000										HNSCC(58;0.16)				4			4		0	0	0.009096	0	0
FHL3	2275	broad.mit.edu	37	1	38463120	38463121	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:38463120_38463121CC>TT	uc001cck.3	-	5	978_979	c.799_800GG>AA	c.(799-801)gga>AAa	p.G267K	FHL3_uc001ccm.3_Missense_Mutation_p.G159K	NM_004468	NP_004459	Q13643	FHL3_HUMAN	Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA.	267	LIM zinc-binding 4.				muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CACTTGGTCTCCATCCGGTACG	0.629000														55			12		0	0	0.004672	0	0
DNAH7	56171	broad.mit.edu	37	2	196737151	196737151	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:196737151G>A	uc002utj.4	-	39	6557	c.6456C>T	c.(6454-6456)atC>atT	p.I2152I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2152	AAA 3 (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						TGCCATTTACGATTTGTGTGG	0.323000														50			13		0	0	0.002450	0	0
PPP6C	5537	broad.mit.edu	37	9	127912080	127912080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:127912080G>A	uc010mwv.3	-	7	1122	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	PPP6C_uc004bpg.4_Missense_Mutation_p.R264C|PPP6C_uc010mww.3_Missense_Mutation_p.R242C|PPP6C_uc011lzr.2_Missense_Mutation_p.R117C	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	264					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.R264C(3)|p.T301T(2)|p.R301C(1)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TTTCCACAACGATAGCAGTAA	0.403000														0			7		0	0	0.004482	0	0
ZBED1	9189	broad.mit.edu	37	X	2406910	2406910	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chrX:2406910G>A	uc022brx.1	-	0	1851	c.1851C>T	c.(1849-1851)gcC>gcT	p.A617A	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Silent_p.A617A|ZBED1_uc004cqg.2_Silent_p.A617A|ZBED1_uc022brw.1_Silent_p.A617A	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	617						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GACGCTCAGGGGCGACGCGCG	0.657000														101			79		0	0	0.014410	0	0
CDRT4	284040	broad.mit.edu	37	17	15341424	15341424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:15341424C>T	uc002gop.2	-	3	403	c.122G>A	c.(121-123)aGa>aAa	p.R41K	CDRT4_uc021tqm.1_Missense_Mutation_p.R41K|FAM18B2_uc010vvx.2_3'UTR|FAM18B2_uc010vvw.2_3'UTR	NM_001204477	NP_001191406	Q8N9R6	CDRT4_HUMAN	Homo sapiens CMT1A duplicated region transcript 4 (CDRT4), mRNA.	41										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		CTCAATGAGTCTTTTCACTGT	0.488000														6			41		0	0	0.008740	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41018857	41018857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:41018857C>T	uc003jmj.4	-	25	3099	c.2609G>A	c.(2608-2610)gGa>gAa	p.G870E	HEATR7B2_uc003jmi.4_Missense_Mutation_p.G425E	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	870							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						CAGAAGTTTTCCTAGGGCGTC	0.448000														40			27		0	0	0.008361	0	0
DYNLRB1	83658	broad.mit.edu	37	20	33122537	33122537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:33122537C>T	uc002xal.3	+	2	245	c.185C>T	c.(184-186)cCc>cTc	p.P62L	DYNLRB1_uc010zuk.2_Missense_Mutation_p.P62L	NM_014183	NP_054902	Q9NP97	DLRB1_HUMAN	Homo sapiens dynein, light chain, roadblock-type 1 (DYNLRB1), mRNA.	62					microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity			endometrium(1)|large_intestine(1)|lung(1)	3						GACATCGACCCCCAGAACGAT	0.537000														30			29		0	0	0.008361	0	0
CLPX	10845	broad.mit.edu	37	15	65443233	65443233	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:65443233G>A	uc002aom.3	-	13	1902	c.1830C>T	c.(1828-1830)tcC>tcT	p.S610S	CLPX_uc010uiu.2_Non-coding_Transcript	NM_006660	NP_006651	O76031	CLPX_HUMAN	Homo sapiens ClpX caseinolytic peptidase X homolog (E. coli) (CLPX), mRNA.	610					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						CCTCTTCAGAGGATTCTTTTG	0.373000														64			56		0	0	0.014410	0	0
C1orf173	127254	broad.mit.edu	37	1	75078426	75078426	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:75078426C>T	uc001dgg.3	-	8	1287	c.1068G>A	c.(1066-1068)ggG>ggA	p.G356G	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Silent_p.G150G	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	356										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						TCACCTGCATCCCATTCAGGA	0.428000														11			35		0	0	0.004878	0	0
OR4N4	283694	broad.mit.edu	37	15	22383168	22383168	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:22383168G>A	uc001yuc.1	+	6	1677	c.696G>A	c.(694-696)ggG>ggA	p.G232G	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Silent_p.G232G	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	232					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)		CTTCTGAAGGGAAGAACAAGG	0.498000														146			42		0	0	0.008740	0	0
DHX37	57647	broad.mit.edu	37	12	125441650	125441650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:125441650G>A	uc001ugy.3	-	16	2288	c.2189C>T	c.(2188-2190)tCc>tTc	p.S730F		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	730							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGCTTCCACGGAGGGGGGCGT	0.617000														6			52		0	0	0.014410	0	0
AKR1B10	57016	broad.mit.edu	37	7	134222378	134222378	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:134222378G>A	uc003vrr.3	+	6	1026	c.706G>A	c.(706-708)Gag>Aag	p.E236K		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	236					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CAAGATTAAGGAGATTGCTGC	0.448000														54			92		0	0	0.014410	0	0
OR52E4	390081	broad.mit.edu	37	11	5906189	5906189	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:5906189C>T	uc010qzs.2	+	0	667	c.667C>T	c.(667-669)Ctt>Ttt	p.L223F	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGCTTATCCTTAGAGCTGT	0.428000														58			34		0	0	0.004878	0	0
DNAH3	55567	broad.mit.edu	37	16	20996728	20996728	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:20996728G>A	uc010vbe.2	-	47	7336	c.7336C>T	c.(7336-7338)Ctg>Ttg	p.L2446L	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2446	AAA 4 (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)		AATGTGGACAGTTTGGCGGCA	0.527000														23			12		0	0	0.001855	0	0
MAGI1	9223	broad.mit.edu	37	3	65416490	65416490	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:65416490T>G	uc003dmn.3	-	10	1956	c.1430A>C	c.(1429-1431)aAa>aCa	p.K477T	MAGI1_uc003dmm.3_Missense_Mutation_p.K477T|MAGI1_uc003dmo.3_Missense_Mutation_p.K477T|MAGI1_uc003dmp.3_Missense_Mutation_p.K477T|MAGI1_uc010hny.2_Missense_Mutation_p.K362T	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	477	PDZ 2.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.R476Q(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ACGACTGCTTTTCCGCAGCTT	0.458000														3			23		0	0	0.014323	0	0
ATP10A	57194	broad.mit.edu	37	15	26026297	26026297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:26026297C>T	uc010ayu.3	-	1	629	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	175					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.E175K(2)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGGAAGATTTCGTTGCAGCGA	0.498000														27			21		0	0	0.008871	0	0
TBC1D13	54662	broad.mit.edu	37	9	131559354	131559354	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:131559354C>T	uc010myj.3	+	6	527	c.404C>T	c.(403-405)tCc>tTc	p.S135F	TBC1D13_uc010myk.3_Missense_Mutation_p.S135F|TBC1D13_uc010myl.3_5'UTR	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	Homo sapiens TBC1 domain family, member 13 (TBC1D13), mRNA.	135	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CCAGACATTTCCTTCTTCCAG	0.502000														8			66		0	0	0.014410	0	0
ZNF445	353274	broad.mit.edu	37	3	44488675	44488675	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:44488675C>T	uc003cnf.2	-	7	2836	c.2488G>A	c.(2488-2490)Gag>Aag	p.E830K	ZNF445_uc011azv.1_Missense_Mutation_p.E818K|ZNF445_uc011azw.1_Missense_Mutation_p.E830K	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	830					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		ATTTTTGGCTCCACATTTGGA	0.403000														14			50		0	0	0.014410	0	0
PCDH15	65217	broad.mit.edu	37	10	55719528	55719528	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:55719528G>A	uc010qhy.1	-	23	3496	c.3101C>T	c.(3100-3102)cCt>cTt	p.P1034L	PCDH15_uc010qhq.2_Missense_Mutation_p.P1034L|PCDH15_uc010qhr.2_Missense_Mutation_p.P1029L|PCDH15_uc021pqv.1_Missense_Mutation_p.P1029L|PCDH15_uc021pqw.1_Missense_Mutation_p.P1041L|PCDH15_uc010qht.2_Missense_Mutation_p.P1036L|PCDH15_uc021pqx.1_Missense_Mutation_p.P1029L|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.P1029L|PCDH15_uc021pqz.1_Missense_Mutation_p.P1007L|PCDH15_uc010qhv.1_Missense_Mutation_p.P1029L|PCDH15_uc010qhw.1_Missense_Mutation_p.P992L|PCDH15_uc010qhx.1_Missense_Mutation_p.P958L|PCDH15_uc010qhz.1_Missense_Mutation_p.P1029L|PCDH15_uc010qia.1_Missense_Mutation_p.P1007L|PCDH15_uc001jju.1_Missense_Mutation_p.P1029L|PCDH15_uc010qib.1_Missense_Mutation_p.P1007L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1029	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.R1034H(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)				GATCTCACCAGGATGTAAGAC	0.413000										HNSCC(58;0.16)				8			11		0	0	0.013537	0	0
ITFG2	55846	broad.mit.edu	37	12	2927111	2927111	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:2927111G>A	uc001qlb.2	+	2	369	c.229G>A	c.(229-231)Gga>Aga	p.G77R	ITFG2_uc001qla.2_Missense_Mutation_p.G77R|ITFG2_uc010seb.2_Intron|ITFG2_uc010sec.2_Non-coding_Transcript	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 2 (ITFG2), mRNA.	77										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GTGTAATAAAGGAAAGGTAAG	0.483000														38			33		0	0	0.006230	0	0
CYP4F12	66002	broad.mit.edu	37	19	15795942	15795942	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:15795942C>T	uc002nbl.3	+	8	1169	c.1050C>T	c.(1048-1050)taC>taT	p.Y350Y		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ACCCAGAATACCAGGAGCGCT	0.587000														37			30		0	0	0.012213	0	0
SLC12A8	84561	broad.mit.edu	37	3	124807214	124807214	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:124807214C>T	uc003ehw.4	-	13	2079	c.2009_splice	c.e13-1	p.G670_splice	SLC12A8_uc003ehv.4_Splice_Site_p.G641_splice|SLC12A8_uc003eht.4_Splice_Site_p.G442_splice|SLC12A8_uc010hry.3_Intron	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	641					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GGAGGCTGATCCTGCAGGGAA	0.463000														16			16		0	0	0.004990	0	0
DYSF	8291	broad.mit.edu	37	2	71730396	71730396	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:71730396C>T	uc010fen.3	+	3	433	c.292C>T	c.(292-294)Ctg>Ttg	p.L98L	DYSF_uc010fei.3_Silent_p.L97L|DYSF_uc010feh.3_Silent_p.L97L|DYSF_uc002sig.4_Silent_p.L97L|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.L97L|DYSF_uc010fee.3_Silent_p.L97L|DYSF_uc010fef.3_Silent_p.L97L|DYSF_uc002sie.3_Silent_p.L97L|DYSF_uc010feo.3_Silent_p.L98L|DYSF_uc010fej.3_Silent_p.L98L|DYSF_uc010fel.3_Silent_p.L98L|DYSF_uc010fem.3_Silent_p.L98L|DYSF_uc002sif.3_Silent_p.L98L|DYSF_uc010fek.3_Silent_p.L98L	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	97						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CACCCCTAGTCTGTCCGCCAG	0.582000														89			25		0	0	0.007291	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999038	27999038	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chrX:27999038C>T	uc004dbx.1	-	0	529	c.414G>A	c.(412-414)gcG>gcA	p.A138A		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	138										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						ACTCCTCCAACGCCTGATCCT	0.577000														2			11		0	0	0.013537	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596164	24596164	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:24596164C>T	uc011djo.2	-	2	1238	c.738G>A	c.(736-738)gaG>gaA	p.E246E	KIAA0319_uc011djp.2_Silent_p.E201E|KIAA0319_uc003neh.1_Silent_p.E246E|KIAA0319_uc011djq.1_Silent_p.E237E|KIAA0319_uc011djr.1_Silent_p.E246E	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	246					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCTCCAACACCTCTCCTGAAG	0.527000														27			55		0	0	0.014410	0	0
TDRKH	11022	broad.mit.edu	37	1	151751596	151751596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:151751596C>T	uc009wnb.1	-	4	726	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.4_Missense_Mutation_p.E178K|TDRKH_uc001ezc.4_Missense_Mutation_p.E137K|TDRKH_uc001eza.4_Missense_Mutation_p.E182K|TDRKH_uc001ezd.4_Missense_Mutation_p.E182K|TDRKH_uc010pdn.1_5'UTR	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	182	KH 2.						RNA binding	p.E182Q(2)		breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGCCACTTCCTTCTGTGTT	0.398000														33			71		0	0	0.014410	0	0
ZNF518A	9849	broad.mit.edu	37	10	97916862	97916862	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:97916862C>T	uc001klp.3	+	5	1640	c.783C>T	c.(781-783)ccC>ccT	p.P261P	ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.3_Silent_p.P261P|ZNF518A_uc001klr.3_Silent_p.P261P	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GTACTTTTCCCTTCACTTGTC	0.348000														21			23		0	0	0.014323	0	0
GRK4	2868	broad.mit.edu	37	4	3031080	3031080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:3031080G>A	uc003ggn.1	+	11	1668	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	GRK4_uc003ggo.1_Missense_Mutation_p.D405N|GRK4_uc003ggp.1_Missense_Mutation_p.D373N|GRK4_uc003ggq.1_Missense_Mutation_p.D373N	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	405	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AATCAAGAATGATACCGAGGA	0.423000														30			7		0	0	0.006214	0	0
LRRC7	57554	broad.mit.edu	37	1	70493873	70493873	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:70493873G>A	uc001dep.3	+	15	1730	c.1700G>A	c.(1699-1701)cGa>cAa	p.R567Q	LRRC7_uc009wbg.3_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	567						centrosome|focal adhesion|nucleolus	protein binding	p.R567*(2)		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						AACCTAAAACGATATCCAACT	0.323000														23			40		0	0	0.009718	0	0
C11orf53	341032	broad.mit.edu	37	11	111156735	111156735	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:111156735G>T	uc001plc.3	+	3	814	c.667G>T	c.(667-669)Ggg>Tgg	p.G223W		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA.	223										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		GAAAGAAGATGGGAGTATTGC	0.522000														42			19		1.56452e-12	1.86491e-12	0.007413	1	0
DMBT1	1755	broad.mit.edu	37	10	124348527	124348527	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:124348527C>T	uc001lgk.1	+	16	1957	c.1851C>T	c.(1849-1851)gtC>gtT	p.V617V	DMBT1_uc001lgl.1_Silent_p.V607V|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Silent_p.V617V|DMBT1_uc021qag.1_Silent_p.V607V|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Silent_p.V617V|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	617	SRCR 5.				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)				GAGTGGAGGTCCTATACCGAG	0.577000														94			62		0	0	0.014410	0	0
MYH2	4620	broad.mit.edu	37	17	10428832	10428832	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:10428832C>T	uc010coi.3	-	31	4601	c.4473G>A	c.(4471-4473)aaG>aaA	p.K1491K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.K1491K|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.	1491					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						CATAGGCATTCTTTATCTTGA	0.443000														5			36		0	0	0.006999	0	0
CPAMD8	27151	broad.mit.edu	37	19	17038956	17038956	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:17038956G>A	uc002nfb.3	-	24	3406	c.3374C>T	c.(3373-3375)tCc>tTc	p.S1125F		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1078						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						CCAGCCGGTGGAAAAGCCAAT	0.597000														29			34		0	0	0.006999	0	0
CHST10	9486	broad.mit.edu	37	2	101009730	101009730	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:101009730T>C	uc002tam.3	-	6	1446	c.1048A>G	c.(1048-1050)Aaa>Gaa	p.K350E		NM_004854	NP_004845	O43529	CHSTA_HUMAN	Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA.	350					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						AAGTCTGGTTTCTGGTACCCA	0.458000														54			24		0	0	0.003954	0	0
P2RY13	53829	broad.mit.edu	37	3	151046628	151046628	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:151046628G>A	uc003eyv.2	-	1	237	c.216C>T	c.(214-216)atC>atT	p.I72I	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 13 (P2RY13), mRNA.	72						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			AGGAGCTGGGGATGTGAACAA	0.483000														33			33		0	0	0.010818	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21487557	21487557	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:21487557C>T	uc001rer.3	-	0	276	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	SLCO1A2_uc010siq.2_5'UTR|SLCO1A2_uc001res.3_Missense_Mutation_p.E9K|SLCO1A2_uc010sio.2_5'UTR|SLCO1A2_uc010sip.2_5'UTR	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	9					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						CTATGGGTTTCAATTCTTTTC	0.348000														43			22		0	0	0.003330	0	0
EPHB2	2048	broad.mit.edu	37	1	23235571	23235571	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:23235571C>T	uc009vqj.1	+	12	2554	c.2409C>T	c.(2407-2409)ttC>ttT	p.F803F	EPHB2_uc001bge.3_Silent_p.F804F|EPHB2_uc001bgf.3_Silent_p.F803F|EPHB2_uc010odu.2_Silent_p.F745F	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	803	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACCGGAAGTTCACCTCGGCCA	0.597000														31			7		0	0	0.004482	0	0
USP29	57663	broad.mit.edu	37	19	57640306	57640306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:57640306C>T	uc002qny.3	+	3	619	c.263C>T	c.(262-264)tCc>tTc	p.S88F	USP29_uc021vci.1_Missense_Mutation_p.S88F	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	88					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)		GACAAATTATCCTACAGAGAT	0.348000														20			15		0	0	0.003163	0	0
NBPF1	55672	broad.mit.edu	37	1	16902912	16902912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:16902912C>T	uc009vos.1	-	18	2857	c.1969G>A	c.(1969-1971)Gaa>Aaa	p.E657K	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Missense_Mutation_p.E115K|NBPF1_uc010oce.1_Missense_Mutation_p.E386K	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	657						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)		TCTCTCCCTTCCCGTAACTTC	0.517000														481			51		0	0	0.014410	0	0
CPT1A	1374	broad.mit.edu	37	11	68525182	68525182	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:68525182C>T	uc001oog.4	-	18	2422	c.2252G>A	c.(2251-2253)gGa>gAa	p.G751E	CPT1A_uc001oof.4_Intron	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	751					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)	CAGGTGCCTTCCAAAGCGATG	0.398000														19			26		0	0	0.007291	0	0
TRIM55	84675	broad.mit.edu	37	8	67039647	67039647	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:67039647G>A	uc003xvv.3	+	0	370	c.144G>A	c.(142-144)agG>agA	p.R48R	TRIM55_uc003xvu.3_Silent_p.R48R|TRIM55_uc003xvw.3_Silent_p.R48R|TRIM55_uc003xvx.3_Silent_p.R48R	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	48						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			ACCTGTGTAGGAAATGTGCCA	0.448000														106			69		0	0	0.014410	0	0
DAND5	199699	broad.mit.edu	37	19	13080481	13080481	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:13080481C>T	uc002mwc.1	+	0	158	c.7C>T	c.(7-9)Ctt>Ttt	p.L3F	DAND5_uc010dyz.1_Missense_Mutation_p.L33F	NM_152654	NP_689867	Q8N907	DAND5_HUMAN	Homo sapiens DAN domain family, member 5 (DAND5), mRNA.	3						extracellular region				kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			gcagaTGCTCCTTGGCCAGCT	0.617000														73			30		0	0	0.008361	0	0
FTSJD1	55783	broad.mit.edu	37	16	71319742	71319742	+	Missense_Mutation	SNP	C	T	T	rs147189785		TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:71319742C>T	uc021tkr.1	-	0	82	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	FTSJD1_uc010cga.3_Missense_Mutation_p.E28K|FTSJD1_uc002ezy.4_Missense_Mutation_p.E28K|FTSJD1_uc002ezz.4_Missense_Mutation_p.E28K	NM_018348	NP_060818	Q8IYT2	FTSJ1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 1 (FTSJD1), transcript variant 1, mRNA.	28						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCAAAGAGTTCAAAAATGTCA	0.403000														6			15		0	0	0.004990	0	0
SH2D6	284948	broad.mit.edu	37	2	85663599	85663599	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:85663599C>T	uc002spq.3	+	3	583	c.422C>T	c.(421-423)tCc>tTc	p.S141F	SH2D6_uc002spo.3_Non-coding_Transcript|SH2D6_uc002spp.3_Non-coding_Transcript	NM_198482	NP_940884	Q7Z4S9	SH2D6_HUMAN	Homo sapiens SH2 domain containing 6 (SH2D6), mRNA.	141	SH2.									central_nervous_system(1)|lung(2)	3						CTCTTCTCCTCCGTGGCGGCC	0.632000														6			17		0	0	0.007413	0	0
IP6K3	117283	broad.mit.edu	37	6	33694580	33694580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:33694580G>A	uc010jvf.2	-	4	1053	c.517C>T	c.(517-519)Ccg>Tcg	p.P173S	IP6K3_uc003ofb.2_Missense_Mutation_p.P173S	NM_001142883	NP_473452	Q96PC2	IP6K3_HUMAN	Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA.	173					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						AGGCCCCACGGGTTGAAGCTC	0.612000														53			17		0	0	0.004007	0	0
KIAA1377	57562	broad.mit.edu	37	11	101834437	101834437	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:101834437C>T	uc001pgm.3	+	5	2941	c.2671C>T	c.(2671-2673)Cat>Tat	p.H891Y	KIAA1377_uc001pgn.3_Missense_Mutation_p.H847Y|KIAA1377_uc010run.2_Missense_Mutation_p.H692Y|KIAA1377_uc009yxa.1_Missense_Mutation_p.H692Y	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	891							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAAAATAAATCATTCAAATGG	0.418000														24			23		0	0	0.014323	0	0
F8	2157	broad.mit.edu	37	X	154157318	154157318	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chrX:154157318G>A	uc004fmt.3	-	13	4918	c.4747C>T	c.(4747-4749)Cct>Tct	p.P1583S		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1583	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)	CAAGCAAGAGGATCCAATAGC	0.428000														11			93		0	0	0.014410	0	0
MYH15	22989	broad.mit.edu	37	3	108219027	108219027	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:108219027C>T	uc003dxa.1	-	4	551	c.494G>A	c.(493-495)cGa>cAa	p.R165Q		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	165	Myosin head-like.					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						AGCCTCTGATCGCCTCTTCCC	0.463000														27			20		0	0	0.007413	0	0
ODZ4	26011	broad.mit.edu	37	11	78380018	78380018	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:78380018T>A	uc001ozl.4	-	31	7835	c.7372A>T	c.(7372-7374)Atc>Ttc	p.I2458F	ODZ4_uc001ozk.4_Missense_Mutation_p.I683F	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2458					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						GAGTTGCTGATGGGGTTGTTG	0.502000														22			38		0	0	0.011902	0	0
DNAH5	1767	broad.mit.edu	37	5	13762932	13762932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:13762932C>T	uc003jfd.2	-	59	10222	c.10180G>A	c.(10180-10182)Gaa>Aaa	p.E3394K	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3394	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)					TTAGCAGTTTCGATGTTATAG	0.373000									Kartagener syndrome					30			33		0	0	0.010818	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361671	105361671	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:105361671C>T	uc003ylx.1	+	1	940	c.891C>T	c.(889-891)ttC>ttT	p.F297F		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	297					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											GGCTGTTTTTCCTCCCCATAC	0.478000														88			77		0	0	0.014410	0	0
TOM1	10043	broad.mit.edu	37	22	35729433	35729433	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:35729433G>A	uc003ann.3	+	9	1095	c.970G>A	c.(970-972)Gac>Aac	p.D324N	TOM1_uc011ami.2_Missense_Mutation_p.D291N|TOM1_uc003anp.3_Missense_Mutation_p.D324N|TOM1_uc011aml.2_Missense_Mutation_p.D279N|TOM1_uc011amk.2_Missense_Mutation_p.D286N|TOM1_uc003ano.3_Non-coding_Transcript|TOM1_uc011amj.2_Missense_Mutation_p.D167N|MIR3909_uc021woj.1_5'Flank	NM_005488	NP_005479	O60784	TOM1_HUMAN	Homo sapiens target of myb1 (chicken) (TOM1), transcript variant 1, mRNA.	324					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						TGACCTGATCGACATGGGCCC	0.607000														21			34		0	0	0.003755	0	0
ACOX1	51	broad.mit.edu	37	17	73945809	73945809	+	Missense_Mutation	SNP	G	A	A	rs143601596	byFrequency	TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:73945809G>A	uc002jqe.3	-	9	1829	c.1468C>T	c.(1468-1470)Cgt>Tgt	p.R490C	ACOX1_uc010wsq.2_Missense_Mutation_p.R452C|ACOX1_uc010wsr.2_Missense_Mutation_p.R422C|ACOX1_uc002jqf.3_Missense_Mutation_p.R490C	NM_004035	NP_001171968	Q15067	ACOX1_HUMAN	Homo sapiens acyl-CoA oxidase 1, palmitoyl (ACOX1), transcript variant 1, mRNA.	490					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						CTGGCTGCACGGAGTTTATAT	0.562000														5			29		0	0	0.012213	0	0
COL11A2	1302	broad.mit.edu	37	6	33141489	33141489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:33141489G>A	uc003ocx.1	-	34	2845	c.2617C>T	c.(2617-2619)Cct>Tct	p.P873S	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.P787S|COL11A2_uc003ocz.1_Missense_Mutation_p.P766S	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	873	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						CTCTCTCCAGGGGGCCCATGG	0.627000														14			16		0	0	0.006122	0	0
GABRG1	2565	broad.mit.edu	37	4	46066497	46066497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:46066497G>A	uc003gxb.3	-	4	738	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	196					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)		TCATCCATGGGAAAGTTATGA	0.269000														70			17		0	0	0.012319	0	0
TSPYL6	388951	broad.mit.edu	37	2	54483237	54483237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:54483237C>T	uc002rxr.2	-	0	173	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	ACYP2_uc002rxq.4_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	Homo sapiens TSPY-like 6 (TSPYL6), mRNA.	18					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						TGCGGGTCTTCCAGAGCATAG	0.607000														94			33		0	0	0.006999	0	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22709222	22709222	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:22709222C>T	uc010axw.2	-	10	1175	c.277G>A	c.(277-279)Gag>Aag	p.E93K	abParts_uc001yuj.2_Intron|GOLGA8DP_uc010axx.2_Missense_Mutation_p.E93K|DQ588687_uc010tzw.1_5'Flank|DQ582939_uc021sfj.1_5'Flank					Homo sapiens golgin A8 family, member D, pseudogene (GOLGA8DP), non-coding RNA.																		GCTGGGGGCTCCGGGGGCAGA	0.527000														114			22		0	0	0.003755	0	0
AICDA	57379	broad.mit.edu	37	12	8757938	8757938	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:8757938C>T	uc001qur.2	-	2	379	c.300G>A	c.(298-300)ggG>ggA	p.G100G	AICDA_uc001qup.1_Silent_p.G95G|AICDA_uc001quq.1_Silent_p.G95G|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	100					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GGTTGGGGTTCCCTCGCAGAA	0.672000														22			21		0	0	0.012319	0	0
BRD4	23476	broad.mit.edu	37	19	15349230	15349230	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:15349230G>A	uc002nar.3	-	19	4269	c.4047C>T	c.(4045-4047)ttC>ttT	p.F1349F		NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	1349					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GATCACTCTGGAAATTCATGT	0.458000			T	C15orf55	lethal midline carcinoma of young people									27			18		0	0	0.014323	0	0
PTPRR	5801	broad.mit.edu	37	12	71094984	71094984	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:71094984C>T	uc001swi.2	-	6	1541	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q	PTPRR_uc001swh.2_Missense_Mutation_p.R131Q|PTPRR_uc009zrs.3_Missense_Mutation_p.R170Q|PTPRR_uc010stq.2_Missense_Mutation_p.R264Q|PTPRR_uc010str.1_Missense_Mutation_p.R225Q	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	376					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)		TGTGAGAATTCGGCTGGCTGA	0.463000														5			72		0	0	0.014410	0	0
ZNF799	90576	broad.mit.edu	37	19	12491607	12491607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:12491607G>A	uc002mts.4	-	3	989	c.469C>T	c.(469-471)Cct>Tct	p.P157S				Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	263					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						CTGTAATCAGGGAAGGCTTTA	0.393000														25			21		0	0	0.008871	0	0
NEK11	79858	broad.mit.edu	37	3	130889731	130889731	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:130889731G>A	uc003eny.3	+	14	1725	c.1399_splice	c.e14+1	p.E467_splice	NEK11_uc003enx.3_Splice_Site_p.A467_splice|NEK11_uc003eoa.3_Splice_Site_p.E467_splice|NEK11_uc003enz.3_Splice_Site_p.E285_splice|NEK11_uc011blk.2_Splice_Site_p.E283_splice|NEK11_uc011bll.2_Splice_Site_p.E362_splice|NEK11_uc011blm.2_Splice_Site_p.G467_splice	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 11 (NEK11), transcript variant 1, mRNA.	467					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TGGATACCATGGTATGTGTTT	0.498000														72			46		0	0	0.014410	0	0
DDX20	11218	broad.mit.edu	37	1	112309275	112309275	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:112309275C>T	uc001ebs.3	+	10	2586	c.2229C>T	c.(2227-2229)tcC>tcT	p.S743S	DDX20_uc010owf.2_Silent_p.S505S|DDX20_uc001ebt.3_Silent_p.S351S	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 (DDX20), mRNA.	743					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCGGTCTTCCTTCAGATTGC	0.458000														19			27		0	0	0.004656	0	0
AK5	26289	broad.mit.edu	37	1	77984388	77984388	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:77984388G>A	uc001dhn.3	+	10	1624	c.1287G>A	c.(1285-1287)atG>atA	p.M429I	AK5_uc001dho.3_Missense_Mutation_p.M403I	NM_174858	NP_036225	Q9Y6K8	KAD5_HUMAN	Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA.	429					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	ATP binding|adenylate kinase activity|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	p.I428S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GAGACATTATGGAACGTGGAG	0.468000														51			13		0	0	0.002450	0	0
NCOA2	10499	broad.mit.edu	37	8	71056961	71056961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:71056961G>A	uc003xyn.1	-	12	2890	c.2728C>T	c.(2728-2730)Ccc>Tcc	p.P910S	NCOA2_uc011lfb.1_Intron	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	910					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ACTGAGTAGGGACTACTGTTT	0.468000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""									47			33		0	0	0.003271	0	0
NRIP3	56675	broad.mit.edu	37	11	9009825	9009825	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:9009825G>A	uc001mhg.2	-	1	293	c.179C>T	c.(178-180)cCt>cTt	p.P60L	NRIP3_uc010rbu.1_Missense_Mutation_p.P60L	NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN	Homo sapiens nuclear receptor interacting protein 3 (NRIP3), mRNA.	60					proteolysis		aspartic-type endopeptidase activity			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		AATATTATGAGGTTGCTTGAG	0.507000														10			23		0	0	0.014323	0	0
ZNF536	9745	broad.mit.edu	37	19	30935918	30935918	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:30935918G>A	uc002nsu.1	+	1	1587	c.1449G>A	c.(1447-1449)ggG>ggA	p.G483G	ZNF536_uc010edd.1_Silent_p.G483G	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	483					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)					TCCCGGAGGGGGACAAGCACT	0.657000														43			26		0	0	0.007291	0	0
PCSK2	5126	broad.mit.edu	37	20	17208089	17208089	+	Missense_Mutation	SNP	C	T	T	rs143788251	by1000genomes	TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:17208089C>T	uc002wpm.3	+	0	493	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	PCSK2_uc002wpl.3_Missense_Mutation_p.R28C|PCSK2_uc010zrm.2_Missense_Mutation_p.R47C	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	47					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGACAAAGCTCGCCAAGTTGC	0.537000														19			20		0	0	0.010504	0	0
APOL3	80833	broad.mit.edu	37	22	36556761	36556761	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:36556761C>T	uc003aot.3	-	0	217	c.179G>A	c.(178-180)aGa>aAa	p.R60K	APOL3_uc003aoq.3_5'UTR|APOL3_uc003aor.3_5'UTR|APOL3_uc003aos.3_5'UTR|APOL3_uc003aou.3_5'UTR|APOL3_uc003aov.3_5'UTR	NM_145640	NP_663617	O95236	APOL3_HUMAN	Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA.	60					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TCCAGCTGTTCTGAGCTGTGT	0.507000														39			40		0	0	0.014410	0	0
FAM219A	203259	broad.mit.edu	37	9	34401682	34401682	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:34401682G>A	uc011lok.2	-	4	688	c.381C>T	c.(379-381)tcC>tcT	p.S127S	FAM219A_uc003zuj.3_Silent_p.S110S|FAM219A_uc011lol.2_Silent_p.S116S|FAM219A_uc003zul.3_Silent_p.S99S|FAM219A_uc022bgc.1_Silent_p.S127S|FAM219A_uc022bgd.1_Silent_p.S110S|FAM219A_uc003zuk.3_Silent_p.S99S	NM_001184940	NP_001171869	Q8IW50	CI025_HUMAN	Homo sapiens chromosome 9 open reading frame 25 (C9orf25), transcript variant 1, mRNA.	127																	AGGAGTAGCCGGAGGAGGAGT	0.547000														1			10		0	0	0.013537	0	0
MTDH	92140	broad.mit.edu	37	8	98731362	98731362	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:98731362C>T	uc003yhz.3	+	9	1794	c.1466C>T	c.(1465-1467)tCc>tTc	p.S489F	MTDH_uc010mbf.3_Non-coding_Transcript	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	Homo sapiens metadherin (MTDH), mRNA.	489					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			AAAGCTTTTTCCTTGAAGACC	0.393000														47			32		0	0	0.004878	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136305490	136305490	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:136305490C>T	uc004cdv.4	+	15	2256	c.1812C>T	c.(1810-1812)gtC>gtT	p.V604V	ADAMTS13_uc004cdp.4_5'UTR|ADAMTS13_uc004cdt.1_Silent_p.V604V|ADAMTS13_uc004cdu.1_Silent_p.V573V|ADAMTS13_uc004cdw.4_Silent_p.V604V|ADAMTS13_uc004cdx.4_Silent_p.V573V|ADAMTS13_uc004cdy.1_Non-coding_Transcript|ADAMTS13_uc004cdz.4_Silent_p.V274V|ADAMTS13_uc004cdr.1_Non-coding_Transcript|ADAMTS13_uc004cds.1_Silent_p.V129V	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	604	Spacer.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGCGCTATGTCGTGGCTGGGA	0.622000														6			23		0	0	0.003954	0	0
PSG8	440533	broad.mit.edu	37	19	43268361	43268361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:43268361G>A	uc002ouo.2	-	1	235	c.137C>T	c.(136-138)tCt>tTt	p.S46F	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.S46F|PSG8_uc010ein.3_Intron|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	46	Ig-like V-type.					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)				CTTCCCCTCAGAAACTTTGGT	0.473000														100			83		0	0	0.014410	0	0
PROC	5624	broad.mit.edu	37	2	128186093	128186093	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:128186093C>T	uc002tol.3	+	8	1047	c.1020C>T	c.(1018-1020)tgC>tgT	p.C340C	PROC_uc002tok.3_Silent_p.C319C|PROC_uc010yzi.2_Silent_p.C375C|PROC_uc010yzj.2_Silent_p.C214C|PROC_uc010yzk.2_Silent_p.C374C	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	319	Peptidase S1.		T -> M (in ADPROCD; Vermont-2).		blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	p.T340T(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TGCCCATCTGCCTCCCGGACA	0.657000														51			18		0	0	0.007413	0	0
CSN3	1448	broad.mit.edu	37	4	71114848	71114848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:71114848C>T	uc003hfe.4	+	3	279	c.221C>T	c.(220-222)cCa>cTa	p.P74L		NM_005212	NP_005203	P07498	CASK_HUMAN	Homo sapiens casein kappa (CSN3), mRNA.	74						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ATTAATAATCCATATGTGCCT	0.433000														15			20		0	0	0.007413	0	0
PHF21B	112885	broad.mit.edu	37	22	45312397	45312397	+	Silent	SNP	G	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:45312397G>T	uc003bfn.3	-	3	478	c.327C>A	c.(325-327)ccC>ccA	p.P109P	PHF21B_uc011aqk.2_Silent_p.P97P|PHF21B_uc003bfm.3_5'UTR|PHF21B_uc011aql.2_Silent_p.P109P|PHF21B_uc011aqm.1_Silent_p.P97P	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	109							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GGGCTGGGCTGGGGTTCTTGA	0.716000														185			25		9.04412e-07	1.06668e-06	0.004656	1	0
SCPEP1	59342	broad.mit.edu	37	17	55079448	55079448	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:55079448C>T	uc002iuv.4	+	11	1255	c.1202C>T	c.(1201-1203)gCc>gTc	p.A401V	SCPEP1_uc010dcl.3_Non-coding_Transcript|SCPEP1_uc010wnk.2_Missense_Mutation_p.A351V	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	Homo sapiens serine carboxypeptidase 1 (SCPEP1), mRNA.	401					proteolysis	extracellular region	serine-type carboxypeptidase activity	p.A401T(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					AAGTGGAAGGCCCTGTACAGT	0.483000														7			47		0	0	0.014410	0	0
SLC30A6	55676	broad.mit.edu	37	2	32445306	32445306	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:32445306C>T	uc002rof.2	+	14	1090	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*	SLC30A6_uc002roe.2_Nonsense_Mutation_p.R304*|SLC30A6_uc010ymw.2_Nonsense_Mutation_p.R275*|SLC30A6_uc010ezr.2_Nonsense_Mutation_p.R281*|SLC30A6_uc002rog.2_Nonsense_Mutation_p.R107*|SLC30A6_uc010ezs.2_Nonsense_Mutation_p.R230*|SLC30A6_uc002roh.2_Nonsense_Mutation_p.R107*	NM_001193513	NP_001180442	Q6NXT4	ZNT6_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 6 (SLC30A6), transcript variant 1, mRNA.	304						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity	p.R304*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGTAAGAATTCGACGAGATGC	0.353000														42			10		0	0	0.010729	0	0
TPTE2	93492	broad.mit.edu	37	13	20048194	20048194	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:20048194G>A	uc001umd.3	-	6	463	c.252C>T	c.(250-252)gtC>gtT	p.V84V	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Silent_p.V47V|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	84						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CATCCAGTAAGACCAGGAAAA	0.308000														19			26		0	0	0.003954	0	0
SSRP1	6749	broad.mit.edu	37	11	57099631	57099631	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:57099631G>A	uc001njt.3	-	7	1263	c.996C>T	c.(994-996)ttC>ttT	p.F332F		NM_003146	NP_003137	Q08945	SSRP1_HUMAN	Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA.	332					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CTCACCCTTGGAAGTTGCCTG	0.562000														14			21		0	0	0.014323	0	0
ZNF561	93134	broad.mit.edu	37	19	9721792	9721792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:9721792G>A	uc002mlu.3	-	5	750	c.545C>T	c.(544-546)cCa>cTa	p.P182L	ZNF561_uc010dwu.3_Missense_Mutation_p.P113L|ZNF561_uc010xkr.2_Missense_Mutation_p.P46L	NM_152289	NP_689502	Q8N587	ZN561_HUMAN	Homo sapiens zinc finger protein 561 (ZNF561), mRNA.	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						AGCAAGACCTGGAGTTAGAGT	0.388000														24			26		0	0	0.003330	0	0
TBC1D9	23158	broad.mit.edu	37	4	141590897	141590897	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:141590897G>A	uc010ioj.3	-	7	1600	c.1328C>T	c.(1327-1329)gCt>gTt	p.A443V		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	443						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTCTCCATCAGCATCAGAGCT	0.572000														24			4		0	0	0.000602	0	0
C6	729	broad.mit.edu	37	5	41181543	41181543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:41181543G>A	uc003jmk.2	-	6	1055	c.845C>T	c.(844-846)cCa>cTa	p.P282L	C6_uc003jml.1_Missense_Mutation_p.P282L	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	282	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATAAAAAATTGGTACACTGAA	0.373000														44			24		0	0	0.003330	0	0
CCDC11	220136	broad.mit.edu	37	18	47788448	47788448	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr18:47788448C>T	uc002lee.2	-	1	302	c.211G>A	c.(211-213)Gac>Aac	p.D71N		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	71										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		ATCTTGCAGTCATTGTGCTGG	0.443000														71			36		0	0	0.006230	0	0
PCCA	5095	broad.mit.edu	37	13	100982855	100982855	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:100982855C>T	uc001voo.3	+	16	1576	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	PCCA_uc010aga.3_Silent_p.I464I|PCCA_uc010tiz.2_Silent_p.I490I	NM_000282	NP_000273	P05165	PCCA_HUMAN	Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	490	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AGGTGATAATCAACTCACGCT	0.313000														12			15		0	0	0.004007	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					84			28		0	0	0.008361	0	0
ABCA12	26154	broad.mit.edu	37	2	215865705	215865705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:215865705C>T	uc002vew.3	-	21	3123	c.2903G>A	c.(2902-2904)aGa>aAa	p.R968K	ABCA12_uc002vev.3_Missense_Mutation_p.R650K|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.	968					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)		GTCATAGCCTCTGTGCCAGCT	0.393000														51			15		0	0	0.002450	0	0
abParts	0	broad.mit.edu	37	22	22681916	22681916	+	RNA	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:22681916C>T	uc021wml.1	+	38		c.3992C>T								Parts of antibodies, mostly variable regions.																		TCTGGGGCCCCAGGGCAGAGG	0.592000														114			56		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179641389	179641389	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:179641389C>T	uc021vsy.1	-	27	5427	c.5202G>A	c.(5200-5202)atG>atA	p.M1734I	TTN_uc021vsz.1_Missense_Mutation_p.M1688I|TTN_uc021vta.1_Missense_Mutation_p.M1688I|TTN_uc021vtb.1_Missense_Mutation_p.M1688I|TTN_uc002unb.2_Missense_Mutation_p.M1734I|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1734	Ig-like 8.						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)			ACTCCACCACCATCGTTGGGT	0.473000														32			11		0	0	0.010729	0	0
ZNF665	79788	broad.mit.edu	37	19	53669091	53669091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:53669091G>A	uc010eqm.1	-	3	752	c.652C>T	c.(652-654)Cgt>Tgt	p.R218C		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AGGTTTGAACGAACAGTAAAG	0.408000														57			35		0	0	0.003755	0	0
S100G	795	broad.mit.edu	37	X	16669154	16669154	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chrX:16669154G>A	uc004cxn.1	+	1	79	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	CTPS2_uc004cxk.3_Intron|CTPS2_uc004cxl.3_Intron|CTPS2_uc004cxm.3_Intron	NM_004057	NP_004048	P29377	S100G_HUMAN	Homo sapiens S100 calcium binding protein G (S100G), mRNA.	9							calcium ion binding|vitamin D binding			large_intestine(1)|lung(1)	2	Hepatocellular(33;0.0997)					GTCTCCTGAGGAACTGAAGAG	0.393000														4			41		0	0	0.006999	0	0
XKR5	389610	broad.mit.edu	37	8	6690401	6690401	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:6690401T>C	uc022aqv.1	-	1	231	c.80A>G	c.(79-81)tAc>tGc	p.Y27C	XKR5_uc003wqq.3_5'UTR|LOC100652791_uc022aqw.1_5'Flank	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA.	27						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGTGGTGAAGTAGTAAGCCAC	0.577000														13			14		0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179584052	179584052	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:179584052C>T	uc021vsy.1	-	79	20558	c.20333G>A	c.(20332-20334)gGa>gAa	p.G6778E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G3439E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7705	Ig-like 49.						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)			AATCTCATTTCCATCCTGAAA	0.512000														32			74		0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9072540	9072540	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:9072540G>A	uc002mkp.3	-	2	15110	c.14906C>T	c.(14905-14907)tCt>tTt	p.S4969F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4971	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						TATTTCTGCAGATTCTGTCAT	0.502000														27			38		0	0	0.007835	0	0
OR8G1	26494	broad.mit.edu	37	11	124120862	124120862	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:124120862G>A	uc001pzx.3	+	0	440	c.440G>A	c.(439-441)gGg>gAg	p.G147E		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	147					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)		CTGATTTTAGGGGTGTATATA	0.403000														18			36		0	0	0.003271	0	0
KNDC1	85442	broad.mit.edu	37	10	134999585	134999585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:134999585G>A	uc001llz.1	+	5	734	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	KNDC1_uc001lma.1_Missense_Mutation_p.G180S	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	245					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)		GACCCCCGAAGGCCCGGAGTC	0.716000														4			8		0	0	0.004482	0	0
MTMR14	64419	broad.mit.edu	37	3	9739528	9739528	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:9739528G>A	uc003brz.3	+	17	1898	c.1747G>A	c.(1747-1749)Gat>Aat	p.D583N	MTMR14_uc003bsa.3_Intron|MTMR14_uc003bsb.3_Intron|MTMR14_uc011ath.2_Non-coding_Transcript|MTMR14_uc010hcl.3_Intron|MTMR14_uc003bsc.3_Non-coding_Transcript|MTMR14_uc021wss.1_Intron	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA.	583						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					CAGCTTCCCGGATGAGCTCCC	0.567000														17			99		0	0	0.014410	0	0
FSTL5	56884	broad.mit.edu	37	4	162421188	162421188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:162421188C>T	uc003iqh.3	-	11	1874	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	FSTL5_uc003iqi.3_Missense_Mutation_p.E479K|FSTL5_uc010iqv.3_Missense_Mutation_p.E470K	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	480						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AGGAGCTTTTCACTAGGCTTA	0.338000														2			9		0	0	0.008291	0	0
PDILT	204474	broad.mit.edu	37	16	20386275	20386275	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:20386275C>T	uc002dhc.1	-	4	773	c.550G>A	c.(550-552)Gag>Aag	p.E184K		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	184					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						ACTTCTTCCTCTAAATCCTAT	0.433000														58			40		0	0	0.014410	0	0
SATB2	23314	broad.mit.edu	37	2	200193516	200193516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:200193516G>A	uc002uuy.2	-	7	2108	c.1291C>T	c.(1291-1293)Cgc>Tgc	p.R431C	SATB2_uc010fsq.2_Missense_Mutation_p.R313C|SATB2_uc002uva.2_Missense_Mutation_p.R431C|SATB2_uc002uuz.2_Missense_Mutation_p.R431C	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	431						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.R431H(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGGTAGATGCGATCTCGCTCC	0.562000														48			12		0	0	0.010729	0	0
DAOA	267012	broad.mit.edu	37	13	106119401	106119401	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:106119401G>A	uc001vqb.3	+	2	319	c.45_splice	c.e2-1	p.R15_splice	DAOA-AS1_uc021rmh.1_Intron|DAOA_uc010tjf.2_5'UTR|DAOA_uc001vpz.3_Non-coding_Transcript|DAOA_uc010agd.3_Splice_Site|DAOA_uc010tjg.2_5'UTR|DAOA_uc001vqc.3_Splice_Site|DAOA_uc001vqe.3_5'Flank	NM_172370	NP_001155286	P59103	DAOA_HUMAN	Homo sapiens D-amino acid oxidase activator (DAOA), transcript variant 1, mRNA.	15						Golgi apparatus				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TTAATTTTTAGATCCAGATAT	0.333000														11			26		0	0	0.003954	0	0
FAM26E	254228	broad.mit.edu	37	6	116836980	116836980	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:116836980C>T	uc003pwy.3	+	1	810	c.758C>T	c.(757-759)cCt>cTt	p.P253L	BET3L_uc011ebh.2_Intron	NM_153711	NP_714922	Q8N5C1	FA26E_HUMAN	Homo sapiens family with sequence similarity 26, member E (FAM26E), mRNA.	253						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		AGGCCAGATCCTTTTCCCATG	0.483000														6			39		0	0	0.009718	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001407	52001407	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:52001407G>A	uc002pwx.1	-	4	1326	c.1270C>T	c.(1270-1272)Cag>Tag	p.Q424*	SIGLEC12_uc002pww.1_Nonsense_Mutation_p.Q306*|SIGLEC12_uc010eoy.1_Nonsense_Mutation_p.Q151*	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	424	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding	p.Q424*(2)		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)		TTCGAGGACTGTGAGGGGCTC	0.622000														20			16		0	0	0.007413	0	0
SF3B14	51639	broad.mit.edu	37	2	24296976	24296976	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:24296976C>T	uc002rev.3	-	1	334	c.119G>A	c.(118-120)gGg>gAg	p.G40E	LOC375190_uc002rew.3_5'Flank|SF3B14_uc010eyb.3_Intron	NM_016047	NP_057131	Q9Y3B4	PM14_HUMAN	Homo sapiens splicing factor 3B, 14 kDa subunit (SF3B14), mRNA.	40	RRM.				nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCATATTTCCCAAATATATC	0.318000														13			26		0	0	0.007291	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25314516	25314516	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:25314516C>T	uc003grl.4	+	0	121	c.85C>T	c.(85-87)Ctt>Ttt	p.L29F		NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 4 (ZCCHC4), mRNA.	29							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GGAGGTGGTGCTTCCTTTGGA	0.677000											OREG0016141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		62			17		0	0	0.008871	0	0
AP2A2	161	broad.mit.edu	37	11	993865	993865	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:993865G>A	uc001lst.2	+	12	1878	c.1665G>A	c.(1663-1665)gtG>gtA	p.V555V	AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Silent_p.V554V|AP2A2_uc009ycq.1_Silent_p.V145V	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	554					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|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCCCGGAGGTGAAGCCCACCA	0.637000														1			6		0	0	0.001168	0	0
UNC13C	440279	broad.mit.edu	37	15	54707203	54707203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:54707203G>A	uc021smr.1	+	16	4865	c.4865G>A	c.(4864-4866)gGa>gAa	p.G1622E	UNC13C_uc021sms.1_Missense_Mutation_p.G1624E|UNC13C_uc002acl.3_Missense_Mutation_p.G454E	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1624					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.N1622N(1)|p.G1624E(1)		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)		CTGAACATGGGAAAAATAAGT	0.299000														22			17		0	0	0.002780	0	0
C1orf114	57821	broad.mit.edu	37	1	169388371	169388371	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:169388371C>T	uc001gga.1	-	3	1263	c.1095G>A	c.(1093-1095)gaG>gaA	p.E365E	C1orf114_uc001gfz.1_Silent_p.E365E|C1orf114_uc009wvq.1_Silent_p.E365E|C1orf114_uc001ggb.3_Silent_p.E365E	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	365										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					TTTTTTCTTTCTCTTCTTCTA	0.323000														13			7		0	0	0.001984	0	0
TG	7038	broad.mit.edu	37	8	133953646	133953646	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:133953646C>T	uc003ytw.3	+	25	5133	c.5092C>T	c.(5092-5094)Caa>Taa	p.Q1698*	TG_uc010mdw.3_Nonsense_Mutation_p.Q457*|TG_uc011ljb.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1698					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.Q1698P(1)		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)		CACTGGTTTCCAAAACATGCT	0.473000														63			40		0	0	0.011902	0	0
TTN	7273	broad.mit.edu	37	2	179431955	179431955	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:179431955C>T	uc021vsy.1	-	274	71425	c.71200G>A	c.(71200-71202)Gaa>Aaa	p.E23734K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E17429K|TTN_uc021vta.1_Missense_Mutation_p.E17362K|TTN_uc021vtb.1_Missense_Mutation_p.E17237K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24661	Fibronectin type-III 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)			GAGCATTTTTCAGAAGTGACT	0.443000														145			33		0	0	0.013726	0	0
DHX36	170506	broad.mit.edu	37	3	154027598	154027598	+	Silent	SNP	T	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:154027598T>C	uc003ezy.4	-	4	738	c.657A>G	c.(655-657)ttA>ttG	p.L219L	DHX36_uc010hvq.3_Silent_p.L219L|DHX36_uc003ezz.4_Silent_p.L219L	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	219	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GGTTATCAATTAAATTTACCA	0.308000														2			9		0	0	0.004482	0	0
CYP4A11	1579	broad.mit.edu	37	1	47403731	47403731	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:47403731C>T	uc001cqp.4	-	1	325	c.274G>A	c.(274-276)Gga>Aga	p.G92R	CYP4A11_uc001cqq.2_Missense_Mutation_p.G92R|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	92					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	ACTTTGCCTCCCCATAGCCAA	0.507000														30			66		0	0	0.014410	0	0
NPAS4	266743	broad.mit.edu	37	11	66190383	66190383	+	Silent	SNP	A	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:66190383A>G	uc001ohx.1	+	3	845	c.669A>G	c.(667-669)aaA>aaG	p.K223K	NPAS4_uc010rpc.1_Missense_Mutation_p.K50R	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	223	PAS 2.				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						GCCATGCTAAAGACCTGGCTC	0.602000														14			13		0	0	0.001855	0	0
SPTA1	6708	broad.mit.edu	37	1	158604384	158604384	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:158604384C>T	uc001fst.1	-	38	5713	c.5514G>A	c.(5512-5514)aaG>aaA	p.K1838K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1838					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)					CCAAAGCATTCTTTTCATTGA	0.408000														19			37		0	0	0.008740	0	0
LATS2	26524	broad.mit.edu	37	13	21557379	21557379	+	Silent	SNP	G	A	A	rs139454181	byFrequency	TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:21557379G>A	uc009zzs.3	-	4	2831	c.2466C>T	c.(2464-2466)tcC>tcT	p.S822S	LATS2_uc001unr.4_Silent_p.S822S	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	822	Protein kinase.				G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGTAATATTTGGAATTGTGAG	0.423000														31			13		0	0	0.002450	0	0
CSMD1	64478	broad.mit.edu	37	8	2944702	2944702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:2944702C>T	uc022aqr.1	-	48	7781	c.7391G>A	c.(7390-7392)cGa>cAa	p.R2464Q	CSMD1_uc011kwj.2_Missense_Mutation_p.R1794Q|CSMD1_uc010lrg.3_Missense_Mutation_p.R533Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2465	Sushi 14.					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)		GCCGACCATTCGGTATCCAGG	0.517000														23			33		0	0	0.013726	0	0
SPATA25	128497	broad.mit.edu	37	20	44516183	44516183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:44516183G>A	uc002xqf.3	-	0	56	c.47C>T	c.(46-48)tCc>tTc	p.S16F		NM_080608	NP_542175	Q9BR10	CT165_HUMAN	Homo sapiens spermatogenesis associated 25 (SPATA25), mRNA.	16						integral to membrane											ACCTTGGCCGGAAGGCAGAGG	0.612000														25			14		0	0	0.001855	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42363655	42363655	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:42363655C>T	uc001zox.3	-	15	1763	c.1668G>A	c.(1666-1668)aaG>aaA	p.K556K		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	556	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)		AGCTCCTGGTCTTGTCCTTGA	0.562000														31			27		0	0	0.004656	0	0
MORC1	27136	broad.mit.edu	37	3	108822720	108822720	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:108822720C>T	uc003dxl.3	-	3	286	c.199G>A	c.(199-201)Gat>Aat	p.D67N	MORC1_uc011bhn.2_Missense_Mutation_p.D67N	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	67					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CATCCATCATCCAGGAAACAC	0.363000														45			29		0	0	0.004289	0	0
GPRC6A	222545	broad.mit.edu	37	6	117114072	117114072	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:117114072G>A	uc003pxj.1	-	5	2036	c.2014C>T	c.(2014-2016)Ctt>Ttt	p.L672F	GPRC6A_uc003pxk.1_Missense_Mutation_p.L497F|GPRC6A_uc003pxl.1_Missense_Mutation_p.L601F	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	672					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)		GAGATGCAAAGAGTAAAGCTC	0.408000														5			15		0	0	0.003163	0	0
PCSK1	5122	broad.mit.edu	37	5	95746650	95746650	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:95746650C>T	uc003kls.2	-	7	1162	c.923G>A	c.(922-924)gGa>gAa	p.G308E	PCSK1_uc010jbi.2_Intron|PCSK1_uc021ybq.1_Missense_Mutation_p.G261E	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	308	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)	CCCCCCGTTTCCCGAAGCCCA	0.512000														13			81		0	0	0.014410	0	0
UGGT1	56886	broad.mit.edu	37	2	128867245	128867245	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:128867245C>T	uc002tps.3	+	4	624	c.446C>T	c.(445-447)tCg>tTg	p.S149L	UGGT1_uc010fme.1_Missense_Mutation_p.S24L|UGGT1_uc002tpr.3_Missense_Mutation_p.S125L	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	149					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGATGTAATTCGTTTTTTTCA	0.373000														16			35		0	0	0.006230	0	0
CSMD3	114788	broad.mit.edu	37	8	113960107	113960107	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:113960107C>T	uc003ynu.3	-	9	1580	c.1421_splice	c.e9-1	p.L474_splice	CSMD3_uc003ynt.3_Splice_Site_p.L434_splice|CSMD3_uc011lhx.2_Splice_Site_p.L370_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	474						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						CCCTCATTTACTGCAACAGCA	0.284000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				19			17		0	0	0.006122	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111785312	111785312	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:111785312C>T	uc010hqb.2	+	10	1421	c.1251C>T	c.(1249-1251)gaC>gaT	p.D417D	TMPRSS7_uc011bhr.1_Silent_p.D272D	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	543	CUB 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCTTCAGGGACTGTGAGAATG	0.478000														52			42		0	0	0.006999	0	0
ADH1B	125	broad.mit.edu	37	4	100239320	100239320	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:100239320G>A	uc003hus.4	-	2	226	c.142C>T	c.(142-144)Cac>Tac	p.H48Y	ADH1B_uc003hut.4_Missense_Mutation_p.H8Y|ADH1B_uc011ceh.2_5'UTR|ADH1B_uc011cei.1_Missense_Mutation_p.H8Y	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	48			R -> H (in beta-2; allele ADH1B*2; common in Asian populations; associated with a lower risk of alcoholism; dbSNP:rs1229984).		ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCATCTGTGTGACAGATTCCT	0.458000														33			44		0	0	0.013114	0	0
ADCY8	114	broad.mit.edu	37	8	131916094	131916094	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:131916094C>T	uc003ytd.4	-	6	2091	c.1835G>A	c.(1834-1836)aGa>aAa	p.R612K	ADCY8_uc010mds.3_Missense_Mutation_p.R612K	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	612					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	p.R612I(2)		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)			CCCACTGTTTCTCCGGTCTGA	0.478000										HNSCC(32;0.087)				31			45		0	0	0.009718	0	0
FLG2	388698	broad.mit.edu	37	1	152326351	152326351	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:152326351C>T	uc001ezw.4	-	2	3984	c.3911G>A	c.(3910-3912)gGa>gAa	p.G1304E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1304							calcium ion binding|structural molecule activity	p.G1304A(2)		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)			AACTGTGGATCCTGACTTTGG	0.478000														58			116		0	0	0.014410	0	0
FAM219A	203259	broad.mit.edu	37	9	34401684	34401684	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:34401684A>G	uc011lok.2	-	4	686	c.379T>C	c.(379-381)Tcc>Ccc	p.S127P	FAM219A_uc003zuj.3_Missense_Mutation_p.S110P|FAM219A_uc011lol.2_Missense_Mutation_p.S116P|FAM219A_uc003zul.3_Missense_Mutation_p.S99P|FAM219A_uc022bgc.1_Missense_Mutation_p.S127P|FAM219A_uc022bgd.1_Missense_Mutation_p.S110P|FAM219A_uc003zuk.3_Missense_Mutation_p.S99P	NM_001184940	NP_001171869	Q8IW50	CI025_HUMAN	Homo sapiens chromosome 9 open reading frame 25 (C9orf25), transcript variant 1, mRNA.	127																	GAGTAGCCGGAGGAGGAGTAT	0.557000														1			10		0	0	0.013537	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074463	106074463	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:106074463C>T	uc001kyf.3	-	2	1800	c.1347G>A	c.(1345-1347)tgG>tgA	p.W449*	ITPRIP_uc001kye.3_Nonsense_Mutation_p.W449*|ITPRIP_uc001kyg.3_Nonsense_Mutation_p.W449*|ITPRIP_uc021pxv.1_Nonsense_Mutation_p.W449*	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	449						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCCCCGCCTTCCAGTCGGCGG	0.637000														14			20		0	0	0.010504	0	0
COBLL1	22837	broad.mit.edu	37	2	165552277	165552277	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:165552277G>T	uc002ucp.3	-	11	1961	c.1739C>A	c.(1738-1740)aCa>aAa	p.T580K	COBLL1_uc002ucq.3_Missense_Mutation_p.T542K|COBLL1_uc010zcw.2_Missense_Mutation_p.T647K|COBLL1_uc010zcx.2_Missense_Mutation_p.T588K|COBLL1_uc002ucn.3_Missense_Mutation_p.T8K|COBLL1_uc002uco.3_Missense_Mutation_p.T311K	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	618										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						ATTGATTTCTGTTTTCTTCAC	0.318000														61			27		4.7796e-09	5.65207e-09	0.004656	1	0
C8orf31	286122	broad.mit.edu	37	8	144126123	144126123	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:144126123G>A	uc003yxp.1	+	3	596	c.244G>A	c.(244-246)Gga>Aga	p.G82R	C8orf31_uc003yxq.1_Non-coding_Transcript|C8orf31_uc003yxr.1_Non-coding_Transcript	NM_173687	NP_775958	Q8N9H6	CH031_HUMAN	Homo sapiens chromosome 8 open reading frame 31 (C8orf31), mRNA.	82										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCACTTTCTGGGAGACACAGA	0.622000														26			24		0	0	0.007291	0	0
TTN	7273	broad.mit.edu	37	2	179658259	179658259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:179658259C>T	uc021vsy.1	-	8	1633	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	TTN_uc021vsz.1_Missense_Mutation_p.E470K|TTN_uc021vta.1_Missense_Mutation_p.E470K|TTN_uc021vtb.1_Missense_Mutation_p.E470K|TTN_uc002unb.2_Missense_Mutation_p.E470K|TTN_uc010frg.1_Missense_Mutation_p.E144K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	470							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)			TTCTCCGCTTCCTTTCTTACC	0.398000														44			12		0	0	0.001855	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033577	82033577	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:82033577G>A	uc002fgu.3	-	2	449	c.321C>T	c.(319-321)ctC>ctT	p.L107L		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	107					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GGCAAACCTGGAGGATGTTGT	0.473000														48			37		0	0	0.006999	0	0
KCNV1	27012	broad.mit.edu	37	8	110984919	110984919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:110984919C>T	uc003ynr.4	-	1	1363	c.559G>A	c.(559-561)Gga>Aga	p.G187R	KCNV1_uc010mcw.3_Missense_Mutation_p.G187R	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	187						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.Q186K(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GGACAAGGTCCTTGGGAGAAG	0.468000														34			31		0	0	0.010818	0	0
UTS2D	257313	broad.mit.edu	37	3	190995954	190995954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:190995954C>T	uc003fsu.3	-	5	896	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K		NM_198152	NP_937795	Q765I0	UTS2B_HUMAN	Homo sapiens urotensin 2 domain containing (UTS2D), mRNA.	37						extracellular region	hormone activity			lung(5)|skin(1)|stomach(2)	8	all_cancers(143;1.77e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000214)		GGAAATATTTCATTTCCTATA	0.294000														10			7		0	0	0.001984	0	0
TNIK	23043	broad.mit.edu	37	3	170786636	170786636	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:170786636C>T	uc003fhh.2	-	30	4044	c.3699_splice	c.e30+1	p.H1233_splice	TNIK_uc003fhi.2_Splice_Site_p.H1178_splice|TNIK_uc003fhj.2_Splice_Site_p.H1204_splice|TNIK_uc003fhk.2_Splice_Site_p.H1225_splice|TNIK_uc003fhl.2_Splice_Site_p.H1149_splice|TNIK_uc003fhm.2_Splice_Site_p.H1170_splice|TNIK_uc003fhn.2_Splice_Site_p.H1196_splice|TNIK_uc003fho.2_Splice_Site_p.H1141_splice|TNIK_uc003fhg.2_Splice_Site_p.H411_splice|TNIK_uc003fhp.3_Splice_Site_p.H165_splice	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	1233	CNH.				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)			TGAGTACTTACATGAGATGGT	0.358000														13			13		0	0	0.013537	0	0
HCRTR2	3062	broad.mit.edu	37	6	55128600	55128600	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:55128600C>T	uc003pcl.3	+	3	1057	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.R183C	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	248					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.R248C(2)		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)			GCAAATATTTCGCAAACTCTG	0.373000														20			6		0	0	0.001168	0	0
TNS1	7145	broad.mit.edu	37	2	218712975	218712975	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:218712975G>A	uc002vgt.2	-	16	2288	c.1890C>T	c.(1888-1890)ccC>ccT	p.P630P	TNS1_uc002vgr.2_Silent_p.P630P|TNS1_uc002vgs.2_Silent_p.P630P|TNS1_uc010zjv.1_Silent_p.P630P|TNS1_uc010fvj.1_Silent_p.P698P|TNS1_uc010fvk.1_Silent_p.P755P|TNS1_uc010fvi.1_Silent_p.P317P	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	630						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)		CCGGAGCTGGGGGCAGCTGGG	0.647000														20			39		0	0	0.008740	0	0
LRCH4	4034	broad.mit.edu	37	7	100179958	100179958	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:100179958G>A	uc003uvj.3	-	1	398	c.345C>T	c.(343-345)gcC>gcT	p.A115A	LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	115					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTAGGTGAGGGCTGTGAGAT	0.627000														58			31		0	0	0.003271	0	0
UBR4	23352	broad.mit.edu	37	1	19477069	19477069	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:19477069A>G	uc001bbi.3	-	49	7434	c.7430_splice	c.e49+1	p.R2477_splice	UBR4_uc001bbk.1_Splice_Site_p.R131_splice	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2477					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCACTGGTACCTCTCCAGG	0.517000														59			16		0	0	0.003163	0	0
OR2A25	392138	broad.mit.edu	37	7	143771369	143771369	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:143771369C>T	uc011ktx.2	+	0	57	c.57C>T	c.(55-57)ggC>ggT	p.G19G		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TTCCCATTGGCCCAAGGATTC	0.498000														49			98		0	0	0.014410	0	0
GPR113	165082	broad.mit.edu	37	2	26536365	26536365	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:26536365G>A	uc002rhe.4	-	8	1353	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A	GPR113_uc010yky.1_Silent_p.A382A|GPR113_uc002rhb.1_Silent_p.A54A|GPR113_uc010eyk.1_Silent_p.A252A|GPR113_uc002rhc.1_Silent_p.A54A|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	451					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGACATGGGGCCTGTGCCA	0.632000														6			7		0	0	0.001984	0	0
CD36	948	broad.mit.edu	37	7	80303373	80303373	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:80303373G>A	uc003uhc.3	+	16	2013	c.1329G>A	c.(1327-1329)ctG>ctA	p.L443L	CD36_uc011kgv.2_Silent_p.L367L|CD36_uc003uhd.4_Silent_p.L443L|CD36_uc003uhe.4_Silent_p.L443L|CD36_uc003uhf.4_Silent_p.L443L|CD36_uc003uhg.4_Silent_p.L443L|CD36_uc003uhh.4_Silent_p.L443L|CD36_uc022agu.1_Silent_p.L404L|CD36_uc022agv.1_Silent_p.L383L	NM_001127444	NP_001120916	P16671	CD36_HUMAN	Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.	443					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						TCCTTGGCCTGATAGAAATGA	0.348000														16			27		0	0	0.004656	0	0
FCRL3	115352	broad.mit.edu	37	1	157665985	157665985	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:157665985C>T	uc001fqz.4	-	6	1269	c.977G>A	c.(976-978)gGa>gAa	p.G326E	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Missense_Mutation_p.G52E|FCRL3_uc001frb.3_Missense_Mutation_p.G326E|FCRL3_uc001frc.1_Missense_Mutation_p.G326E	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	326	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCTTACTCTTCCTTCTTTGTG	0.527000														23			32		0	0	0.003755	0	0
SAC3D1	29901	broad.mit.edu	37	11	64812189	64812189	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:64812189C>A	uc001ocm.3	+	1	1456	c.1067C>A	c.(1066-1068)tCc>tAc	p.S356Y		NM_013299	NP_037431			Homo sapiens SAC3 domain containing 1 (SAC3D1), mRNA.											endometrium(2)|lung(1)	3						AGACCTGGGTCCCCAGCCTGA	0.562000														15			28		4.22769e-11	5.02601e-11	0.006320	1	0
SASH1	23328	broad.mit.edu	37	6	148840834	148840834	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:148840834C>T	uc003qme.1	+	9	1489	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	SASH1_uc011eeb.1_Silent_p.S99S	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	338							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CTCCATCCTCCAGCAGCCTGG	0.572000														8			39		0	0	0.009718	0	0
EBF2	64641	broad.mit.edu	37	8	25899683	25899683	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:25899683C>T	uc003xes.2	-	1	481	c.216G>A	c.(214-216)gcG>gcA	p.A72A	DOCK5_uc003xek.3_Intron|EBF2_uc003xet.2_Silent_p.A72A	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	72					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TGTCATAGAGCGCCAGGACGA	0.577000														46			29		0	0	0.007291	0	0
APOA4	337	broad.mit.edu	37	11	116692476	116692476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:116692476C>T	uc001pps.1	-	2	402	c.298G>A	c.(298-300)Gag>Aag	p.E100K		NM_000482	NP_000473			Homo sapiens apolipoprotein A-IV (APOA4), mRNA.											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		ccaatctcctccttcagtttc	0.592000														68			98		0	0	0.014410	0	0
PRRG2	5639	broad.mit.edu	37	19	50086873	50086873	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:50086873G>A	uc002pon.3	+	2	325	c.160G>A	c.(160-162)Gac>Aac	p.D54N	PRRG2_uc010yaz.1_Missense_Mutation_p.D31N	NM_000951	NP_000942	O14669	TMG2_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 2 (PRRG2), mRNA.	54	Gla.					extracellular region|integral to plasma membrane	calcium ion binding			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		CAACCACTGGGACCTGGAGCT	0.572000														76			61		0	0	0.014410	0	0
abParts	0	broad.mit.edu	37	14	107048861	107048861	+	RNA	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr14:107048861C>T	uc021ser.1	-	169		c.7169G>A								Parts of antibodies, mostly variable regions.																		GGACCCAGCTCATGTAGTTGC	0.592000														5			51		0	0	0.014410	0	0
VWF	7450	broad.mit.edu	37	12	6135213	6135213	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:6135213C>T	uc001qnn.1	-	23	3218	c.2968_splice	c.e23-1	p.E990_splice	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	990	VWFD 3.				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)	ACACTTTCTCCTTGAGAGACA	0.562000														47			44		0	0	0.014410	0	0
DCC	1630	broad.mit.edu	37	18	50683792	50683792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr18:50683792G>A	uc002lfe.2	+	7	1944	c.1328G>A	c.(1327-1329)cGa>cAa	p.R443Q	DCC_uc010xdr.1_Missense_Mutation_p.R291Q|DCC_uc010dpf.2_Missense_Mutation_p.R98Q	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	443	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R443Q(4)		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)		GTTTCCAGCCGATTTGTCCGT	0.527000														70			31		0	0	0.005524	0	0
C16orf46	123775	broad.mit.edu	37	16	81095627	81095627	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:81095627G>A	uc002fgc.4	-	3	586	c.327C>T	c.(325-327)tcC>tcT	p.S109S	C16orf46_uc010chf.3_Silent_p.S109S|C16orf46_uc010vno.2_5'UTR	NM_152337	NP_689550	Q6P387	CP046_HUMAN	Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.	109								p.S109F(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GGCTCCAGTGGGAGAGGTTAA	0.627000														60			54		0	0	0.014410	0	0
OR8D4	338662	broad.mit.edu	37	11	123777259	123777259	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:123777259G>A	uc010saa.2	+	0	121	c.121G>A	c.(121-123)Gga>Aga	p.G41R		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	41					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)		TACTGTGGTGGGAAACCTCAG	0.413000														19			37		0	0	0.009718	0	0
ADAM2	2515	broad.mit.edu	37	8	39627040	39627040	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:39627040A>T	uc003xnj.3	-	11	1158	c.1083T>A	c.(1081-1083)caT>caA	p.H361Q	ADAM2_uc003xnk.3_Missense_Mutation_p.H342Q|ADAM2_uc011lck.2_Missense_Mutation_p.H361Q|ADAM2_uc003xnl.3_Missense_Mutation_p.H235Q	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	361	Peptidase M12B.				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)		TTGAAATAAAATGTGCAAAGT	0.393000														19			13		0	0	0.002450	0	0
CDH9	1007	broad.mit.edu	37	5	26915903	26915903	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:26915903C>T	uc003jgs.1	-	2	527	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	CDH9_uc010iug.3_Missense_Mutation_p.E120K	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	120	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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						AGAGATTTTTCTTCTCTGTCT	0.373000														70			56		0	0	0.014410	0	0
NLRP8	126205	broad.mit.edu	37	19	56481909	56481909	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:56481909G>A	uc002qmh.3	+	6	2453	c.2382_splice	c.e6-1	p.R794_splice	NLRP8_uc010etg.3_Splice_Site_p.R794_splice	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	794						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)		GGCTTCTACAGGTTGGAAGAC	0.463000														87			62		0	0	0.014410	0	0
PCDH12	51294	broad.mit.edu	37	5	141325235	141325235	+	Missense_Mutation	SNP	G	T	T	rs141387550		TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:141325235G>T	uc003llx.3	-	3	4477	c.3266C>A	c.(3265-3267)aCg>aAg	p.T1089K		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	1089					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGCCGAACGTCTGGAAGGT	0.607000														7			32		2.85442e-18	3.41613e-18	0.010818	1	0
ZNF493	284443	broad.mit.edu	37	19	21606298	21606298	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:21606298C>T	uc002npw.3	+	3	956	c.837C>T	c.(835-837)taC>taT	p.Y279Y	ZNF493_uc002npx.3_Silent_p.Y151Y|ZNF493_uc002npy.3_Silent_p.Y151Y|ZNF493_uc021urq.1_Silent_p.Y151Y	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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						AATTCTCATACCTTACTAGGC	0.358000														28			21		0	0	0.014323	0	0
FAM55A	120400	broad.mit.edu	37	11	114393163	114393163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:114393163C>T	uc001ppa.3	-	5	1162	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	FAM55A_uc010rxd.2_Missense_Mutation_p.E98K	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	Homo sapiens family with sequence similarity 55, member A (FAM55A), mRNA.	391						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	17		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		GTGTGTCTTTCTGCATCCAGA	0.338000														38			16		0	0	0.003163	0	0
LOC100101266	100101266	broad.mit.edu	37	19	24345978	24345978	+	RNA	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:24345978C>T	uc010edb.1	-	0		c.272G>A								Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA.																		AAAGGGACATCCCTTCTTGAA	0.433000														185			161		0	0	0.014410	0	0
IYD	389434	broad.mit.edu	37	6	150713522	150713522	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:150713522G>A	uc003qnx.2	+	2	552	c.412G>A	c.(412-414)Gtg>Atg	p.V138M	IYD_uc003qnv.2_Missense_Mutation_p.V138M|IYD_uc003qnu.2_Missense_Mutation_p.V138M|IYD_uc003qnw.2_Non-coding_Transcript|IYD_uc010kik.2_Missense_Mutation_p.V56M	NM_001164694	NP_001158166	Q6PHW0	IYD1_HUMAN	Homo sapiens iodotyrosine deiodinase (IYD), transcript variant 1, mRNA.	138					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		CTGGACCTTCGTGGTTGTGAA	0.488000														11			61		0	0	0.014410	0	0
TRMT1	55621	broad.mit.edu	37	19	13216316	13216316	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:13216316G>A	uc002mwj.2	-	13	1938	c.1688C>T	c.(1687-1689)cCt>cTt	p.P563L	LYL1_uc002mwi.3_5'Flank|TRMT1_uc010xmy.1_Missense_Mutation_p.P167L|TRMT1_uc002mwk.2_Missense_Mutation_p.P534L|TRMT1_uc002mwl.3_Missense_Mutation_p.P563L|TRMT1_uc010xmz.1_Missense_Mutation_p.P349L	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA.	563							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CCGGGCACGAGGCCGGGGACC	0.662000														61			54		0	0	0.014410	0	0
HYDIN	54768	broad.mit.edu	37	16	70884483	70884483	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:70884483C>T	uc002ezr.3	-	73	12667	c.12516G>A	c.(12514-12516)aaG>aaA	p.K4172K	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.	4173										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)				GGTGGACTTTCTTTTCCACAT	0.443000														15			17		0	0	0.002780	0	0
ZNF366	167465	broad.mit.edu	37	5	71756214	71756214	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:71756214G>A	uc003kce.1	-	1	1296	c.1110C>T	c.(1108-1110)tgC>tgT	p.C370C		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AGTCGAGGCCGCACTCCACAC	0.647000														2			21		0	0	0.004656	0	0
SCN9A	6335	broad.mit.edu	37	2	167085480	167085480	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:167085480G>A	uc010fpl.3	-	21	4235	c.3894C>T	c.(3892-3894)gtC>gtT	p.V1298V	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1309						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)	CATTCACAACGACCTAGTATT	0.343000														43			14		0	0	0.002450	0	0
SCN11A	11280	broad.mit.edu	37	3	38951578	38951578	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:38951578G>A	uc021wvy.1	-	7	1279	c.1080C>T	c.(1078-1080)tcC>tcT	p.S360S		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	360					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)	GCTTCTCCCAGGAATCTTGGG	0.398000														3			12		0	0	0.013537	0	0
NEUROD1	4760	broad.mit.edu	37	2	182542879	182542879	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:182542879A>G	uc021vto.1	-	0	709	c.709T>C	c.(709-711)Tcc>Ccc	p.S237P	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Missense_Mutation_p.S237P|NEUROD1_uc021vtn.1_Missense_Mutation_p.S237P	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	237					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			AAGACATGGGAGCTGTCCATG	0.632000											OREG0005604	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=NEUROD1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		204			61		0	0	0.014410	0	0
ADAM2	2515	broad.mit.edu	37	8	39613372	39613372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:39613372G>A	uc003xnj.3	-	15	1747	c.1672C>T	c.(1672-1674)Cca>Tca	p.P558S	ADAM2_uc003xnk.3_Missense_Mutation_p.P539S|ADAM2_uc011lck.2_Intron|ADAM2_uc003xnl.3_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	558	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.P558S(2)		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)		GTGGCTCTTGGAATTTGTAAT	0.303000														45			21		0	0	0.003330	0	0
HMCN1	83872	broad.mit.edu	37	1	185970777	185970777	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:185970777C>A	uc001grq.1	+	27	4481	c.4252C>A	c.(4252-4254)Ctc>Atc	p.L1418I		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1418	Ig-like C2-type 11.				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						GATACTGAAGCTCTTCAGAGC	0.403000														26			11		0.00136819	0.0016031	0.013537	1	0
CHRNA5	1138	broad.mit.edu	37	15	78882211	78882211	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:78882211T>G	uc002bdy.3	+	4	678	c.478T>G	c.(478-480)Tgg>Ggg	p.W160G		NM_000745	NP_000736	P30532	ACHA5_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 5 (CHRNA5), mRNA.	160					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						CACTGTCACCTGGACTCCACC	0.403000														54			39		0	0	0.013114	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270195	1270195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:1270195G>A	uc002cks.3	+	34	6511	c.6263G>A	c.(6262-6264)gGa>gAa	p.G2088E	CACNA1H_uc002ckt.3_Missense_Mutation_p.G2082E|CACNA1H_uc002cku.3_Missense_Mutation_p.G783E|CACNA1H_uc010brj.3_Missense_Mutation_p.G799E|CACNA1H_uc002ckv.3_Missense_Mutation_p.G777E	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2088					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)	GCCCCAGGCGGAGAGGAGGCC	0.731000														16			19		0	0	0.014323	0	0
PBRM1	55193	broad.mit.edu	37	3	52610695	52610695	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:52610695G>A	uc003des.2	-	21	3565	c.3553C>T	c.(3553-3555)Cga>Tga	p.R1185*	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Nonsense_Mutation_p.R1185*|PBRM1_uc003der.2_Nonsense_Mutation_p.R1153*|PBRM1_uc003det.2_Nonsense_Mutation_p.R1200*|PBRM1_uc003deu.2_Nonsense_Mutation_p.R1200*|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Nonsense_Mutation_p.R1185*|PBRM1_uc010hmk.1_Nonsense_Mutation_p.R1160*|PBRM1_uc003dey.2_Nonsense_Mutation_p.R1160*|PBRM1_uc003dez.1_Nonsense_Mutation_p.R1184*	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1185	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.R1185*(5)|p.R1153*(1)		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)		GCTCCATCTCGAACCCATACT	0.338000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									2			26		0	0	0.005443	0	0
SLC6A3	6531	broad.mit.edu	37	5	1441544	1441544	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:1441544C>T	uc003jck.3	-	2	474	c.348G>A	c.(346-348)atG>atA	p.M116I		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	116					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GGGCCAGCTCCATGTAGAAAA	0.577000														29			27		0	0	0.005443	0	0
TRERF1	55809	broad.mit.edu	37	6	42200500	42200500	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:42200500G>A	uc003ose.2	-	16	3820	c.3257C>T	c.(3256-3258)tCg>tTg	p.S1086L	TRERF1_uc011duq.1_Missense_Mutation_p.S983L|TRERF1_uc003osb.2_Missense_Mutation_p.S834L|TRERF1_uc003osc.2_Missense_Mutation_p.S822L|TRERF1_uc003osd.2_Missense_Mutation_p.S1066L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	1066	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			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)			GCTCTTTACCGAACAGTACCC	0.642000														19			23		0	0	0.003330	0	0
PROX1	5629	broad.mit.edu	37	1	214171453	214171453	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:214171453G>A	uc001hkh.3	+	1	1847	c.1575G>A	c.(1573-1575)agG>agA	p.R525R	PROX1_uc001hkg.1_Silent_p.R525R	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	525					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			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)		CGAGTCTGAGGACCAAGATGT	0.552000														24			54		0	0	0.014410	0	0
NUP98	4928	broad.mit.edu	37	11	3781771	3781771	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:3781771A>G	uc001lyh.3	-	9	1593	c.1172T>C	c.(1171-1173)tTt>tCt	p.F391S	NUP98_uc001lyi.3_Missense_Mutation_p.F391S|NUP98_uc001lyj.2_Missense_Mutation_p.F391S|NUP98_uc001lyk.2_Missense_Mutation_p.F391S	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	391	Gly/Thr-rich.				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)		TTTGTTACCAAAGAGCCCGCC	0.393000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									16			31		0	0	0.010818	0	0
TMEM39B	55116	broad.mit.edu	37	1	32557514	32557514	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:32557514T>C	uc010ogv.2	+	5	975	c.829T>C	c.(829-831)Ttc>Ctc	p.F277L	TMEM39B_uc010ogt.1_Non-coding_Transcript|TMEM39B_uc010ogu.1_Missense_Mutation_p.F150L|TMEM39B_uc001buf.4_Missense_Mutation_p.F78L|TMEM39B_uc010ogw.2_Missense_Mutation_p.F78L	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN	Homo sapiens transmembrane protein 39B (TMEM39B), mRNA.	277						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGAGGTGGAGTTCCTCAAGAT	0.587000														36			6		0	0	0.001168	0	0
UGT1A1	54658	broad.mit.edu	37	2	234590981	234590981	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:234590981T>C	uc002vut.3	+	0	398	c.398T>C	c.(397-399)tTa>tCa	p.L133S	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_Missense_Mutation_p.L133S	NM_019077	NP_061950	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA.	136					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)	GACCGAAAATTAGTAGAATAC	0.363000														86			29		0	0	0.005443	0	0
OAS3	4940	broad.mit.edu	37	12	113403830	113403830	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:113403830C>T	uc001tug.3	+	11	2772	c.2685C>T	c.(2683-2685)gcC>gcT	p.A895A		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	895	OAS domain 3.				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						CCTTTGACGCCCTAGGTGAGG	0.577000														5			17		0	0	0.002780	0	0
SHE	126669	broad.mit.edu	37	1	154459132	154459132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:154459132G>A	uc001ffb.3	-	3	1076	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F	SHE_uc001ffc.3_Non-coding_Transcript	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Homo sapiens Src homology 2 domain containing E (SHE), mRNA.	351										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	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)			CTCCCTGAAGGAAGGTCGCTC	0.542000														44			16		0	0	0.004007	0	0
FLT3	2322	broad.mit.edu	37	13	28589742	28589742	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:28589742C>T	uc001urw.3	-	20	2720	c.2638G>A	c.(2638-2640)Gaa>Aaa	p.E880K	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.E839K	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	880	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			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)	GAGAAGATTTCCCACAGTAAT	0.547000			"""Mis, O"""		"""AML, ALL"""									23			22		0	0	0.010504	0	0
TXLNA	200081	broad.mit.edu	37	1	32657917	32657917	+	Silent	SNP	C	T	T	rs140788218		TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:32657917C>T	uc001bui.3	+	6	1034	c.969C>T	c.(967-969)atC>atT	p.I323I	TXLNA_uc001buj.3_Silent_p.I323I	NM_175852	NP_787048	P40222	TXLNA_HUMAN	Homo sapiens taxilin alpha (TXLNA), mRNA.	323					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGCAGCATATCGACAAAGTCT	0.587000														73			20		0	0	0.014323	0	0
RP1	6101	broad.mit.edu	37	8	55540928	55540928	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:55540928G>A	uc003xsd.1	+	3	4634	c.4486G>A	c.(4486-4488)Gaa>Aaa	p.E1496K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1496					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)			ATTAATCCAAGAAGAGGTAGA	0.313000														34			29		0	0	0.009535	0	0
POLRMT	5442	broad.mit.edu	37	19	621728	621728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:621728G>A	uc002lpf.1	-	9	2026	c.1970C>T	c.(1969-1971)tCg>tTg	p.S657L		NM_005035	NP_005026	O00411	RPOM_HUMAN	Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.	657					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGTGCGGCGATGTCCAGGG	0.682000														20			12		0	0	0.010729	0	0
HAL	3034	broad.mit.edu	37	12	96389530	96389530	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:96389530G>A	uc001tem.1	-	1	456	c.159C>T	c.(157-159)ttC>ttT	p.F53F	HAL_uc010sux.1_Silent_p.F53F|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_5'UTR	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	53					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GGCGCACAAGGAAGTGCGCGT	0.637000														5			49		0	0	0.014410	0	0
C2CD3	26005	broad.mit.edu	37	11	73785332	73785332	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:73785332G>A	uc001ouu.2	-	23	5144	c.4917C>T	c.(4915-4917)atC>atT	p.I1639I	C2CD3_uc001out.3_Non-coding_Transcript	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1639	C2 2.					centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TTTCTACTAGGATGCTGACTG	0.542000														11			15		0	0	0.007413	0	0
KCND3	3752	broad.mit.edu	37	1	112525204	112525204	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:112525204G>C	uc001ebu.1	-	1	625	c.145C>G	c.(145-147)Cgg>Ggg	p.R49G	KCND3_uc001ebv.1_Missense_Mutation_p.R49G	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	49						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGGAACCTCCGCCCACTCACG	0.637000														7			20		0	0	0.008871	0	0
DMBT1	1755	broad.mit.edu	37	10	124380647	124380647	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:124380647C>T	uc001lgk.1	+	40	5078	c.4972C>T	c.(4972-4974)Cga>Tga	p.R1658*	DMBT1_uc001lgl.1_Nonsense_Mutation_p.R1648*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.R1030*|DMBT1_uc021qaf.1_Nonsense_Mutation_p.R1658*|DMBT1_uc021qag.1_Nonsense_Mutation_p.R1648*|DMBT1_uc021qah.1_Nonsense_Mutation_p.R1030*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.R1658*|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Nonsense_Mutation_p.R361*|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.	1658	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)				GGTCCTGTATCGAGGCTCCTG	0.592000														108			86		0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13727742	13727742	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:13727742C>T	uc003jfd.2	-	69	11949	c.11907G>A	c.(11905-11907)tgG>tgA	p.W3969*	DNAH5_uc003jfc.2_Nonsense_Mutation_p.W137*	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3969					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)					ACCAAATTTTCCACATTTTCT	0.383000									Kartagener syndrome					21			21		0	0	0.002780	0	0
MAP4K1	11184	broad.mit.edu	37	19	39096304	39096304	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:39096304C>T	uc002oix.1	-	17	1375	c.1267G>A	c.(1267-1269)Ggg>Agg	p.G423R	MAP4K1_uc002oiy.1_Missense_Mutation_p.G423R|MAP4K1_uc010xug.2_Missense_Mutation_p.G85R	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	423					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)			ACCAGCACCCCCGGGCTCAGC	0.652000														13			8		0	0	0.006214	0	0
ATP9A	10079	broad.mit.edu	37	20	50290724	50290724	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:50290724G>A	uc002xwg.1	-	10	1005	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	ATP9A_uc010gih.1_Silent_p.F199F|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	335					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			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACAAGAGGAGGAAGCGGATGA	0.517000														34			23		0	0	0.004656	0	0
ABCA10	10349	broad.mit.edu	37	17	67189662	67189662	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:67189662A>T	uc010dfa.1	-	14	2492	c.1613T>A	c.(1612-1614)cTa>cAa	p.L538Q	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.L139Q	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	538	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GGCAATCCCTAGTGTTAGTTT	0.303000														0			20		0	0	0.002780	0	0
CDSN	1041	broad.mit.edu	37	6	31084720	31084720	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:31084720G>A	uc003nsm.2	-	1	728	c.672C>T	c.(670-672)gaC>gaT	p.D224D	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	224	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						TGCAGGGAGAGTCGGGGATGT	0.627000														28			29		0	0	0.008361	0	0
PRSS42	339906	broad.mit.edu	37	3	46874545	46874545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:46874545G>A	uc011bap.2	-	2	523	c.523C>T	c.(523-525)Cct>Tct	p.P175S	PRSS42_uc003cqj.3_Missense_Mutation_p.P71S	NM_182702	NP_874361	Q7Z5A4	PRS42_HUMAN	Homo sapiens protease, serine, 42 (PRSS42), mRNA.	175	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P175P(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						AAATTCACAGGATGTTGGAGC	0.498000														8			37		0	0	0.004289	0	0
DNAH8	1769	broad.mit.edu	37	6	38854576	38854576	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:38854576G>A	uc021yzh.1	+	56	8378	c.8269G>A	c.(8269-8271)Gag>Aag	p.E2757K	DNAH8_uc003ooe.2_Missense_Mutation_p.E2540K	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						GATAACTAATGAGATTGTGCG	0.348000														30			11		0	0	0.010729	0	0
TARSL2	123283	broad.mit.edu	37	15	102194903	102194903	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:102194903G>A	uc002bxm.3	-	18	2346	c.2291C>T	c.(2290-2292)gCt>gTt	p.A764V	TARSL2_uc002bxl.3_3'UTR|TARSL2_uc010usi.2_Non-coding_Transcript|TM2D3_uc010usg.1_5'Flank|TM2D3_uc002bxi.3_5'Flank|TM2D3_uc002bxj.3_5'Flank|TM2D3_uc010ush.1_5'Flank	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	764					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CACGTTTACAGCATTATCTAT	0.358000														15			10		0	0	0.013537	0	0
NLRP8	126205	broad.mit.edu	37	19	56466477	56466477	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:56466477C>T	uc002qmh.3	+	2	1124	c.1053C>T	c.(1051-1053)ctC>ctT	p.L351L	NLRP8_uc010etg.3_Silent_p.L351L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	351	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)		GTCCCTCTCTCGTAACCCTTC	0.463000														47			30		0	0	0.012213	0	0
LOC646214	646214	broad.mit.edu	37	15	21937983	21937983	+	RNA	SNP	C	A	A	rs141885846	by1000genomes	TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:21937983C>A	uc010tzj.1	-	0		c.2757G>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TATGCCTGGGCTTTTTCTCCT	0.448000														576			23		7.88262e-20	9.45915e-20	0.003330	1	0
TTN	7273	broad.mit.edu	37	2	179598097	179598097	+	Missense_Mutation	SNP	C	T	T	rs146847928	by1000genomes	TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:179598097C>T	uc021vsy.1	-	50	12416	c.12191G>A	c.(12190-12192)cGa>cAa	p.R4064Q	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R725Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4991							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)			AAAACTTATTCGGTATTTTTT	0.473000														63			19		0	0	0.006122	0	0
ODZ3	55714	broad.mit.edu	37	4	183601472	183601472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:183601472C>T	uc003ivd.1	+	7	1684	c.1609C>T	c.(1609-1611)Cca>Tca	p.P537S	ODZ3_uc003ive.1_5'UTR	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	537	EGF-like 1.				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)		CCATTGTTTTCCAGGATTTCT	0.408000														3			15		0	0	0.004007	0	0
OR13C9	286362	broad.mit.edu	37	9	107380129	107380129	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:107380129G>A	uc011lvr.2	-	0	357	c.357C>T	c.(355-357)gcC>gcT	p.A119A		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						AGCGGTCAAAGGCCATCATGC	0.502000														7			59		0	0	0.014410	0	0
KCNB1	3745	broad.mit.edu	37	20	47990547	47990547	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:47990547G>A	uc002xur.1	-	1	1716	c.1550C>T	c.(1549-1551)tCg>tTg	p.S517L	KCNB1_uc002xus.1_Missense_Mutation_p.S517L	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	517	Poly-Ser.				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACTAGAAGACGATCTGGCTTT	0.463000														147			122		0	0	0.014410	0	0
CHAT	1103	broad.mit.edu	37	10	50828603	50828603	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:50828603C>T	uc001jhz.2	+	3	795	c.642C>T	c.(640-642)tcC>tcT	p.S214S	CHAT_uc001jhv.1_Silent_p.S96S|CHAT_uc001jhx.1_Silent_p.S96S|CHAT_uc001jhy.1_Silent_p.S96S|CHAT_uc001jia.2_Silent_p.S132S|CHAT_uc010qgs.1_Silent_p.S96S	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	214					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CTGTCAACTCCAGCCCTGCCG	0.617000														20			19		0	0	0.008871	0	0
LILRA1	11024	broad.mit.edu	37	19	55087514	55087514	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:55087514C>T	uc010ern.3	+	6	1662	c.1193C>T	c.(1192-1194)tCa>tTa	p.S398L	LILRA1_uc002qgg.4_Missense_Mutation_p.S398L|LILRA1_uc002qgf.3_Missense_Mutation_p.S398L|LILRA1_uc010yfe.1_Missense_Mutation_p.S398L|LILRA1_uc010yff.1_Missense_Mutation_p.S386L|LILRA1_uc010ero.3_Missense_Mutation_p.S386L|LILRA1_uc010yfg.1_Intron			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	400	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			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)		TGCTACAGCTCACTCAGCTCC	0.597000														43			28		0	0	0.008361	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21471798	21471798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:21471798C>T	uc001rer.3	-	1	371	c.120G>A	c.(118-120)atG>atA	p.M40I	SLCO1A2_uc010siq.2_5'UTR|SLCO1A2_uc001res.3_Missense_Mutation_p.M40I|SLCO1A2_uc010sio.2_5'UTR|SLCO1A2_uc010sip.2_Intron|SLCO1A2_uc001ret.3_Missense_Mutation_p.M38I|SLCO1A2_uc001reu.2_Missense_Mutation_p.M20I	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	40					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.M40T(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						GCATGGAATTCATATAAGATC	0.308000														36			37		0	0	0.003271	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111794228	111794228	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:111794228G>A	uc010hqb.2	+	12	1636	c.1466G>A	c.(1465-1467)gGg>gAg	p.G489E	TMPRSS7_uc011bhr.1_Missense_Mutation_p.G344E	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	615	LDL-receptor class A 1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACCCTGGAGGGGGGTTGGCCG	0.567000														83			69		0	0	0.014410	0	0
TPTE	7179	broad.mit.edu	37	21	10914419	10914419	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr21:10914419G>A	uc002yip.1	-	20	1668	c.1300C>T	c.(1300-1302)Caa>Taa	p.Q434*	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Nonsense_Mutation_p.Q416*|TPTE_uc002yir.1_Nonsense_Mutation_p.Q396*|TPTE_uc010gkv.1_Nonsense_Mutation_p.Q296*	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	434	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S434L(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)		ATTTCTATTTGGATTTTTAGA	0.313000														10			5		0	0	0.000602	0	0
DNAH5	1767	broad.mit.edu	37	5	13701415	13701415	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:13701415C>T	uc003jfd.2	-	76	13511	c.13469G>A	c.(13468-13470)gGa>gAa	p.G4490E	DNAH5_uc003jfc.2_Missense_Mutation_p.G658E	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4490					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G4490G(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)					AGTTAAAAATCCCTGGGGGTT	0.408000									Kartagener syndrome					38			35		0	0	0.004289	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951096	119951096	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:119951096C>T	uc010inb.3	+	3	1362	c.1166C>T	c.(1165-1167)cCc>cTc	p.P389L	SYNPO2_uc010ina.3_Missense_Mutation_p.P389L|SYNPO2_uc003icm.4_Missense_Mutation_p.P389L|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.P317L|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	389						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						GCTCCCAACCCCAACTCCAAG	0.512000														9			45		0	0	0.014410	0	0
MLL3	58508	broad.mit.edu	37	7	151945102	151945102	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:151945102G>A	uc003wla.3	-	13	2636	c.2417C>T	c.(2416-2418)tCc>tTc	p.S806F		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	806					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.S806S(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)		TCCAGCAGAGGAACTAAGAGC	0.438000			N		medulloblastoma									526			21		0	0	0.003330	0	0
MUC16	94025	broad.mit.edu	37	19	9069683	9069683	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:9069683C>T	uc002mkp.3	-	2	17967	c.17763G>A	c.(17761-17763)gtG>gtA	p.V5921V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5923	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						TGGTTTCTTCCACAGAGGGAG	0.498000														38			32		0	0	0.009535	0	0
LMNA	4000	broad.mit.edu	37	1	156084914	156084914	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:156084914G>A	uc001fni.2	+	0	454	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	LMNA_uc001fnf.1_Missense_Mutation_p.V69M|LMNA_uc001fng.2_Missense_Mutation_p.V69M|LMNA_uc001fnh.2_Missense_Mutation_p.V69M|LMNA_uc009wro.1_Missense_Mutation_p.V69M	NM_170707	NP_733821	P02545	LMNA_HUMAN	Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA.	69	Coil 1A.|Interaction with MLIP.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GTCTGAAGAGGTGGTCAGCCG	0.652000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome					72			156		0	0	0.014410	0	0
COL4A4	1286	broad.mit.edu	37	2	227920702	227920702	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:227920702G>A	uc021vxr.1	-	28	2776	c.2675C>T	c.(2674-2676)cCc>cTc	p.P892L	COL4A4_uc021vxs.1_Missense_Mutation_p.P892L	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	892	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)		ATCTCCAAAGGGACCTGGGAT	0.592000														17			32		0	0	0.010818	0	0
DUOX2	50506	broad.mit.edu	37	15	45389836	45389836	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:45389836G>A	uc001zun.3	-	27	3872	c.3669C>T	c.(3667-3669)caC>caT	p.H1223H	DUOX2_uc010bea.3_Silent_p.H1223H	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1223	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)		GGATGTAGAGGTGGTGGGTCA	0.612000														66			55		0	0	0.014410	0	0
OR4K2	390431	broad.mit.edu	37	14	20344533	20344533	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr14:20344533T>C	uc001vwh.1	+	0	107	c.107T>C	c.(106-108)gTg>gCg	p.V36A		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y35*(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGCTTTATGTGGCAACAATG	0.408000														15			92		0	0	0.014410	0	0
MX2	4600	broad.mit.edu	37	21	42754398	42754398	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr21:42754398C>T	uc002yzf.1	+	4	743	c.639C>T	c.(637-639)atC>atT	p.I213I	MX2_uc011aer.1_Non-coding_Transcript	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	213					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)				GCCTGGAGATCACCTCCCCTG	0.617000														33			16		0	0	0.003163	0	0
OR2M2	391194	broad.mit.edu	37	1	248343836	248343836	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:248343836C>T	uc010pzf.2	+	0	549	c.549C>T	c.(547-549)tcC>tcT	p.S183S		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	183					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)			AATTCCCTTCCCTACTAATCC	0.413000														132			27		0	0	0.005443	0	0
OR2C3	81472	broad.mit.edu	37	1	247695748	247695748	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:247695748G>A	uc021pmb.1	-	0	66	c.66C>T	c.(64-66)ccC>ccT	p.P22P	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.P22P	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	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;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TTTCTAGTGAGGGTCGTGTGG	0.488000														27			7		0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9083474	9083474	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:9083474C>T	uc002mkp.3	-	0	8545	c.8341G>A	c.(8341-8343)Gag>Aag	p.E2781K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2781	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E2781Q(3)		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						GATGCCCTCTCAAGCCCAGCT	0.493000														22			22		0	0	0.003330	0	0
C10orf2	56652	broad.mit.edu	37	10	102753064	102753064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:102753064C>T	uc001ksf.2	+	4	2527	c.1852C>T	c.(1852-1854)Ccg>Tcg	p.P618S	C10orf2_uc010qpv.1_Missense_Mutation_p.P164S|C10orf2_uc001ksg.2_3'UTR|C10orf2_uc001ksi.2_3'UTR|C10orf2_uc021pxb.1_Non-coding_Transcript	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.	618	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGGTGTCTTCCCGCTTGAGTT	0.517000														33			26		0	0	0.008361	0	0
CSMD1	64478	broad.mit.edu	37	8	3265485	3265485	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:3265485T>C	uc022aqr.1	-	13	2397	c.2007A>G	c.(2005-2007)atA>atG	p.I669M	CSMD1_uc011kwj.2_Missense_Mutation_p.I62M	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	670	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)		CCAAGCGAACTATATGCCCAC	0.483000														19			8		0	0	0.003080	0	0
DEFB116	245930	broad.mit.edu	37	20	29891093	29891093	+	Silent	SNP	A	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:29891093A>G	uc010ztm.2	-	1	231	c.231T>C	c.(229-231)agT>agC	p.S77S		NM_001037731	NP_001032820	Q30KQ4	DB116_HUMAN	Homo sapiens defensin, beta 116 (DEFB116), mRNA.	77					defense response to bacterium	extracellular region				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CATTTTTAGAACTGGTTATTT	0.398000														114			74		0	0	0.014410	0	0
COL9A1	1297	broad.mit.edu	37	6	70978560	70978560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:70978560G>A	uc003pfg.4	-	16	1393	c.1234C>T	c.(1234-1236)Ccc>Tcc	p.P412S	COL9A1_uc003pfe.4_5'UTR|COL9A1_uc003pff.4_Missense_Mutation_p.P169S	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	412	Nonhelical region (NC3).				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						CAGGCATTGGGACACTGCCAG	0.453000														4			28		0	0	0.008361	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52129336	52129336	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:52129336C>T	uc002pxe.3	-	7	1552	c.1413G>A	c.(1411-1413)ggG>ggA	p.G471G		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	471					cell adhesion	integral to membrane	sugar binding	p.G471R(1)		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)		TCTCTGGTCTCCCAGCTGCTT	0.542000														37			21		0	0	0.002780	0	0
LAMC1	3915	broad.mit.edu	37	1	183093825	183093825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:183093825C>T	uc001gpy.4	+	13	2718	c.2461C>T	c.(2461-2463)Cct>Tct	p.P821S		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	821	Laminin EGF-like 7.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAGAAACGGCCCTGTGAGACT	0.498000														45			12		0	0	0.013537	0	0
GRM7	2917	broad.mit.edu	37	3	7620138	7620138	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:7620138C>T	uc003bqm.2	+	7	1819	c.1545C>T	c.(1543-1545)gtC>gtT	p.V515V	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_Silent_p.V515V|GRM7_uc003bql.2_Silent_p.V515V|GRM7_uc003bqn.1_Silent_p.V98V|GRM7_uc010hch.1_Silent_p.V26V	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	515					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)	GTAAAGGAGTCCGAGAGATAC	0.463000														17			13		0	0	0.013537	0	0
MLL2	8085	broad.mit.edu	37	19	36217192	36217192	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:36217192G>A	uc021usv.1	+	13	3941	c.3941G>A	c.(3940-3942)tGg>tAg	p.W1314*	MLL2_uc021usu.1_Nonsense_Mutation_p.W128*	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	1487	Arg-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						GGCAAGAACTGGGACGTCGAG	0.607000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				32			26		0	0	0.003755	0	0
YEATS4	8089	broad.mit.edu	37	12	69759659	69759659	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:69759659A>G	uc001sux.3	+	3	549	c.328A>G	c.(328-330)Aga>Gga	p.R110G		NM_006530	NP_006521	O95619	YETS4_HUMAN	Homo sapiens YEATS domain containing 4 (YEATS4), mRNA.	110	YEATS.				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			CCCTAATGAAAGACCTGTGAG	0.284000														5			22		0	0	0.012319	0	0
CYP11A1	1583	broad.mit.edu	37	15	74630948	74630949	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:74630948_74630949CC>TT	uc002axt.2	-	7	1552_1553	c.1397_1398GG>AA	c.(1396-1398)cgg>cAA	p.R466Q	CYP11A1_uc002axs.2_Missense_Mutation_p.R308Q|CYP11A1_uc010bjm.1_Missense_Mutation_p.R308Q|CYP11A1_uc010bjn.1_Non-coding_Transcript	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	466					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GCTCAGCGATCCGCCGTCCCAG	0.554000														35			30		0	0	0.004672	0	0
MGAM	8972	broad.mit.edu	37	7	141736730	141736730	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:141736730C>T	uc003vwy.3	+	17	2238	c.2184C>T	c.(2182-2184)ttC>ttT	p.F728F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	728	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)	CCCTCTTCTTCCGTGCTCACA	0.488000														309			128		0	0	0.014410	0	0
GRM8	2918	broad.mit.edu	37	7	126249496	126249496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:126249496C>T	uc003vlr.2	-	6	1725	c.1414G>A	c.(1414-1416)Gat>Aat	p.D472N	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.D472N|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	472					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)	TGGAAGATATCATAACGTCCA	0.368000										HNSCC(24;0.065)				40			82		0	0	0.014410	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713007	70713007	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr14:70713007G>A	uc010ttg.2	-	0	1512	c.861C>T	c.(859-861)ttC>ttT	p.F287F						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		CTGATGGCATGAATTTGCAGT	0.483000														2			14		0	0	0.002450	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579277	44579277	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:44579277A>G	uc003tlb.3	-	1	775	c.719T>C	c.(718-720)gTt>gCt	p.V240A	NPC1L1_uc011kbw.2_Missense_Mutation_p.V240A|NPC1L1_uc003tlc.3_Missense_Mutation_p.V240A|NPC1L1_uc003tld.3_Missense_Mutation_p.V240A	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	240					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCAACGTGCAACCCCCTCATT	0.632000														23			28		0	0	0.006320	0	0
UGT3A1	133688	broad.mit.edu	37	5	35968221	35968221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:35968221C>T	uc003jjv.2	-	2	404	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.E71K|UGT3A1_uc011cor.2_Missense_Mutation_p.E37K|UGT3A1_uc003jjy.2_Missense_Mutation_p.E17K	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	71						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TATGATTTTTCCTCCTCTTTA	0.299000														21			13		0	0	0.013537	0	0
MYRIP	25924	broad.mit.edu	37	3	40211497	40211497	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:40211497G>A	uc003cka.3	+	7	921	c.786G>A	c.(784-786)tgG>tgA	p.W262*	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Nonsense_Mutation_p.W262*|MYRIP_uc010hhw.3_Nonsense_Mutation_p.W173*|MYRIP_uc011ayz.2_Nonsense_Mutation_p.W75*	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	262	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			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)		AGCCAGGATGGCCACATCCCC	0.567000														3			19		0	0	0.010504	0	0
COL22A1	169044	broad.mit.edu	37	8	139642950	139642950	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:139642950G>A	uc003yvd.3	-	49	4098	c.3651C>T	c.(3649-3651)atC>atT	p.I1217I	COL22A1_uc011ljo.2_Silent_p.I497I	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1217	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTGACCCTTGGATTCCTGGTG	0.473000										HNSCC(7;0.00092)				99			65		0	0	0.014410	0	0
GEM	2669	broad.mit.edu	37	8	95272505	95272505	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:95272505T>A	uc003ygi.3	-	1	351	c.227A>T	c.(226-228)tAc>tTc	p.Y76F	GEM_uc003ygj.3_Missense_Mutation_p.Y76F	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	76					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			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)			CACCACTCGGTAGTAGGTGTT	0.597000														31			22		0	0	0.014323	0	0
MYL2	4633	broad.mit.edu	37	12	111348978	111348978	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:111348978A>G	uc001try.4	-	7	474	c.403_splice	c.e7-1	p.V135_splice	MYL2_uc001trx.4_Splice_Site_p.V116_splice	NM_000432	NP_000423	P10916	MLRV_HUMAN	Homo sapiens myosin, light chain 2, regulatory, cardiac, slow (MYL2), mRNA.	135	EF-hand 3.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						CATCTGGTCAACCTGCAATGA	0.612000														7			62		0	0	0.014410	0	0
PAPOLB	56903	broad.mit.edu	37	7	4899855	4899855	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:4899855G>A	uc003snk.3	-	0	1771	c.1587C>T	c.(1585-1587)ggC>ggT	p.G529G	RADIL_uc003sng.1_Intron|RADIL_uc003snj.1_Intron|RADIL_uc011jwd.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	Homo sapiens poly(A) polymerase beta (testis specific) (PAPOLB), mRNA.	528					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TGTTTTCACAGCCTGCAGACA	0.468000														44			32		0	0	0.012213	0	0
ROBO3	64221	broad.mit.edu	37	11	124748575	124748575	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:124748575G>A	uc001qbc.3	+	22	3585	c.3416G>A	c.(3415-3417)aGg>aAg	p.R1139K	ROBO3_uc001qbd.2_Missense_Mutation_p.R64K|ROBO3_uc010sar.2_Missense_Mutation_p.R188K|ROBO3_uc001qbe.3_Missense_Mutation_p.R64K|ROBO3_uc001qbf.1_Missense_Mutation_p.R23K	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	1139					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CCATCCCGAAGGGAAACCCCC	0.632000														2			16		0	0	0.004007	0	0
SPTBN4	57731	broad.mit.edu	37	19	41000807	41000807	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:41000807C>T	uc002ony.3	+	5	677	c.591C>T	c.(589-591)taC>taT	p.Y197Y	SPTBN4_uc002onx.3_Silent_p.Y197Y|SPTBN4_uc002onz.3_Silent_p.Y197Y	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	197	Actin-binding.|CH 2.				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)			cttccAGTTACCCTGAGGTAA	0.547000														30			13		0	0	0.002450	0	0
ZNF71	58491	broad.mit.edu	37	19	57132840	57132840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:57132840C>T	uc002qnm.4	+	2	423	c.185C>T	c.(184-186)cCc>cTc	p.P62L	ZNF71_uc021vcg.1_Missense_Mutation_p.P62L	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	62						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)		TTGGGAATTCCCCAGGGGAAC	0.617000														14			9		0	0	0.004482	0	0
ANO2	57101	broad.mit.edu	37	12	5848488	5848488	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:5848488C>T	uc001qnm.2	-	12	1489	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	478						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.E473G(1)		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						CTCACTTCTTCCTCTTCTATG	0.433000														2			8		0	0	0.004482	0	0
RP1	6101	broad.mit.edu	37	8	55539216	55539216	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:55539216C>T	uc003xsd.1	+	3	2922	c.2774C>T	c.(2773-2775)cCa>cTa	p.P925L	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	925					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)			AACATAAATCCATATCCAACT	0.333000														23			13		0	0	0.013537	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269283	150269283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:150269283G>A	uc003whl.3	+	2	207	c.125G>A	c.(124-126)gGa>gAa	p.G42E	GIMAP4_uc011kuu.2_5'UTR|GIMAP4_uc011kuv.2_Missense_Mutation_p.G56E	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	42							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCGGAGCAGGAAAAAGTGCA	0.463000														65			23		0	0	0.014323	0	0
ANK1	286	broad.mit.edu	37	8	41530399	41530399	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:41530399G>A	uc003xok.3	-	37	4653	c.4569C>T	c.(4567-4569)tcC>tcT	p.S1523S	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Intron|ANK1_uc003xoi.3_Silent_p.S1523S|ANK1_uc003xoj.3_Silent_p.S1523S|ANK1_uc003xol.3_Intron|ANK1_uc003xom.3_Silent_p.S1564S	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1523	55 kDa regulatory domain.				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)			GGGAGGCAGGGGACAGCAGCT	0.622000														17			6		0	0	0.001984	0	0
PCM1	5108	broad.mit.edu	37	8	17843498	17843498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:17843498C>T	uc022asj.1	+	24	4451	c.4429C>T	c.(4429-4431)Cat>Tat	p.H1477Y	PCM1_uc003wyi.4_Missense_Mutation_p.H1438Y|PCM1_uc011kyh.2_Missense_Mutation_p.H1438Y|PCM1_uc003wyj.4_Missense_Mutation_p.H1384Y|PCM1_uc011kyi.2_Missense_Mutation_p.H245Y|PCM1_uc011kyj.2_Missense_Mutation_p.H194Y|PCM1_uc003wyk.4_Missense_Mutation_p.H120Y|PCM1_uc011kyk.2_Missense_Mutation_p.H62Y	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	1438	Interaction with HAP1.				G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TTCTGAGAGCCATGAAAAAGG	0.318000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""									20			22		0	0	0.012319	0	0
C9	735	broad.mit.edu	37	5	39341799	39341799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:39341799G>A	uc003jlv.4	-	2	276	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	63	TSP type-1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CTTCTTGAACGAAACTGCACA	0.438000														25			18		0	0	0.008871	0	0
RGS12	6002	broad.mit.edu	37	4	3319513	3319513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:3319513C>T	uc003ggw.3	+	1	2520	c.1616C>T	c.(1615-1617)cCg>cTg	p.P539L	RGS12_uc003ggu.2_Missense_Mutation_p.P539L|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.P539L|RGS12_uc003ggx.1_Missense_Mutation_p.P539L	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	539						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGCTGGCTCCCGGTCCACGTG	0.637000														16			13		0	0	0.001855	0	0
CLDND2	125875	broad.mit.edu	37	19	51870410	51870410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:51870410G>A	uc002pwi.1	-	3	916	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S	ETFB_uc002pwh.3_5'Flank	NM_152353	NP_689566	Q8NHS1	CLDN2_HUMAN	Homo sapiens claudin domain containing 2 (CLDND2), mRNA.	164						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGACACACGGGGAATCCACTG	0.622000														31			22		0	0	0.004656	0	0
EPS15	2060	broad.mit.edu	37	1	51934234	51934234	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:51934234A>C	uc001csq.1	-	4	312	c.220T>G	c.(220-222)Ttt>Gtt	p.F74V	EPS15_uc009vyz.1_Missense_Mutation_p.F74V	NM_001981	NP_001972	P42566	EPS15_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15 (EPS15), transcript variant 1, mRNA.	74	EH 1.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	SH3 domain binding|calcium ion binding	p.F73L(1)|p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						AAAGCAACAAAGAATTCCTAA	0.373000			T	MLL	ALL									32			12		0	0	0.001855	0	0
POTEC	388468	broad.mit.edu	37	18	14543037	14543037	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr18:14543037C>T	uc010dln.3	-	0	563	c.109G>A	c.(109-111)Ggg>Agg	p.G37R	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	37										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGCCGCTCCCCTTGCAGCAG	0.557000														69			43		0	0	0.014410	0	0
DDX60L	91351	broad.mit.edu	37	4	169322109	169322109	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:169322109C>T	uc021xuh.1	-	24	3469	c.3359G>A	c.(3358-3360)gGa>gAa	p.G1120E	DDX60L_uc003irq.4_Missense_Mutation_p.G1120E|DDX60L_uc003irr.1_Missense_Mutation_p.G1120E|DDX60L_uc003irs.1_Missense_Mutation_p.G815E	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1120							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)		AGCTCTTTTTCCCACATCATC	0.348000														1			19		0	0	0.003954	0	0
KLHL22	84861	broad.mit.edu	37	22	20819329	20819329	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:20819329G>A	uc002zsl.2	-	3	1085	c.928C>T	c.(928-930)Ccg>Tcg	p.P310S	KLHL22_uc011ahr.2_Missense_Mutation_p.P167S	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.	310					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ACAGTGGACGGCGTGGAGTGA	0.637000														81			38		0	0	0.003755	0	0
LOC646214	646214	broad.mit.edu	37	15	21937897	21937897	+	RNA	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:21937897G>A	uc010tzj.1	-	0		c.2843C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		AAAATCAGATGGAGGAGAAAT	0.433000														439			40		0	0	0.006999	0	0
NCOA6	23054	broad.mit.edu	37	20	33331098	33331098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:33331098G>A	uc002xav.3	-	11	5533	c.2962C>T	c.(2962-2964)Cct>Tct	p.P988S	NCOA6_uc002xaw.3_Missense_Mutation_p.P988S|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Missense_Mutation_p.P988S|NCOA6_uc021wcf.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	988	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ATGAGTTGAGGAGGCATCTGC	0.532000														31			35		0	0	0.003271	0	0
SCO1	6341	broad.mit.edu	37	17	10596221	10596221	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:10596221G>A	uc002gmr.4	-	2	483	c.422C>T	c.(421-423)tCc>tTc	p.S141F		NM_004589	NP_004580	O75880	SCO1_HUMAN	Homo sapiens SCO cytochrome oxidase deficient homolog 1 (yeast) (SCO1), nuclear gene encoding mitochondrial protein, mRNA.	141					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						AGTTGTGAGGGAAAACGGTCC	0.443000														3			27		0	0	0.005443	0	0
CSMD1	64478	broad.mit.edu	37	8	3200845	3200845	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:3200845G>A	uc022aqr.1	-	22	3992	c.3602C>T	c.(3601-3603)aCc>aTc	p.T1201I	CSMD1_uc011kwj.2_Missense_Mutation_p.T594I|CSMD1_uc003wqe.3_Missense_Mutation_p.T358I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1202	CUB 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)		ACCTTGGTCGGTGTCAGATCC	0.418000														34			35		0	0	0.006999	0	0
C15orf2	23742	broad.mit.edu	37	15	24922025	24922025	+	Silent	SNP	G	A	A	rs142610787		TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:24922025G>A	uc001ywo.3	+	0	1485	c.1011G>A	c.(1009-1011)ccG>ccA	p.P337P		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	337	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.P337L(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)		TGCTGCTGCCGCTGCCCCCTT	0.577000														28			25		0	0	0.006320	0	0
MUC16	94025	broad.mit.edu	37	19	9077007	9077007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:9077007C>T	uc002mkp.3	-	2	10643	c.10439G>A	c.(10438-10440)gGa>gAa	p.G3480E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3481	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						GCTTGTTTTTCCTCCTGAGGG	0.488000														17			18		0	0	0.006122	0	0
ATP1A3	478	broad.mit.edu	37	19	42490289	42490289	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:42490289G>A	uc002osh.3	-	4	604	c.450C>T	c.(448-450)tcC>tcT	p.S150S	ATP1A3_uc010xwf.2_Silent_p.S161S|ATP1A3_uc010xwg.2_Silent_p.S120S|ATP1A3_uc002osg.3_Silent_p.S150S|ATP1A3_uc010xwh.2_Silent_p.S163S			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	150					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						TGTTCTTGAAGGACTCCATGA	0.632000														65			32		0	0	0.004289	0	0
FSIP2	401024	broad.mit.edu	37	2	186671159	186671159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:186671159C>T	uc002upl.3	+	16	17393	c.17393C>T	c.(17392-17394)cCc>cTc	p.P5798L	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						GACCAAAGCCCCCCAGGTGAT	0.338000														21			33		0	0	0.004878	0	0
ACADSB	36	broad.mit.edu	37	10	124797320	124797320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:124797320C>T	uc001lhb.3	+	2	377	c.260C>T	c.(259-261)tCg>tTg	p.S87L	ACADSB_uc010qub.2_Intron	NM_001609	NP_001600	P45954	ACDSB_HUMAN	Homo sapiens acyl-CoA dehydrogenase, short/branched chain (ACADSB), nuclear gene encoding mitochondrial protein, mRNA.	87					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	p.S87L(2)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	GATGAAAATTCGAAAATGGAG	0.313000														37			28		0	0	0.010818	0	0
ZFP28	140612	broad.mit.edu	37	19	57060391	57060391	+	Silent	SNP	A	G	G	rs143915055	byFrequency	TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:57060391A>G	uc002qnj.3	+	4	659	c.588A>G	c.(586-588)ctA>ctG	p.L196L	ZFP28_uc002qni.3_Silent_p.L196L|BX647249_uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA.	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AAGGAAAGCTATCCCAGGCAG	0.438000														24			11		0	0	0.010729	0	0
X97876	0	broad.mit.edu	37	9	66499794	66499794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:66499794C>T	uc004aee.1	+	0	604	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		GTGCAAGTCGCGCAAGGAGCA	0.587000														33			5		0	0	0.008291	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58285160	58285160	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:58285160C>T	uc002aex.3	-	5	940	c.667G>A	c.(667-669)Gga>Aga	p.G223R	ALDH1A2_uc010ugv.2_Missense_Mutation_p.G202R|ALDH1A2_uc002aey.3_Missense_Mutation_p.G223R|ALDH1A2_uc010ugw.2_Missense_Mutation_p.G194R|ALDH1A2_uc002aew.3_Missense_Mutation_p.G127R	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	223					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ATGAGGGCTCCCATGTAGAGT	0.483000														54			40		0	0	0.007835	0	0
GALNT11	63917	broad.mit.edu	37	7	151791498	151791498	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:151791498C>T	uc010lqg.1	+	1	416	c.186C>T	c.(184-186)ggC>ggT	p.G62G	GALNT11_uc011kvm.1_Intron|GALNT11_uc003wku.2_Silent_p.G62G|GALNT11_uc003wkv.1_Silent_p.G62G|GALNT11_uc011kvn.1_Non-coding_Transcript	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) (GALNT11), mRNA.	62						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		TCACTCGAGGCCCAAGTCGAG	0.483000														76			31		0	0	0.012213	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280841	105280841	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chrX:105280841G>A	uc010npd.3	-	0	444	c.209C>T	c.(208-210)cCt>cTt	p.P70L	SERPINA7_uc004eme.2_Missense_Mutation_p.P70L|SERPINA7_uc010npe.2_Missense_Mutation_p.P70L	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	70					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	AATGCTCACAGGGGAAAAGAA	0.483000														1			34		0	0	0.010818	0	0
ZNF92	168374	broad.mit.edu	37	7	64852833	64852833	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:64852833G>T	uc003ttz.3	+	1	165	c.22G>T	c.(22-24)Gat>Tat	p.D8Y	ZNF92_uc003tua.3_Intron|ZNF92_uc010kzu.3_Missense_Mutation_p.D8Y|ZNF92_uc003tub.3_Intron	NM_152626	NP_009070	Q03936	ZNF92_HUMAN	Homo sapiens zinc finger protein 92 (ZNF92), transcript variant 2, mRNA.	8	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				GACATTTAGGGATGTGAAAAT	0.403000														55			21		1.55795e-14	1.86204e-14	0.012319	1	0
SLC30A8	169026	broad.mit.edu	37	8	118184799	118184799	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:118184799T>C	uc003yoh.3	+	7	1219	c.989T>C	c.(988-990)gTt>gCt	p.V330A	SLC30A8_uc010mcz.3_Missense_Mutation_p.V281A|SLC30A8_uc003yog.3_Missense_Mutation_p.V281A|SLC30A8_uc011lia.2_Missense_Mutation_p.V281A|SLC30A8_uc022bab.1_Missense_Mutation_p.V281A	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	330					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.V329V(2)|p.V330L(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)			AGCCAAGTGGTTCGGAGAGAA	0.507000														148			112		0	0	0.014410	0	0
CTNND2	1501	broad.mit.edu	37	5	11565150	11565150	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:11565150G>A	uc003jfa.1	-	2	338	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	CTNND2_uc010itt.2_5'UTR|CTNND2_uc011cmy.1_5'UTR|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	65					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						TCTCGGGTCAGCCTTTCAAAC	0.493000														14			7		0	0	0.001984	0	0
ZIM3	114026	broad.mit.edu	37	19	57646302	57646302	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:57646302C>T	uc002qnz.1	-	4	1789	c.1403G>A	c.(1402-1404)aGa>aAa	p.R468K		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R468I(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAGTGAATTCTTTTCTGGTG	0.423000														62			42		0	0	0.013114	0	0
OR4K15	81127	broad.mit.edu	37	14	20444070	20444070	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr14:20444070C>T	uc010tkx.2	+	0	393	c.393C>T	c.(391-393)ttC>ttT	p.F131F		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCATCTCTTCACTGGCAGTG	0.453000														9			62		0	0	0.014410	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056587	120056587	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:120056587G>A	uc001ehv.1	+	3	586	c.441G>A	c.(439-441)ctG>ctA	p.L147L		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	147					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	AAGAGCCTCTGGAAAACACAT	0.527000														30			59		0	0	0.014410	0	0
TTC39B	158219	broad.mit.edu	37	9	15191202	15191202	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:15191202A>C	uc003zlr.2	-	9	1019	c.982T>G	c.(982-984)Ttt>Gtt	p.F328V	TTC39B_uc003zlq.2_Missense_Mutation_p.F231V|TTC39B_uc011lmp.2_Missense_Mutation_p.F163V|TTC39B_uc010mie.2_Missense_Mutation_p.F326V|TTC39B_uc011lmr.2_Missense_Mutation_p.F259V|TTC39B_uc011lmq.2_Missense_Mutation_p.F328V|TTC39B_uc010mif.2_Missense_Mutation_p.F328V|TTC39B_uc003zls.1_Missense_Mutation_p.F163V|TTC39B_uc010mig.1_Missense_Mutation_p.F231V|TTC39B_uc011lms.2_Non-coding_Transcript	NM_152574	NP_001161814	Q5VTQ0	TT39B_HUMAN	Homo sapiens tetratricopeptide repeat domain 39B (TTC39B), transcript variant 1, mRNA.	262							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TTCCCAGAAAATCCAATAAAT	0.323000														2			10		0	0	0.010729	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217497	150217497	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:150217497C>T	uc003whk.3	+	1	565	c.435C>T	c.(433-435)ttC>ttT	p.F145F	GIMAP7_uc022apu.1_Silent_p.F145F	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	145							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCATGACTTCATAGCAGATG	0.502000														54			26		0	0	0.003954	0	0
TIGD3	220359	broad.mit.edu	37	11	65123630	65123630	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:65123630C>T	uc021qlj.1	+	0	351	c.351C>T	c.(349-351)ttC>ttT	p.F117F	TIGD3_uc001odo.4_Silent_p.F117F	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA.	117	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						GCCAGGACTTCGTGCCCAGCA	0.642000														13			31		0	0	0.008361	0	0
HYDIN	54768	broad.mit.edu	37	16	70891649	70891649	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:70891649G>A	uc002ezr.3	-	71	12402	c.12251C>T	c.(12250-12252)tCt>tTt	p.S4084F	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.	4085										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)				CTTGTTCAGAGAGATGAGAGG	0.483000														36			13		0	0	0.002450	0	0
BAG3	9531	broad.mit.edu	37	10	121429450	121429450	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:121429450C>T	uc001lem.3	+	1	574	c.268C>T	c.(268-270)Cga>Tga	p.R90*	BAG3_uc001lel.3_Nonsense_Mutation_p.R90*	NM_004281	NP_004272	O95817	BAG3_HUMAN	Homo sapiens BCL2-associated athanogene 3 (BAG3), mRNA.	90					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		CCCCCAGCTCCGACCAGGCTA	0.602000														41			24		0	0	0.003330	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629291	1629291	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:1629291C>T	uc001ltw.1	-	0	403	c.325G>A	c.(325-327)Ggg>Agg	p.G109R	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	109	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		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;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CCACAGACCCCCTTGGAACCC	0.662000														39			17		0	0	0.007413	0	0
PM20D1	148811	broad.mit.edu	37	1	205814473	205814473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:205814473C>T	uc001hdj.3	-	2	545	c.469G>A	c.(469-471)Gac>Aac	p.D157N	PM20D1_uc009xbr.3_Non-coding_Transcript	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.	157						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TTCTTGTCGTCCAGTGTGCCC	0.577000														16			21		0	0	0.010504	0	0
FOXD4	2298	broad.mit.edu	37	9	117694	117694	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:117694G>A	uc003zfz.3	-	0	724	c.426C>T	c.(424-426)cgC>cgT	p.R142R		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	142					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGAACTTGCGGCGGTAGTAGG	0.642000														12			60		0	0	0.014410	0	0
CYP2C19	1557	broad.mit.edu	37	10	96602610	96602610	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:96602610G>A	uc010qnz.2	+	6	978	c.978G>A	c.(976-978)gaG>gaA	p.E326E	CYP2C19_uc010qny.2_Silent_p.E304E	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	326					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	p.E326Q(1)		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)	TCCAGGAAGAGATTGAACGTG	0.488000														34			22		0	0	0.005443	0	0
RGS9	8787	broad.mit.edu	37	17	63221400	63221400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:63221400C>T	uc002jfe.3	+	17	1891	c.1688C>T	c.(1687-1689)aCc>aTc	p.T563I	RGS9_uc010dem.3_Missense_Mutation_p.T560I|RGS9_uc002jfd.3_Missense_Mutation_p.T560I|RGS9_uc002jfg.3_Missense_Mutation_p.T334I	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	563					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TCCCTCGACACCTCCTGGCCT	0.662000														5			46		0	0	0.014410	0	0
SPAST	6683	broad.mit.edu	37	2	32340802	32340802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:32340802C>T	uc002roc.3	+	5	1123	c.902C>T	c.(901-903)cCt>cTt	p.P301L	SPAST_uc002rod.3_Missense_Mutation_p.P269L	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN	Homo sapiens spastin (SPAST), transcript variant 1, mRNA.	301	Required for interaction with microtubules and microtubule severing.|Sufficient for interaction with microtubules.|Sufficient for microtubule severing.				ER to Golgi vesicle-mediated transport|cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	ATP binding|alpha-tubulin binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACAAATAAACCTTCTACCCCT	0.318000														28			48		0	0	0.014410	0	0
ABCA10	10349	broad.mit.edu	37	17	67197686	67197686	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:67197686G>T	uc010dfa.1	-	10	2009	c.1130C>A	c.(1129-1131)tCt>tAt	p.S377Y	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'UTR|ABCA10_uc010dfc.1_Intron	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	377					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CGGTTCAAAAGAATCATCAGA	0.333000														6			40		2.58029e-29	3.10886e-29	0.009718	1	0
KRTAP4-12	83755	broad.mit.edu	37	17	39280212	39280212	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:39280212A>C	uc002hwa.3	-	0	208	c.163T>G	c.(163-165)Tgc>Ggc	p.C55G		NM_031854	NP_114060	Q9BQ66	KR412_HUMAN	Homo sapiens keratin associated protein 4-12 (KRTAP4-12), mRNA.	55	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GGCTGACAGCACACAGACTGG	0.687000														4			54		0	0	0.014410	0	0
FLNB	2317	broad.mit.edu	37	3	58067484	58067484	+	Silent	SNP	A	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:58067484A>G	uc003djj.2	+	3	933	c.768A>G	c.(766-768)aaA>aaG	p.K256K	FLNB_uc010hne.2_Silent_p.K256K|FLNB_uc003djk.2_Silent_p.K256K|FLNB_uc010hnf.2_Silent_p.K256K|FLNB_uc003djl.2_Silent_p.K87K|FLNB_uc003djm.2_Silent_p.K87K	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	256					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)		ACCCGAAGAAAGCCAGGGCCT	0.527000														4			29		0	0	0.010818	0	0
SCN11A	11280	broad.mit.edu	37	3	38936092	38936092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:38936092C>T	uc021wvy.1	-	14	2966	c.2767G>A	c.(2767-2769)Gaa>Aaa	p.E923K	SCN11A_uc010hhn.1_Missense_Mutation_p.E39K	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	923					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)	ACGTCATCTTCCTCCTCCGCA	0.498000														16			76		0	0	0.014410	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136323094	136323094	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:136323094A>C	uc004cdv.4	+	27	4399	c.3955A>C	c.(3955-3957)Acg>Ccg	p.T1319P	ADAMTS13_uc004cdp.4_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.T1263P|ADAMTS13_uc004cdu.1_Missense_Mutation_p.T1232P|ADAMTS13_uc004cdw.4_Missense_Mutation_p.T1263P|ADAMTS13_uc004cdx.4_Missense_Mutation_p.T1232P|ADAMTS13_uc004cdz.4_Missense_Mutation_p.T989P|ADAMTS13_uc004cea.1_3'UTR|ADAMTS13_uc004ceb.4_Missense_Mutation_p.T115P|CACFD1_uc011mdg.1_5'Flank|CACFD1_uc011mdi.1_5'Flank|CACFD1_uc004cec.2_5'Flank|CACFD1_uc010nan.2_5'Flank|CACFD1_uc011mdh.1_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	1319	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GAGTCCAGCCACGAGTAATGC	0.607000														3			33		0	0	0.013726	0	0
DNAH9	1770	broad.mit.edu	37	17	11572479	11572479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:11572479G>A	uc002gne.3	+	15	2898	c.2830G>A	c.(2830-2832)Ggt>Agt	p.G944S	DNAH9_uc010coo.3_Missense_Mutation_p.G238S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	944	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)		AGTGAAGGGGGGTTTCTGTGA	0.488000														10			87		0	0	0.014410	0	0
MOV10L1	54456	broad.mit.edu	37	22	50582601	50582601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:50582601C>T	uc003bjj.3	+	17	2517	c.2434C>T	c.(2434-2436)Cgg>Tgg	p.R812W	MOV10L1_uc003bjk.4_Missense_Mutation_p.R812W|MOV10L1_uc011arp.2_Missense_Mutation_p.R792W|MOV10L1_uc003bjl.3_5'Flank	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	812					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)		CGTGTGTCTGCGGCTGCACGA	0.602000														49			111		0	0	0.014410	0	0
LILRA1	11024	broad.mit.edu	37	19	55087523	55087523	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:55087523C>T	uc010ern.3	+	6	1671	c.1202C>T	c.(1201-1203)tCc>tTc	p.S401F	LILRA1_uc002qgg.4_Missense_Mutation_p.S401F|LILRA1_uc002qgf.3_Missense_Mutation_p.S401F|LILRA1_uc010yfe.1_Missense_Mutation_p.S401F|LILRA1_uc010yff.1_Missense_Mutation_p.S389F|LILRA1_uc010ero.3_Missense_Mutation_p.S389F|LILRA1_uc010yfg.1_Intron			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	403	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			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)		TCACTCAGCTCCAACCCCTAC	0.597000														48			27		0	0	0.007291	0	0
CACNA1E	777	broad.mit.edu	37	1	181686402	181686402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:181686402C>T	uc009wxt.3	+	10	1684	c.1489C>T	c.(1489-1491)Cat>Tat	p.H497Y	CACNA1E_uc001gow.3_Missense_Mutation_p.H497Y|CACNA1E_uc009wxs.3_Missense_Mutation_p.H497Y	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	497					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						GGCCATTGTCCATCACAACCA	0.542000														17			35		0	0	0.007835	0	0
PNPLA5	150379	broad.mit.edu	37	22	44282289	44282289	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:44282289G>A	uc003beg.3	-	5	976	c.843C>T	c.(841-843)ggC>ggT	p.G281G	PNPLA5_uc003beh.3_Silent_p.G167G|PNPLA5_uc021wqw.1_Silent_p.G281G|PNPLA5_uc021wqx.1_Silent_p.G167G|PNPLA5_uc011aqc.2_Silent_p.G141G	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	Homo sapiens patatin-like phospholipase domain containing 5 (PNPLA5), transcript variant 1, mRNA.	281					lipid catabolic process		hydrolase activity			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)				GTTGGTCACAGCCAGCATCCC	0.592000														63			32		0	0	0.013726	0	0
LONRF2	164832	broad.mit.edu	37	2	100917174	100917174	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:100917174T>G	uc002tal.4	-	3	1637	c.997A>C	c.(997-999)Aag>Cag	p.K333Q	LONRF2_uc010yvs.2_Non-coding_Transcript	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.	333					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						CCCTGAGCCTTTAATCTGCTT	0.438000														18			44		0	0	0.009718	0	0
KIAA1456	57604	broad.mit.edu	37	8	12878930	12878930	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:12878930C>T	uc010lsq.3	+	4	1234	c.742C>T	c.(742-744)Cgt>Tgt	p.R248C	KIAA1456_uc011kxw.2_Intron|KIAA1456_uc003wwj.4_Missense_Mutation_p.R161C|KIAA1456_uc010lsr.3_Missense_Mutation_p.R122C	NM_020844	NP_001093147	Q9P272	K1456_HUMAN	Homo sapiens KIAA1456 (KIAA1456), transcript variant 1, mRNA.	248							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						AAAATCGTTTCGTTCCTGGTT	0.418000														44			38		0	0	0.005524	0	0
ANKRD29	147463	broad.mit.edu	37	18	21226194	21226194	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr18:21226194C>T	uc002kun.3	-	2	345	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	ANKRD29_uc002kuo.3_Missense_Mutation_p.E64K	NM_173505	NP_775776	Q8N6D5	ANR29_HUMAN	Homo sapiens ankyrin repeat domain 29 (ANKRD29), mRNA.	64										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGAACCAGTTCCCTCACACAG	0.502000														21			24		0	0	0.004656	0	0
SUPT5H	6829	broad.mit.edu	37	19	39964645	39964645	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:39964645C>T	uc002olo.4	+	25	2714	c.2535C>T	c.(2533-2535)acC>acT	p.T845T	SUPT5H_uc002olp.4_Silent_p.T845T|SUPT5H_uc002olq.4_Silent_p.T841T|SUPT5H_uc002oln.4_Silent_p.T845T|SUPT5H_uc002olr.4_Silent_p.T845T|SUPT5H_uc002ols.1_Silent_p.T468T	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	845	10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATGAGCCCACCCCGTCCCCGC	0.567000											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		40			42		0	0	0.011902	0	0
SLC9A4	389015	broad.mit.edu	37	2	103120072	103120072	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:103120072C>T	uc002tbz.4	+	2	1343	c.886C>T	c.(886-888)Cag>Tag	p.Q296*		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	296					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ACGTTTCACTCAGAATATCTC	0.453000														20			33		0	0	0.010818	0	0
ZNF501	115560	broad.mit.edu	37	3	44776024	44776024	+	Silent	SNP	T	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:44776024T>C	uc003cnu.1	+	2	512	c.111T>C	c.(109-111)ctT>ctC	p.L37L	ZNF501_uc021wwq.1_Silent_p.L37L	NM_145044	NP_659481	Q96CX3	ZN501_HUMAN	Homo sapiens zinc finger protein 501 (ZNF501), mRNA.	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		GATCATCTCTTACCCAGCACC	0.418000														1			26		0	0	0.006320	0	0
CDYL2	124359	broad.mit.edu	37	16	80638443	80638443	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:80638443C>T	uc002ffs.3	-	7	1468	c.1363_splice	c.e7-1	p.V455_splice		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	455						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TCCTCTAACACCTAGAGGGAA	0.562000														43			46		0	0	0.014410	0	0
IPO8	10526	broad.mit.edu	37	12	30827670	30827670	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:30827670A>T	uc001rjd.3	-	6	1095	c.747T>A	c.(745-747)gaT>gaA	p.D249E	IPO8_uc010sjt.2_Missense_Mutation_p.D44E	NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	249					intracellular protein transport|signal transduction	cytoplasm|nucleus	Ran GTPase binding|protein transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TATCATCCTCATCAATGTGCA	0.368000														117			88		0	0	0.014410	0	0
SLC12A5	57468	broad.mit.edu	37	20	44663613	44663613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:44663613C>T	uc010zxl.1	+	1	224	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S	SLC12A5_uc002xra.2_Missense_Mutation_p.P27S|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.P27S	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	50					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGAAAGCAGTCCCTTCATCAA	0.547000														47			34		0	0	0.007835	0	0
SF1	7536	broad.mit.edu	37	11	64537796	64537796	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:64537796C>T	uc001obb.2	-	3	773	c.321G>A	c.(319-321)gaG>gaA	p.E107E	SF1_uc010rnm.2_5'Flank|SF1_uc010rnn.2_Silent_p.E81E|SF1_uc001oaz.2_Silent_p.E232E|SF1_uc001oba.2_Silent_p.E107E|SF1_uc001obd.2_Silent_p.E107E|SF1_uc001obc.2_Silent_p.E107E|SF1_uc001obe.2_5'UTR|SF1_uc010rno.2_5'UTR	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	107					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	RNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TGTGCCGCTCCTCTTCCAGCT	0.552000														77			10		0	0	0.013537	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102449438	102449438	+	Silent	SNP	G	A	A	rs144254264		TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr14:102449438G>A	uc001yks.2	+	5	1208	c.1044G>A	c.(1042-1044)acG>acA	p.T348T		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	348	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGTCTGCCACGGAGCTGGACA	0.418000														7			36		0	0	0.003755	0	0
KLHL14	57565	broad.mit.edu	37	18	30260234	30260234	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr18:30260234C>T	uc002kxm.1	-	6	1874	c.1486G>A	c.(1486-1488)Gat>Aat	p.D496N		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	496						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GCCCAGACATCCATTACTGGG	0.398000														50			14		0	0	0.004990	0	0
PRKCA	5578	broad.mit.edu	37	17	64641630	64641630	+	Splice_Site	SNP	G	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:64641630G>T	uc002jfo.1	+	6	634	c.142_splice	c.e6+1	p.V48_splice	PRKCA_uc002jfp.1_Splice_Site_p.V177_splice			P17252	KPCA_HUMAN	Homo sapiens protein kinase C, alpha (PRKCA), mRNA.	177					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CATGTCACAGGTAAGGCTTGC	0.552000														7			39		1.5731e-28	1.8928e-28	0.011902	1	0
PAK1	5058	broad.mit.edu	37	11	77034362	77034362	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:77034362G>A	uc001oyh.4	-	14	2128	c.1595C>T	c.(1594-1596)cCa>cTa	p.P532L	PAK1_uc010rso.2_Silent_p.S450S|PAK1_uc001oyg.4_Silent_p.S548S|PAK1_uc001oyi.1_Intron|PAK1_uc010rsn.2_Missense_Mutation_p.P245L	NM_002576	NP_002567	Q13153	PAK1_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 1 (PAK1), transcript variant 2, mRNA.	532					ER-nucleus signaling pathway|T cell costimulation|T cell receptor signaling pathway|apoptosis|axon guidance|cytoskeleton organization|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation	Golgi apparatus|cytosol|focal adhesion	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					AGCAATCAGTGGAGTGAGGCT	0.438000														23			4		0	0	0.009096	0	0
WDR7	23335	broad.mit.edu	37	18	54349978	54349978	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr18:54349978C>T	uc002lgk.1	+	4	625	c.414C>T	c.(412-414)atC>atT	p.I138I	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Silent_p.I138I	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	138										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		ACCCTGAAATCCTTGTTGTGG	0.413000														41			48		0	0	0.014410	0	0
SACS	26278	broad.mit.edu	37	13	23912862	23912862	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:23912862G>A	uc001uon.2	-	9	5742	c.5153C>T	c.(5152-5154)tCc>tTc	p.S1718F	SACS_uc001uoo.2_Missense_Mutation_p.S1571F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1718					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGAAGAGCAGGATTTTTTTTT	0.358000														8			16		0	0	0.004990	0	0
POM121L12	285877	broad.mit.edu	37	7	53103784	53103784	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:53103784G>A	uc003tpz.3	+	0	436	c.420G>A	c.(418-420)ggG>ggA	p.G140G		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	140								p.I139M(1)|p.I139I(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGACCATCGGGATCGCGCCCC	0.711000														12			22		0	0	0.012319	0	0
EPHB2	2048	broad.mit.edu	37	1	23237024	23237024	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:23237024C>T	uc009vqj.1	+	13	2797	c.2652C>T	c.(2650-2652)atC>atT	p.I884I	EPHB2_uc001bge.3_Silent_p.I885I|EPHB2_uc001bgf.3_Silent_p.I884I|EPHB2_uc010odu.2_Silent_p.I826I	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	884	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACAAGATGATCCGCAATCCCA	0.642000														30			7		0	0	0.001984	0	0
EPHA3	2042	broad.mit.edu	37	3	89259572	89259572	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:89259572C>T	uc003dqy.3	+	2	941	c.716C>T	c.(715-717)cCt>cTt	p.P239L	EPHA3_uc003dqx.1_Missense_Mutation_p.P239L|EPHA3_uc021xbf.1_Missense_Mutation_p.P239L	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	239	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding	p.P239T(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GAGGAAGATCCTCCAAGGATG	0.488000										TSP Lung(6;0.00050)				108			274		0	0	0.014410	0	0
RERGL	79785	broad.mit.edu	37	12	18234317	18234317	+	Silent	SNP	T	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:18234317T>A	uc001rdq.3	-	5	620	c.426A>T	c.(424-426)gcA>gcT	p.A142A		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	142	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity	p.A142S(1)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						GGTTTTCCAGTGCCAGCTTTT	0.453000														42			10		0	0	0.008291	0	0
NCAM1	4684	broad.mit.edu	37	11	113103514	113103514	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:113103514G>A	uc021qqp.1	+	12	1944	c.1572G>A	c.(1570-1572)ttG>ttA	p.L524L	NCAM1_uc001pnp.3_Silent_p.L488L|NCAM1_uc021qqo.1_Silent_p.L488L|NCAM1_uc001pnq.3_Silent_p.L498L|NCAM1_uc001pnr.3_Silent_p.L488L	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	500	Fibronectin type-III 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)		AGGAGTCCTTGGAATTCATCC	0.502000														31			8		0	0	0.006214	0	0
PDS5B	23047	broad.mit.edu	37	13	33261421	33261421	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:33261421C>T	uc010abf.3	+	12	1541	c.1355_splice	c.e12+1	p.R452_splice	PDS5B_uc001uuo.3_Splice_Site_p.R452_splice|PDS5B_uc010abg.3_Splice_Site|PDS5B_uc010teb.2_Splice_Site_p.R154_splice	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	452					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TATTGATGATCGGTAAGTTAA	0.299000														15			19		0	0	0.006122	0	0
CRNKL1	51340	broad.mit.edu	37	20	20029057	20029057	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:20029057G>A	uc002wrs.3	-	4	900	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	CRNKL1_uc002wrt.1_Missense_Mutation_p.R278C	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	290					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TTGACTTGGCGATTCTTCATT	0.433000														30			31		0	0	0.010818	0	0
SHANK2	22941	broad.mit.edu	37	11	70331599	70331599	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:70331599C>T	uc001oqc.3	-	20	4713	c.4601G>A	c.(4600-4602)aGg>aAg	p.R1534K	SHANK2_uc010rqn.2_Missense_Mutation_p.R1010K|SHANK2_uc001opz.3_Missense_Mutation_p.R1005K|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1221					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTTGGAGGTCCTTGGCTGGAG	0.567000														47			24		0	0	0.008361	0	0
CES3	23491	broad.mit.edu	37	16	66997462	66997463	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:66997462_66997463CC>TT	uc002eqt.3	+	2	435_436	c.356_357CC>TT	c.(355-357)tcc>tTT	p.S119F	CES3_uc010cdz.3_Missense_Mutation_p.S119F	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	119						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CAGATCTTCTCCGTTTCAGAGG	0.604000														15			26		0	0	0.004672	0	0
HTR3B	9177	broad.mit.edu	37	11	113802525	113802525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:113802525G>A	uc001pok.3	+	3	442	c.304G>A	c.(304-306)Gag>Aag	p.E102K	HTR3B_uc001pol.3_Missense_Mutation_p.E91K	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	102					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CATGTTTGATGAGATTAGAGA	0.418000														40			5		0	0	0.001168	0	0
AHCYL2	23382	broad.mit.edu	37	7	129049373	129049373	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:129049373T>C	uc011kov.2	+	10	1415	c.1352T>C	c.(1351-1353)gTt>gCt	p.V451A	AHCYL2_uc003vot.3_Missense_Mutation_p.V450A|AHCYL2_uc003vov.3_Missense_Mutation_p.V348A|AHCYL2_uc011kox.2_Missense_Mutation_p.V348A	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA.	451					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GTGGACATTGTTATTACCTGT	0.388000														28			67		0	0	0.014410	0	0
OR2A25	392138	broad.mit.edu	37	7	143771444	143771444	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:143771444C>T	uc011ktx.2	+	0	132	c.132C>T	c.(130-132)atC>atT	p.I44I		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					ACGGGACAATCCTGGGGCTCA	0.557000														73			29		0	0	0.006320	0	0
HERC2	8924	broad.mit.edu	37	15	28358775	28358776	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:28358775_28358776GG>AA	uc001zbj.3	-	90	14068_14069	c.13962_13963CC>TT	c.(13960-13965)gcccgc>gcTTgc	p.R4655C	HERC2_uc001zbi.3_Missense_Mutation_p.R344C	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	4655	HECT.				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)		GGCACAACGCGGGCCATTCCTT	0.545000														23			20		0	0	0.004672	0	0
OR52J3	119679	broad.mit.edu	37	11	5068174	5068174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:5068174C>T	uc010qyv.2	+	0	419	c.419C>T	c.(418-420)tCc>tTc	p.S140F		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		ATCTTGACATCCCAAGTGTTG	0.488000														32			6		0	0	0.001168	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319179	21319179	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:21319179C>T	uc021tss.1	+	2	895	c.525C>T	c.(523-525)ttC>ttT	p.F175F	KCNJ18_uc002gyv.1_Silent_p.F175F|KCNJ18_uc021tst.1_Silent_p.F175F	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	175						integral to membrane	inward rectifier potassium channel activity										TCGACTCCTTCATGATTGGTG	0.637000														22			10		0	0	0.013537	0	0
SLC22A9	114571	broad.mit.edu	37	11	63141131	63141131	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:63141131C>T	uc001nww.3	+	2	790	c.522C>T	c.(520-522)ttC>ttT	p.F174F	SLC22A9_uc001nwx.3_Intron	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	174					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GGAGAAGGTTCGTGCTCAGAT	0.458000														6			22		0	0	0.012319	0	0
DSG3	1830	broad.mit.edu	37	18	29041337	29041337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr18:29041337G>A	uc002kws.3	+	7	1070	c.961G>A	c.(961-963)Gat>Aat	p.D321N		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	321	Cadherin 3.				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)			AATACAAACTGATCCTAGAAC	0.343000														19			25		0	0	0.007291	0	0
APOB	338	broad.mit.edu	37	2	21233061	21233061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:21233061G>A	uc002red.3	-	25	6807	c.6679C>T	c.(6679-6681)Cat>Tat	p.H2227Y		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2227					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)	TGTAGATCATGGATTGTTTTT	0.269000														136			308		0	0	0.014410	0	0
MAP1A	4130	broad.mit.edu	37	15	43821004	43821004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:43821004C>T	uc001zrt.3	+	3	7800	c.7333C>T	c.(7333-7335)Cgt>Tgt	p.R2445C		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2445						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)	TCGGCCCCATCGTGGGGAGCT	0.647000														33			16		0	0	0.006122	0	0
RALGAPB	57148	broad.mit.edu	37	20	37191301	37191301	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:37191301T>A	uc002xiw.3	+	23	3915	c.3658T>A	c.(3658-3660)Tct>Act	p.S1220T	RALGAPB_uc002xix.3_Missense_Mutation_p.S1216T|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.3_Missense_Mutation_p.S998T	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	1220	Rap-GAP.				activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TACCAGTTGGTCTATTAATTG	0.398000														30			27		0	0	0.008361	0	0
LTBP2	4053	broad.mit.edu	37	14	74971811	74971811	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr14:74971811G>A	uc001xqa.3	-	28	4631	c.4244C>T	c.(4243-4245)tCc>tTc	p.S1415F		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1415	TB 3.				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)		CTTCTGCCCGGAGTAGCAGTC	0.637000														0			35		0	0	0.013726	0	0
TCF4	6925	broad.mit.edu	37	18	52928712	52928712	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr18:52928712C>T	uc002lga.3	-	12	1341	c.1281G>A	c.(1279-1281)ggG>ggA	p.G427G	TCF4_uc021ukg.1_Silent_p.G165G|TCF4_uc021ukh.1_Silent_p.G165G|TCF4_uc002lfw.4_Silent_p.G165G|TCF4_uc010xdu.1_Silent_p.G195G|TCF4_uc010xdv.1_Silent_p.G195G|TCF4_uc021uki.1_Silent_p.G254G|TCF4_uc002lfx.2_Silent_p.G254G|TCF4_uc010xdw.1_Silent_p.G195G|TCF4_uc002lfy.2_Silent_p.G283G|TCF4_uc010xdx.1_Silent_p.G301G|TCF4_uc021ukj.1_Silent_p.G265G|TCF4_uc021ukk.1_Silent_p.G265G|TCF4_uc021ukl.1_Silent_p.G323G|TCF4_uc002lfz.2_Silent_p.G325G|TCF4_uc010dph.1_Silent_p.G325G|TCF4_uc010dpi.3_Silent_p.G331G|TCF4_uc010xdy.1_Silent_p.G301G	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	325					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)		CAAGTGCTTTCCCCAGAGCAT	0.448000														174			62		0	0	0.014410	0	0
PTPRT	11122	broad.mit.edu	37	20	41306560	41306560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:41306560C>T	uc002xkg.3	-	6	1283	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	PTPRT_uc010ggj.3_Missense_Mutation_p.E367K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	367	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	p.G366V(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)				GTACCCCCCTCACCTGGTCGT	0.557000														52			52		0	0	0.014410	0	0
KIF15	56992	broad.mit.edu	37	3	44872506	44872506	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:44872506T>A	uc003cnx.4	+	25	3316	c.3167T>A	c.(3166-3168)aTa>aAa	p.I1056K	KIF15_uc010hiq.3_Missense_Mutation_p.I959K|KIF15_uc010hir.3_Missense_Mutation_p.I104K	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	1056					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)		TCTGAGGACATAGAGGTAGGT	0.373000														6			49		0	0	0.014410	0	0
ACBD3	64746	broad.mit.edu	37	1	226352628	226352628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:226352628C>T	uc001hpy.3	-	2	478	c.431G>A	c.(430-432)aGa>aAa	p.R144K		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	Homo sapiens acyl-CoA binding domain containing 3 (ACBD3), mRNA.	144	ACB.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TGCCCATTCTCTCCTGTAAGG	0.363000														25			8		0	0	0.003080	0	0
NDST4	64579	broad.mit.edu	37	4	115891704	115891704	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:115891704A>C	uc003ibu.3	-	3	1782	c.1103T>G	c.(1102-1104)cTt>cGt	p.L368R	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	368	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)		CACAGACCGAAGTAAAAGGTC	0.388000														2			20		0	0	0.002780	0	0
IRX6	79190	broad.mit.edu	37	16	55362701	55362701	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:55362701G>A	uc002ehy.3	+	4	1344	c.811G>A	c.(811-813)Gac>Aac	p.D271N	IRX6_uc002ehx.3_Missense_Mutation_p.D271N	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	271						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						ggaagctgaagacgaggaggT	0.637000														13			23		0	0	0.014323	0	0
ASNS	440	broad.mit.edu	37	7	97488681	97488681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:97488681G>A	uc003uot.4	-	4	1023	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S	ASNS_uc011kin.2_Missense_Mutation_p.P90S|ASNS_uc011kio.2_Missense_Mutation_p.P152S|ASNS_uc003uou.4_Missense_Mutation_p.P173S|ASNS_uc003uov.4_Missense_Mutation_p.P173S|ASNS_uc003uox.4_Missense_Mutation_p.P90S	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	173	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	ATP binding|asparagine synthase (glutamine-hydrolyzing) activity			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTTAAAAAGGGAGTCGCGGAG	0.368000														49			88		0	0	0.014410	0	0
CALM2	805	broad.mit.edu	37	2	47388964	47388964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:47388964G>A	uc002rvt.2	-	4	477	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C	C2orf61_uc010fbd.3_Intron	NM_001743	NP_005175	P62158	CALM_HUMAN	Homo sapiens calmodulin 2 (phosphorylase kinase, delta) (CALM2), mRNA.	107	EF-hand 3.				G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	N-terminal myristoylation domain binding|calcium ion binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	p.0?(2)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	ATCACATGGCGAAGTTCTGCA	0.363000														51			12		0	0	0.003163	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16876447	16876447	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:16876447G>A	uc010rcu.1	-	5	526	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L	PLEKHA7_uc001mmo.3_Silent_p.L171L	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	171	PH.				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						TGCTTGTGCAGCCAGCCCCTC	0.552000														19			26		0	0	0.006320	0	0
SLC10A2	6555	broad.mit.edu	37	13	103703678	103703678	+	Silent	SNP	T	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:103703678T>C	uc001vpy.4	-	3	1287	c.690A>G	c.(688-690)ggA>ggG	p.G230G		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	230					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)					GAAATATTGTTCCTATAATCC	0.488000														17			13		0	0	0.003163	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	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														267			31		0	0	0.005524	0	0
CCDC87	55231	broad.mit.edu	37	11	66358614	66358614	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:66358614C>A	uc001oiq.4	-	0	1941	c.1873G>T	c.(1873-1875)Gtg>Ttg	p.V625L	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	625										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGGGGCCACAATCTCCACA	0.478000														44			23		2.21704e-12	2.63919e-12	0.002780	1	0
OR1B1	347169	broad.mit.edu	37	9	125390912	125390912	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:125390912C>T	uc011lyz.2	-	0	903	c.903G>A	c.(901-903)aaG>aaA	p.K301K		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						CCTTGACATCCTTATTGTGGA	0.488000														5			26		0	0	0.003954	0	0
HNF4A	3172	broad.mit.edu	37	20	42984463	42984464	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:42984463_42984464CC>TT	uc002xlv.3	+	0	23_24	c.19_20CC>TT	c.(19-21)ccc>TTc	p.P7F	HNF4A_uc010zwo.1_5'UTR|HNF4A_uc002xlt.3_Missense_Mutation_p.P7F|HNF4A_uc002xlu.3_Missense_Mutation_p.P7F	NM_175914	NP_787110	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 4, mRNA.	155					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			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)			CGTGAACGCGCCCCTCGGGGCT	0.683000														137			98		0	0	0.004672	0	0
CYP4A22	284541	broad.mit.edu	37	1	47606542	47606542	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:47606542C>T	uc001cqv.1	+	1	337	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	CYP4A22_uc009vyo.3_Missense_Mutation_p.R96C|CYP4A22_uc009vyp.3_Missense_Mutation_p.R96C	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	96						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGCAAAGTTCGTGTCCAGCT	0.502000														30			67		0	0	0.014410	0	0
FBXW7	55294	broad.mit.edu	37	4	153271233	153271233	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:153271233G>A	uc003ims.3	-	2	707	c.545C>T	c.(544-546)tCt>tTt	p.S182F	FBXW7_uc011cii.2_Missense_Mutation_p.S182F|FBXW7_uc003imt.3_Missense_Mutation_p.S182F|FBXW7_uc011cih.2_5'Flank|FBXW7_uc003imq.3_Missense_Mutation_p.S102F|FBXW7_uc003imr.3_Missense_Mutation_p.S64F	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	182					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.S182fs*57(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)				CTTTCCCAAAGAAAAAGAGCG	0.299000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""									0			4		0	0	0.000602	0	0
PHLDB2	90102	broad.mit.edu	37	3	111632506	111632506	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:111632506C>G	uc010hqa.3	+	2	2087	c.1676C>G	c.(1675-1677)cCg>cGg	p.P559R	PHLDB2_uc003dyc.3_Missense_Mutation_p.P586R|PHLDB2_uc003dyd.3_Missense_Mutation_p.P559R|PHLDB2_uc003dyg.3_Missense_Mutation_p.P559R|PHLDB2_uc003dyh.3_Missense_Mutation_p.P559R|PHLDB2_uc003dyi.3_Missense_Mutation_p.P145R|PHLDB2_uc003dyf.4_Missense_Mutation_p.P559R	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	559						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TCCACCTTTCCGAAAGCTTCC	0.502000														101			73		0	0	0.014410	0	0
LRIT2	340745	broad.mit.edu	37	10	85981699	85981699	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:85981699C>T	uc010qmc.2	-	3	1668	c.1660G>A	c.(1660-1662)Gga>Aga	p.G554R	LRIT2_uc001kcy.3_Missense_Mutation_p.G544R	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	544						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						TCCGTTCCTCCTTTCTCCTTG	0.562000														27			29		0	0	0.013726	0	0
PI16	221476	broad.mit.edu	37	6	36930773	36930773	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:36930773T>C	uc021yzd.1	+	5	878	c.655T>C	c.(655-657)Ttc>Ctc	p.F219L	PI16_uc003omz.1_Missense_Mutation_p.F219L|PI16_uc003ona.3_Missense_Mutation_p.F219L|PI16_uc011dts.1_5'UTR	NM_001199159	NP_001186088	Q6UXB8	PI16_HUMAN	Homo sapiens peptidase inhibitor 16 (PI16), transcript variant 2, mRNA.	219						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCCCCATCCTTCCGGGCGAC	0.542000														18			24		0	0	0.003954	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140741396	140741397	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:140741396_140741397CC>TT	uc003ljs.2	+	0	1694_1695	c.1694_1695CC>TT	c.(1693-1695)ccc>cTT	p.P565L	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.P565L|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	567					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)			GTGCTGTACCCCGCGCTGGGGC	0.693000														6			22		0	0	0.004672	0	0
OR51I1	390063	broad.mit.edu	37	11	5462531	5462531	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:5462531C>T	uc010qze.2	-	0	253	c.214G>A	c.(214-216)Gat>Aat	p.D72N	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.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		ACTCCCAGATCATTGAGAGCG	0.463000														17			20		0	0	0.007413	0	0
TACR3	6870	broad.mit.edu	37	4	104640528	104640528	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:104640528C>T	uc003hxe.1	-	0	446	c.305G>A	c.(304-306)gGa>gAa	p.G102E		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	102						integral to plasma membrane	tachykinin receptor activity			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)		GATGAGATTTCCCAAAACTGC	0.597000														27			39		0	0	0.008740	0	0
MAST4	375449	broad.mit.edu	37	5	66459023	66459023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:66459023C>T	uc021xzk.1	+	28	4324	c.4016C>T	c.(4015-4017)tCc>tTc	p.S1339F	MAST4_uc003jut.2_Missense_Mutation_p.S1150F|MAST4_uc003juw.3_Missense_Mutation_p.S1078F|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1342	Ser-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCCCCCAATTCCCCAGCAGGG	0.602000														16			62		0	0	0.014410	0	0
TRPM3	80036	broad.mit.edu	37	9	73235016	73235016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:73235016G>A	uc004aid.3	-	14	2313	c.2069C>T	c.(2068-2070)tCc>tTc	p.S690F	TRPM3_uc004ahu.3_Missense_Mutation_p.S520F|TRPM3_uc004ahv.3_Missense_Mutation_p.S492F|TRPM3_uc004ahw.3_Missense_Mutation_p.S562F|TRPM3_uc004ahx.3_Missense_Mutation_p.S549F|TRPM3_uc004ahy.3_Missense_Mutation_p.S552F|TRPM3_uc004ahz.3_Missense_Mutation_p.S539F|TRPM3_uc004aia.3_Missense_Mutation_p.S537F|TRPM3_uc004aib.3_Missense_Mutation_p.S527F|TRPM3_uc004aic.3_Missense_Mutation_p.S690F	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	715						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						CAGCTCCTGGGAAATGTCGTC	0.602000														5			26		0	0	0.005443	0	0
MYO18B	84700	broad.mit.edu	37	22	26294398	26294398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:26294398G>A	uc003abz.1	+	28	5043	c.4793G>A	c.(4792-4794)cGa>cAa	p.R1598Q	MYO18B_uc003aca.1_Missense_Mutation_p.R1479Q|MYO18B_uc010guy.1_Missense_Mutation_p.R1480Q|MYO18B_uc010guz.1_Missense_Mutation_p.R1478Q|MYO18B_uc011aka.1_Missense_Mutation_p.R752Q|MYO18B_uc011akb.1_Missense_Mutation_p.R1111Q	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1598	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						CAACAAAGTCGAAACCATGAG	0.537000														133			42		0	0	0.014410	0	0
TNRC6A	27327	broad.mit.edu	37	16	24828142	24828142	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:24828142C>T	uc002dmm.3	+	19	4951	c.4837C>T	c.(4837-4839)Cgt>Tgt	p.R1613C	TNRC6A_uc010bxs.3_Missense_Mutation_p.R1360C|TNRC6A_uc002dmn.3_Missense_Mutation_p.R1311C|TNRC6A_uc002dmo.3_Missense_Mutation_p.R1252C	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	1613					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)		TCCAGAATTTCGTCCTGGTGA	0.343000														45			31		0	0	0.003271	0	0
abParts	0	broad.mit.edu	37	14	106405839	106405839	+	RNA	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr14:106405839G>A	uc021ser.1	-	3033		c.49953C>T								Parts of antibodies, mostly variable regions.																		CACTGTCCCCGGAGATGGCAC	0.572000														7			33		0	0	0.012213	0	0
PAPD7	11044	broad.mit.edu	37	5	6746461	6746461	+	Silent	SNP	C	T	T	rs28381391	byFrequency	TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:6746461C>T	uc003jdx.1	+	6	759	c.630C>T	c.(628-630)atC>atT	p.I210I	PAPD7_uc011cmn.2_Silent_p.I210I|PAPD7_uc010itl.1_Silent_p.I30I	NM_006999	NP_001165277	Q5XG87	PAPD7_HUMAN	Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA.	210	PAP-associated.				DNA replication|cell division|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|SMC protein binding|metal ion binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTGCCTATATCGCCAAAGAGG	0.458000														58			57		0	0	0.014410	0	0
APLNR	187	broad.mit.edu	37	11	57003516	57003516	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:57003516G>A	uc001njo.3	-	0	1412	c.963C>T	c.(961-963)acC>acT	p.T321T	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	321						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						AGAGCATGGAGGTGCAGGCCT	0.627000														12			16		0	0	0.004007	0	0
SETX	23064	broad.mit.edu	37	9	135158696	135158696	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:135158696G>A	uc004cbk.3	-	18	6684	c.6501C>T	c.(6499-6501)ttC>ttT	p.F2167F	SETX_uc004cbj.3_Silent_p.F1786F|SETX_uc010mzt.3_Silent_p.F1786F	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	2167					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTTGCCCACGGAAAGCAGACT	0.473000														4			28		0	0	0.008361	0	0
FILIP1L	11259	broad.mit.edu	37	3	99567926	99567926	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:99567926C>T	uc003dtm.3	-	4	3057	c.2594G>A	c.(2593-2595)tGg>tAg	p.W865*	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Nonsense_Mutation_p.W865*|FILIP1L_uc010hpf.3_Nonsense_Mutation_p.W441*|FILIP1L_uc010hpg.3_Nonsense_Mutation_p.W625*|FILIP1L_uc003dtn.3_Nonsense_Mutation_p.W625*|FILIP1L_uc021xbr.1_Nonsense_Mutation_p.W625*|FILIP1L_uc003dtp.1_Nonsense_Mutation_p.W625*	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	865						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GGATTTCATCCAGGGAATCCA	0.463000														67			68		0	0	0.014410	0	0
SLC4A7	9497	broad.mit.edu	37	3	27444793	27444793	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:27444793C>T	uc011aww.2	-	14	2379	c.2158G>A	c.(2158-2160)Gat>Aat	p.D720N	SLC4A7_uc011awx.2_Missense_Mutation_p.D707N|SLC4A7_uc021wun.1_Missense_Mutation_p.D596N|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.D703N|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.D592N|SLC4A7_uc011axb.2_Missense_Mutation_p.D707N|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.D592N|SLC4A7_uc010hfl.3_Missense_Mutation_p.D261N|SLC4A7_uc003cdv.3_Missense_Mutation_p.D711N|SLC4A7_uc003cdw.3_Missense_Mutation_p.D587N	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	711						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CTGCTTGCATCTGTTGCAACC	0.368000														9			48		0	0	0.014410	0	0
C10orf12	26148	broad.mit.edu	37	10	98743944	98743944	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:98743944C>G	uc001kmv.3	+	0	2904	c.2797C>G	c.(2797-2799)Cct>Gct	p.P933A		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	933										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)		GAAGAAATTTCCTGGAGCTAC	0.473000														40			29		0	0	0.007291	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88813196	88813196	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:88813196G>A	uc010iko.1	+	0	202	c.202G>A	c.(202-204)Ggt>Agt	p.G68S						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		GTTGGACAGTGGTAAAGAGCT	0.458000														26			9		0	0	0.006214	0	0
PRB4	5545	broad.mit.edu	37	12	11461501	11461501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:11461501C>T	uc001qzf.1	-	2	450	c.416G>A	c.(415-417)gGa>gAa	p.G139E	PRB4_uc001qzt.3_Missense_Mutation_p.G139E	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	202	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.		Missing (in allele M and allele S).			extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TTCTGGCTTTCCTGGAGGAGG	0.602000										HNSCC(22;0.051)				142			100		0	0	0.014410	0	0
PARN	5073	broad.mit.edu	37	16	14721147	14721147	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:14721147T>C	uc010uzd.2	-	3	370	c.224A>G	c.(223-225)aAg>aGg	p.K75R	PARN_uc010uzc.2_Missense_Mutation_p.K14R|PARN_uc010uze.2_Intron|PARN_uc010uzf.2_Intron|PARN_uc010uzg.2_Non-coding_Transcript	NM_002582	NP_001127949	O95453	PARN_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN), transcript variant 1, mRNA.	75					RNA modification|female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleolus	mRNA 3'-UTR binding|metal ion binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						GTAGTCATACTTAAAAGTGCA	0.388000														9			3		0	0	0.004672	0	0
C12orf26	84190	broad.mit.edu	37	12	82792590	82792590	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:82792590C>T	uc001szq.3	+	3	617	c.548C>T	c.(547-549)tCc>tTc	p.S183F		NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN	Homo sapiens chromosome 12 open reading frame 26 (C12orf26), mRNA.	183										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	19						GACTTGGGTTCCGGTAAAGGC	0.318000														6			26		0	0	0.008361	0	0
TTN	7273	broad.mit.edu	37	2	179596608	179596608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:179596608G>A	uc021vsy.1	-	54	13487	c.13262C>T	c.(13261-13263)cCc>cTc	p.P4421L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P1082L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5348	Ig-like 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P4421H(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)			GATCTCAAAGGGAGGAGTGCC	0.423000														94			23		0	0	0.002780	0	0
TNN	63923	broad.mit.edu	37	1	175046622	175046622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:175046622C>T	uc001gkl.1	+	1	181	c.68C>T	c.(67-69)tCg>tTg	p.S23L	TNN_uc010pmx.1_Missense_Mutation_p.S23L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	23					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.S23L(4)|p.A22S(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)		CTGGTGGCTTCGGCCCCAGCC	0.592000														10			39		0	0	0.008740	0	0
KNDC1	85442	broad.mit.edu	37	10	135032453	135032453	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:135032453C>T	uc001llz.1	+	26	4797	c.4796C>T	c.(4795-4797)tCc>tTc	p.S1599F		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1599	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)		GTGAGGCAGTCCCCTGTGCGT	0.602000														6			15		0	0	0.002450	0	0
OBSCN	84033	broad.mit.edu	37	1	228465557	228465557	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:228465557A>T	uc009xez.1	+	24	6901	c.6857A>T	c.(6856-6858)aAg>aTg	p.K2286M	OBSCN_uc001hsn.3_Missense_Mutation_p.K2286M|OBSCN_uc001hsp.1_5'UTR|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2286					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)				CTCCGAGTGAAGGGTGAGGTG	0.627000														28			9		0	0	0.010729	0	0
ADH7	131	broad.mit.edu	37	4	100349083	100349083	+	Silent	SNP	G	C	C	rs1042111		TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:100349083G>C	uc003huv.2	-	4	688	c.447C>G	c.(445-447)gtC>gtG	p.V149V	ADH7_uc021xqj.1_Silent_p.V157V	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	149					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)	TGAAGTGGTGGACTGGTTTGC	0.423000														55			19		0	0	0.007413	0	0
ABTB2	25841	broad.mit.edu	37	11	34181535	34181535	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:34181535T>C	uc001mvl.2	-	12	2949	c.2524A>G	c.(2524-2526)Aag>Gag	p.K842E		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA.	656							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GACATCTCCTTATTGTTCAAA	0.498000														35			12		0	0	0.001855	0	0
CECR2	27443	broad.mit.edu	37	22	17976607	17976607	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:17976607G>A	uc010gqw.1	+	1	268	c.268G>A	c.(268-270)Gat>Aat	p.D90N	CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'Flank	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	132					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)		CGATGTCTTCGATCTTCTAAA	0.502000														105			30		0	0	0.010818	0	0
SRPK1	6732	broad.mit.edu	37	6	35806137	35806137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:35806137G>A	uc003olj.3	-	14	1884	c.1760C>T	c.(1759-1761)tCc>tTc	p.S587F	SRPK1_uc003olh.3_Missense_Mutation_p.S480F|SRPK1_uc003oli.3_Missense_Mutation_p.S480F|SRPK1_uc011dtg.2_Missense_Mutation_p.S571F	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.	587	Protein kinase.				RNA splicing|cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						AAATTCCTTGGAATATTTTCC	0.388000														3			8		0	0	0.004482	0	0
DHRS3	9249	broad.mit.edu	37	1	12639406	12639406	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:12639406G>A	uc001auc.3	-	2	841	c.374C>T	c.(373-375)gCc>gTc	p.A125V	DHRS3_uc001aub.3_Missense_Mutation_p.A40V|DHRS3_uc009vnm.3_Missense_Mutation_p.A125V	NM_004753	NP_004744	O75911	DHRS3_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 3 (DHRS3), mRNA.	125					retinol metabolic process|visual perception	integral to membrane	NADP-retinol dehydrogenase activity|electron carrier activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	ATGGACCACGGCGGCATTGTT	0.582000														10			45		0	0	0.014410	0	0
AZI1	22994	broad.mit.edu	37	17	79168728	79168728	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:79168728G>A	uc002jzp.1	-	16	2270	c.2070C>T	c.(2068-2070)gcC>gcT	p.A690A	AZI1_uc002jzm.1_Silent_p.A117A|AZI1_uc002jzn.1_Silent_p.A687A|AZI1_uc002jzo.1_Silent_p.A687A|AZI1_uc010wum.1_Silent_p.A690A|AZI1_uc002jzq.3_5'Flank	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	690					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)			TCTCCCGGCGGGCTTTCTCGG	0.572000														24			113		0	0	0.014410	0	0
WBSCR17	64409	broad.mit.edu	37	7	71175773	71175773	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:71175773C>T	uc003tvy.3	+	9	1528	c.1528C>T	c.(1528-1530)Ctg>Ttg	p.L510L	WBSCR17_uc003tvz.3_Silent_p.L209L	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	510	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.F509L(1)		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)				GGAAGGCTTCCTGCACTTGGG	0.627000														114			37		0	0	0.010771	0	0
IRX3	79191	broad.mit.edu	37	16	54319046	54319046	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:54319046G>A	uc002eht.1	-	1	1163	c.747C>T	c.(745-747)gaC>gaT	p.D249D		NM_024336	NP_077312	P78415	IRX3_HUMAN	Homo sapiens iroquois homeobox 3 (IRX3), mRNA.	249	Asp/Glu-rich (acidic).				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						cctcgtcctcgtcgtcgtcag	0.692000														12			4		0	0	0.009096	0	0
CA1	759	broad.mit.edu	37	8	86250633	86250633	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:86250633T>G	uc022axc.1	-	1	162	c.83A>C	c.(82-84)aAc>aCc	p.N28T	CA13_uc003ydf.1_Intron|CA1_uc003ydh.3_Missense_Mutation_p.N28T|CA1_uc022axd.1_Missense_Mutation_p.N28T|CA1_uc010mae.2_Missense_Mutation_p.N28T|CA1_uc003ydi.3_Missense_Mutation_p.N28T	NM_001164830	NP_001729	P00915	CAH1_HUMAN	Homo sapiens carbonic anhydrase I (CA1), transcript variant 5, mRNA.	28					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)	AGGGGACTGGTTATTTCCATT	0.413000														76			72		0	0	0.014410	0	0
MARCH11	441061	broad.mit.edu	37	5	16091132	16091132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:16091132C>T	uc003jfo.2	-	2	965	c.752G>A	c.(751-753)gGa>gAa	p.G251E	MARCH11_uc010itw.1_Missense_Mutation_p.G7E	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 11 (MARCH11), mRNA.	251						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						GAACAGGGATCCTAGGATTAC	0.443000														8			12		0	0	0.001855	0	0
FER	2241	broad.mit.edu	37	5	108516559	108516559	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:108516559G>A	uc003kop.1	+	17	2544	c.2160G>A	c.(2158-2160)aaG>aaA	p.K720K	FER_uc011cvg.1_Silent_p.K545K	NM_005246	NP_005237	P16591	FER_HUMAN	Homo sapiens fer (fps/fes related) tyrosine kinase (FER), mRNA.	720	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		CTGGCTTAAAGCAGATTCCCA	0.373000														7			31		0	0	0.010818	0	0
POM121L12	285877	broad.mit.edu	37	7	53104076	53104076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:53104076C>T	uc003tpz.3	+	0	728	c.712C>T	c.(712-714)Ccg>Tcg	p.P238S		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	238										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCCTCTGAAGCCGAGCCTCGG	0.657000														40			10		0	0	0.008291	0	0
RSAD1	55316	broad.mit.edu	37	17	48559767	48559767	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:48559767C>G	uc002iqw.1	+	3	846	c.790C>G	c.(790-792)Ctt>Gtt	p.L264V	RSAD1_uc010wmq.1_Non-coding_Transcript	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	Homo sapiens radical S-adenosyl methionine domain containing 1 (RSAD1), mRNA.	264					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCGGGCTGTCCTTCGGGAGGC	0.652000											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		6			27		0	0	0.007291	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136594218	136594218	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:136594218C>T	uc003yuv.3	+	5	1103	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W	KHDRBS3_uc003yuw.3_Missense_Mutation_p.R237W|KHDRBS3_uc010mek.3_Non-coding_Transcript	NM_006558	NP_006549	O75525	KHDR3_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 3 (KHDRBS3), mRNA.	237	Interaction with SIAH1.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			GCCAGTGAGTCGGGGAAGAGG	0.602000														36			36		0	0	0.003755	0	0
DGKI	9162	broad.mit.edu	37	7	137237207	137237207	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:137237207C>T	uc003vtt.3	-	19	2056	c.2055G>A	c.(2053-2055)agG>agA	p.R685R	DGKI_uc003vtu.3_Silent_p.R385R	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	685					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						CTGGGGCCAACCTACAGGGCT	0.512000														53			113		0	0	0.014410	0	0
FCGBP	8857	broad.mit.edu	37	19	40357497	40357497	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:40357497G>A	uc002omp.4	-	33	15824	c.15816C>T	c.(15814-15816)atC>atT	p.I5272I		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5272	VWFD 13.					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)			GGTACCAGGGGATGGTATTCT	0.582000														35			18		0	0	0.008871	0	0
LRRC14	9684	broad.mit.edu	37	8	145745204	145745204	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:145745204C>T	uc003zdk.2	+	1	269	c.95C>T	c.(94-96)cCc>cTc	p.P32L	RECQL4_uc003zdj.3_5'Flank|LRRC14_uc003zdl.2_Missense_Mutation_p.P32L	NM_014665	NP_055480	Q15048	LRC14_HUMAN	Homo sapiens leucine rich repeat containing 14 (LRRC14), mRNA.	32										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GAACTCTTCCCCCTGCTGTTC	0.607000														30			28		0	0	0.007291	0	0
CLDN1	9076	broad.mit.edu	37	3	190026224	190026224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:190026224C>T	uc003fsh.3	-	3	718	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K		NM_021101	NP_066924	O95832	CLD1_HUMAN	Homo sapiens claudin 1 (CLDN1), mRNA.	160					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		TGACCAAATTCGTACCTAAAA	0.398000														27			17		0	0	0.008871	0	0
HSPG2	3339	broad.mit.edu	37	1	22169278	22169278	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:22169278G>A	uc009vqd.3	-	66	8938	c.8898C>T	c.(8896-8898)ctC>ctT	p.L2966L	HSPG2_uc001bfj.3_Silent_p.L2965L	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2965	Ig-like C2-type 15.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.L2965P(1)		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)	GCCGGGCGGGGAGGCTGCCCC	0.617000														15			43		0	0	0.014410	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814722	106814722	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:106814722G>A	uc003ymd.3	+	7	2435	c.2412G>A	c.(2410-2412)acG>acA	p.T804T	ZFPM2_uc011lhs.2_Silent_p.T535T	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	804					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.T804T(2)		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)			CTTCTCTGACGATCAACAAGT	0.443000														6			6		0	0	0.001168	0	0
ZBTB49	166793	broad.mit.edu	37	4	4304110	4304110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:4304110C>T	uc003ghu.3	+	2	722	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C	ZBTB49_uc003ghv.3_5'UTR|ZBTB49_uc010icy.3_Non-coding_Transcript|ZBTB49_uc010icz.3_5'UTR	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	Homo sapiens zinc finger and BTB domain containing 49 (ZBTB49), mRNA.	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						ATCAGTTAATCGTCATCACTC	0.443000														39			9		0	0	0.006214	0	0
HKR1	284459	broad.mit.edu	37	19	37853243	37853243	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:37853243C>T	uc002ogb.3	+	5	815	c.546C>T	c.(544-546)ctC>ctT	p.L182L	HKR1_uc002ofx.3_5'UTR|HKR1_uc002ofy.3_5'UTR|HKR1_uc002oga.3_Silent_p.L164L|HKR1_uc010xto.2_Silent_p.L164L|HKR1_uc002ogc.3_Silent_p.L163L|HKR1_uc010xtp.2_Silent_p.L121L|HKR1_uc002ogd.3_Silent_p.L121L	NM_181786	NP_861451	P10072	HKR1_HUMAN	Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA.	182					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTCCAGACTCCTGTTTGGGA	0.478000														13			16		0	0	0.004007	0	0
MSR1	4481	broad.mit.edu	37	8	16026061	16026061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:16026061G>A	uc010lsu.3	-	3	654	c.590C>T	c.(589-591)tCc>tTc	p.S197F	MSR1_uc003wwz.3_Missense_Mutation_p.S179F|MSR1_uc003wxa.3_Missense_Mutation_p.S179F|MSR1_uc003wxb.3_Missense_Mutation_p.S179F|MSR1_uc011kxz.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	179					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)		ACTTATTAAGGACTTGGAGAT	0.368000														36			24		0	0	0.004656	0	0
OTUD7A	161725	broad.mit.edu	37	15	31851329	31851329	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:31851329G>A	uc001zfq.3	-	2	486	c.393C>T	c.(391-393)tcC>tcT	p.S131S	OTUD7A_uc001zfr.3_Silent_p.S131S|OTUD7A_uc001zfs.1_Non-coding_Transcript|OTUD7A_uc010baa.1_Silent_p.S131S	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	131						cytoplasm|nucleus	DNA binding|cysteine-type peptidase activity|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TTGCCACGTGGGACCGGGCCA	0.582000														18			20		0	0	0.003330	0	0
SETMAR	6419	broad.mit.edu	37	3	4355387	4355387	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:4355387C>T	uc011asp.2	+	1	1029	c.962C>T	c.(961-963)cCc>cTc	p.P321L	SUMF1_uc003bps.2_Intron|SETMAR_uc003bpw.4_Missense_Mutation_p.P308L|SETMAR_uc011asq.2_Missense_Mutation_p.P182L|SETMAR_uc003bpy.4_Missense_Mutation_p.P43L|SETMAR_uc011asr.2_Missense_Mutation_p.P65L|SETMAR_uc010hbx.3_Missense_Mutation_p.P116L	NM_006515	NP_006506	Q53H47	SETMR_HUMAN	Homo sapiens SET domain and mariner transposase fusion gene (SETMAR), transcript variant 1, mRNA.	308	Histone-lysine N-methyltransferase.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		GAGAAGGAACCCAGCATGTGT	0.502000								Chromatin Structure						35			35		0	0	0.004289	0	0
NEURL	9148	broad.mit.edu	37	10	105350068	105350068	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:105350068C>T	uc001kxh.3	+	5	2074	c.1664C>T	c.(1663-1665)gCc>gTc	p.A555V	SH3PXD2A_uc010qqr.2_Intron|NEURL_uc021pxn.1_Missense_Mutation_p.A538V	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	555					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GCTCTGCACGCCTGCTGCCCC	0.612000														11			15		0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9075414	9075414	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:9075414G>A	uc002mkp.3	-	2	12236	c.12032C>T	c.(12031-12033)tCc>tTc	p.S4011F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4013	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						AGTCAAGAAGGAATTAGGCTC	0.478000														35			26		0	0	0.003954	0	0
KIAA1109	84162	broad.mit.edu	37	4	123183929	123183929	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:123183929C>T	uc003ieh.3	+	40	6818	c.6773C>T	c.(6772-6774)cCa>cTa	p.P2258L	KIAA1109_uc003iel.1_Missense_Mutation_p.P193L|KIAA1109_uc003iek.2_Missense_Mutation_p.P877L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2258					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGCATTCACCCATATCATTCT	0.413000														14			38		0	0	0.008740	0	0
GPR157	80045	broad.mit.edu	37	1	9171506	9171506	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:9171506C>T	uc001apq.1	-	1	569	c.426G>A	c.(424-426)ctG>ctA	p.L142L	GPR157_uc010oad.1_Silent_p.L142L|GPR157_uc001apr.3_Silent_p.L142L	NM_024980	NP_079256	Q5UAW9	GP157_HUMAN	Homo sapiens G protein-coupled receptor 157 (GPR157), mRNA.	142						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A141T(1)		lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		CAATCTTCTTCAGGGCGACGG	0.622000											OREG0013073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		42			11		0	0	0.010729	0	0
CCDC33	80125	broad.mit.edu	37	15	74625049	74625049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:74625049C>T	uc002axo.3	+	15	2195	c.1801C>T	c.(1801-1803)Ccc>Tcc	p.P601S	CCDC33_uc002axp.3_Missense_Mutation_p.P423S|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Missense_Mutation_p.P194S|CCDC33_uc002axr.3_Missense_Mutation_p.P194S	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	804							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						CTCTGGCCTTCCCTTGGGTTC	0.577000														81			57		0	0	0.014410	0	0
NUMB	8650	broad.mit.edu	37	14	73753939	73753939	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr14:73753939C>T	uc001xny.1	-	8	854	c.534G>A	c.(532-534)gtG>gtA	p.V178V	NUMB_uc010aro.1_Silent_p.V178V|NUMB_uc010arp.1_Silent_p.V167V|NUMB_uc010arq.1_Silent_p.V178V|NUMB_uc010arr.1_Silent_p.V167V|NUMB_uc001xoa.1_Silent_p.V178V|NUMB_uc001xnz.1_Silent_p.V167V|NUMB_uc001xob.1_Silent_p.V167V|NUMB_uc001xod.1_Silent_p.V178V|NUMB_uc001xoc.1_Silent_p.V178V|NUMB_uc010ars.1_Silent_p.V167V|NUMB_uc001xof.1_Silent_p.V142V|NUMB_uc001xog.3_Silent_p.V167V|NUMB_uc001xoh.1_Silent_p.V167V|NUMB_uc010ttz.1_5'Flank	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	Homo sapiens numb homolog (Drosophila) (NUMB), transcript variant 1, mRNA.	178	PID.				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		AAGTAGCAGTCACTCCACATT	0.473000														5			27		0	0	0.003954	0	0
LRRTM3	347731	broad.mit.edu	37	10	68857449	68857449	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:68857449G>A	uc001jmz.1	+	2	2191	c.1641G>A	c.(1639-1641)acG>acA	p.T547T	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	547						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						CCTTTGAAACGAATGCACAGG	0.463000														37			27		0	0	0.003954	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170795	207170795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:207170795G>A	uc002vbp.2	+	4	1793	c.1543G>A	c.(1543-1545)Gaa>Aaa	p.E515K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	515							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						ATCTGTAACAGAAGTAAACCT	0.423000														23			31		0	0	0.009535	0	0
FAM83F	113828	broad.mit.edu	37	22	40415294	40415294	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:40415294C>A	uc003ayk.1	+	1	706	c.612C>A	c.(610-612)ttC>ttA	p.F204L		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	204										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TGAAGTATTTCCTGGAGATGT	0.522000														30			52		2.12129e-23	2.54896e-23	0.014410	1	0
PDXK	8566	broad.mit.edu	37	21	45168938	45168938	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr21:45168938C>T	uc002zdm.4	+	5	639	c.441C>T	c.(439-441)atC>atT	p.I147I	PDXK_uc002zdn.4_Silent_p.I119I	NM_003681	NP_003672	O00764	PDXK_HUMAN	Homo sapiens pyridoxal (pyridoxine, vitamin B6) kinase (PDXK), mRNA.	147					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	CAGACATTATCACGCCCAACC	0.468000														20			15		0	0	0.004007	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173659871	173659871	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:173659871G>A	uc002uhv.4	+	1	371	c.184G>A	c.(184-186)Gag>Aag	p.E62K	RAPGEF4_uc002uhu.2_Missense_Mutation_p.E62K|RAPGEF4_uc010fqn.3_Missense_Mutation_p.E45K	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	62					G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TGGTTATTATGAGAATCTGGA	0.328000														31			70		0	0	0.014410	0	0
PDCD6	10016	broad.mit.edu	37	5	271859	271859	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:271859C>T	uc003jat.1	+	0	124	c.24C>T	c.(22-24)ccC>ccT	p.P8P	PDCD6_uc010isw.1_Silent_p.P40P|PDCD6_uc003jas.3_Silent_p.P40P|PDCD6_uc003jau.1_Silent_p.P40P	NM_013232	NP_037364	O75340	PDCD6_HUMAN	Homo sapiens programmed cell death 6 (PDCD6), mRNA.	8					induction of apoptosis by extracellular signals|response to calcium ion	endoplasmic reticulum membrane|nuclear membrane	binding, bridging|calcium ion binding|calcium-dependent protein binding	p.A12_G15delAGPG(2)		breast(2)|endometrium(1)|large_intestine(4)|lung(1)	8			Epithelial(17;0.00193)|OV - Ovarian serous cystadenocarcinoma(19;0.00489)|all cancers(22;0.00511)|Lung(60;0.113)			CTTACCGCCCCGGCCCTGGGG	0.736000														11			19		0	0	0.012319	0	0
ZP1	22917	broad.mit.edu	37	11	60637865	60637865	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:60637865G>A	uc001nqd.3	+	3	763	c.743G>A	c.(742-744)aGa>aAa	p.R248K	ZP1_uc001nqe.3_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	248	P-type.				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						TGCATCGTGAGAAGAACTTCA	0.572000														17			16		0	0	0.004990	0	0
FGA	2243	broad.mit.edu	37	4	155508667	155508667	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:155508667C>T	uc003iod.1	-	3	565	c.507G>A	c.(505-507)ctG>ctA	p.L169L	FGA_uc003ioe.1_Silent_p.L169L|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	169					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)	TACTTACCTCCAGTCGTTTCA	0.428000														26			4		0	0	0.009096	0	0
MED12L	116931	broad.mit.edu	37	3	151073743	151073743	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:151073743C>T	uc003eyp.3	+	16	2601	c.2472C>T	c.(2470-2472)ctC>ctT	p.L824L	MED12L_uc011bnz.2_Silent_p.L684L|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_5'UTR	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	824					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTATCATCTCCCTTTGGCTC	0.393000														57			31		0	0	0.013726	0	0
ZNF574	64763	broad.mit.edu	37	19	42584278	42584278	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:42584278A>G	uc002osk.4	+	1	2025	c.1790A>G	c.(1789-1791)aAg>aGg	p.K597R	ZNF574_uc002osm.4_Missense_Mutation_p.K507R|ZNF574_uc021uva.1_Missense_Mutation_p.K507R	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	Homo sapiens zinc finger protein 574 (ZNF574), mRNA.	507					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)				TTCAAGAAGAAGTCTCACGTG	0.587000														123			123		0	0	0.014410	0	0
DMBT1	1755	broad.mit.edu	37	10	124380872	124380872	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:124380872G>A	uc001lgk.1	+	40	5303	c.5197G>A	c.(5197-5199)Gaa>Aaa	p.E1733K	DMBT1_uc001lgl.1_Missense_Mutation_p.E1723K|DMBT1_uc001lgm.1_Missense_Mutation_p.E1105K|DMBT1_uc021qaf.1_Missense_Mutation_p.E1733K|DMBT1_uc021qag.1_Missense_Mutation_p.E1723K|DMBT1_uc021qah.1_Missense_Mutation_p.E1105K|DMBT1_uc009xzz.1_Missense_Mutation_p.E1733K|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.E436K|DMBT1_uc009yac.1_Missense_Mutation_p.E47K	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1733	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	p.E1733K(1)|p.E1862K(1)		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)				TGGCCATCACGAAGACGCTGG	0.557000														27			26		0	0	0.004656	0	0
ELANE	1991	broad.mit.edu	37	19	855989	855989	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:855989G>A	uc002lqb.3	+	4	667	c.629G>A	c.(628-630)gGg>gAg	p.G210E		NM_001972	NP_001963	P08246	ELNE_HUMAN	Homo sapiens elastase, neutrophil expressed (ELANE), mRNA.	210	Peptidase S1.		G -> V (in GFI1).		cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of interleukin-8 biosynthetic process|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding	p.N209I(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GTCTGCAACGGGCTAATCCAC	0.662000														51			38		0	0	0.010771	0	0
PCLO	27445	broad.mit.edu	37	7	82785130	82785130	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:82785130C>T	uc003uhx.2	-	1	1116	c.827G>A	c.(826-828)cGa>cAa	p.R276Q	PCLO_uc003uhv.2_Missense_Mutation_p.R276Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	276	Gln-rich.|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						GGATGCATCTCGTTGAAGTGG	0.473000														31			61		0	0	0.014410	0	0
FUT3	2525	broad.mit.edu	37	19	5843890	5843890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:5843890G>A	uc002mdk.2	-	1	1058	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	FUT3_uc002mdm.2_Missense_Mutation_p.R321C|FUT3_uc002mdj.2_Missense_Mutation_p.R321C|FUT3_uc002mdl.2_Missense_Mutation_p.R321C|FUT3_uc021unn.1_Missense_Mutation_p.R321C	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	321					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TCCCGCCAGCGAAAGTAGCTC	0.637000														27			18		0	0	0.006320	0	0
FLG	2312	broad.mit.edu	37	1	152286482	152286482	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:152286482C>T	uc001ezu.1	-	2	916	c.880G>A	c.(880-882)Gga>Aga	p.G294R	AK056431_uc001ezv.3_Non-coding_Transcript	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	294	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R293K(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)			ACTCTGGATCCCCTACGCTTT	0.507000									Ichthyosis					177			49		0	0	0.014410	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101595951	101595951	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:101595951C>T	uc003knm.3	-	5	1381	c.1094G>A	c.(1093-1095)gGa>gAa	p.G365E		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	365					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AATACTTTTTCCAAATTTCAC	0.323000														1			7		0	0	0.006214	0	0
GNAZ	2781	broad.mit.edu	37	22	23438121	23438121	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:23438121C>T	uc002zwu.1	+	1	776	c.239C>T	c.(238-240)tCg>tTg	p.S80L	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	80						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	p.S80L(2)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GCCATCGACTCGCTGACCCGC	0.617000														271			41		0	0	0.014410	0	0
KLK8	11202	broad.mit.edu	37	19	51503857	51503857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:51503857G>A	uc002puq.1	-	2	374	c.188C>T	c.(187-189)cCt>cTt	p.P63L	KLK9_uc002puw.1_Intron|KLK8_uc002pur.1_Intron|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Intron|KLK8_uc002puv.1_Intron	NM_144505	NP_653088	O60259	KLK8_HUMAN	Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.	23	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)		AGGAGGGAGAGGGTTGGATCG	0.617000														34			44		0	0	0.010771	0	0
ZIC1	7545	broad.mit.edu	37	3	147128811	147128811	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:147128811C>T	uc003ewe.3	+	0	1631	c.912C>T	c.(910-912)tgC>tgT	p.C304C		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	304					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			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						CCTTTCCCTGCCCCTTCCCTG	0.577000														29			18		0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179485149	179485149	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:179485149C>T	uc021vsy.1	-	196	38620	c.38395G>A	c.(38395-38397)Gat>Aat	p.D12799N	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D6494N|TTN_uc021vta.1_Missense_Mutation_p.D6427N|TTN_uc021vtb.1_Missense_Mutation_p.D6302N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13726	Ig-like 85.						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)			TCACCTTCATCTGGGAAGCCA	0.423000														94			37		0	0	0.003755	0	0
NDN	4692	broad.mit.edu	37	15	23932237	23932237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:23932237C>T	uc001ywk.3	-	0	214	c.128G>A	c.(127-129)aGc>aAc	p.S43N		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	43					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			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)		TAGAGGAGGGCTCTGCGGCTC	0.731000									Prader-Willi syndrome					8			12		0	0	0.013537	0	0
LILRB4	11006	broad.mit.edu	37	19	55175309	55175310	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:55175309_55175310GG>AA	uc002qgp.3	+	2	530_531	c.168_169GG>AA	c.(166-171)cgggag>cgAAag	p.E57K	LILRB4_uc002qgo.1_Missense_Mutation_p.E98K|LILRB4_uc002qgq.3_Missense_Mutation_p.E57K|LILRB4_uc010ers.1_5'UTR|LILRB4_uc010ert.3_Missense_Mutation_p.E98K|LILRB4_uc010eru.3_Missense_Mutation_p.E86K	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.	57	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)		TGGAGGCTCGGGAGTACCGTCT	0.604000														43			44		0	0	0.004672	0	0
PPFIA2	8499	broad.mit.edu	37	12	81851624	81851624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:81851624C>T	uc001szo.2	-	4	486	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.E35K|PPFIA2_uc021rbh.1_Missense_Mutation_p.E35K|PPFIA2_uc021rbi.1_Missense_Mutation_p.E109K|PPFIA2_uc021rbj.1_Missense_Mutation_p.E109K|PPFIA2_uc021rbk.1_Missense_Mutation_p.E91K|PPFIA2_uc021rbl.1_Missense_Mutation_p.E109K|PPFIA2_uc010sue.2_Missense_Mutation_p.E9K	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	35										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GCATTTAATTCTTTTGTCAGT	0.294000														0			9		0	0	0.008291	0	0
ACSM5	54988	broad.mit.edu	37	16	20451735	20451735	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:20451735G>A	uc002dhe.3	+	13	1873	c.1726G>A	c.(1726-1728)Gag>Aag	p.E576K		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	576					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCGAAGTCAGGAGTGGGGGAA	0.488000														31			22		0	0	0.003330	0	0
CD163	9332	broad.mit.edu	37	12	7640104	7640104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:7640104C>T	uc001qsz.3	-	7	2029	c.1901G>A	c.(1900-1902)gGa>gAa	p.G634E	CD163_uc001qta.3_Missense_Mutation_p.G634E|CD163_uc009zfw.2_Missense_Mutation_p.G667E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	634	SRCR 6.				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						ACGTGCTCCTCCTGGGGTAGA	0.502000														82			53		0	0	0.014410	0	0
COL6A1	1291	broad.mit.edu	37	21	47421964	47421964	+	Silent	SNP	G	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr21:47421964G>T	uc002zhu.1	+	30	2148	c.2046G>T	c.(2044-2046)cgG>cgT	p.R682R	COL6A1_uc002zhv.1_Silent_p.R13R	NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	682	C-terminal globular domain.|VWFA 2.				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)	CCAGCATCCGGAACGTGCAGG	0.692000														10			8		0.00621372	0.00726152	0.006214	1	0
RGPD4	285190	broad.mit.edu	37	2	108476245	108476245	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:108476245A>G	uc010ywk.2	+	11	1784	c.1702A>G	c.(1702-1704)Aaa>Gaa	p.K568E	RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	568					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AGCCCAGGAAAAACATGGCCT	0.333000														26			59		0	0	0.014410	0	0
SLC16A4	9122	broad.mit.edu	37	1	110906415	110906415	+	Silent	SNP	G	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:110906415G>C	uc001dzo.2	-	8	1687	c.1437C>G	c.(1435-1437)gcC>gcG	p.A479A	SLC16A4_uc009wfs.2_Silent_p.A431A|SLC16A4_uc001dzp.2_Silent_p.A311A|SLC16A4_uc010ovy.2_Silent_p.A417A|SLC16A4_uc010ovz.2_Missense_Mutation_p.P376R|SLC16A4_uc001dzq.2_Silent_p.A249A	NM_004696	NP_004687	O15374	MOT5_HUMAN	Homo sapiens solute carrier family 16, member 4 (monocarboxylic acid transporter 5) (SLC16A4), transcript variant 1, mRNA.	479						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TCCATCTTTCGGCCAATGGTA	0.373000														34			5		0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179437457	179437457	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:179437457C>T	uc021vsy.1	-	274	65923	c.65698G>A	c.(65698-65700)Gaa>Aaa	p.E21900K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E15595K|TTN_uc021vta.1_Missense_Mutation_p.E15528K|TTN_uc021vtb.1_Missense_Mutation_p.E15403K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22827	Fibronectin type-III 59.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E15528K(1)|p.E15595K(1)|p.E15403K(1)|p.E21898K(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)			TCTAAAGATTCTCCATGGTCC	0.453000														72			16		0	0	0.004007	0	0
SMG1	23049	broad.mit.edu	37	16	18844299	18844299	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:18844299C>T	uc002dfm.3	-	50	9118	c.8755G>A	c.(8755-8757)Gaa>Aaa	p.E2919K	SMG1_uc010bwb.3_Missense_Mutation_p.E2779K|SMG1_uc010bwa.3_Missense_Mutation_p.E1650K	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	2919					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GTTTCTTCTTCCAGTCCCATA	0.493000														130			85		0	0	0.014410	0	0
TRIM31	11074	broad.mit.edu	37	6	30071943	30071943	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:30071943C>T	uc003npg.1	-	8	1069	c.959_splice	c.e8-1	p.W320_splice	TRIM31_uc003npi.3_Splice_Site	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	Homo sapiens tripartite motif containing 31 (TRIM31), mRNA.	320						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						GTAACAAGCCCCCTAAAAATT	0.403000														48			17		0	0	0.004007	0	0
SLC12A8	84561	broad.mit.edu	37	3	124826656	124826656	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:124826656G>A	uc003ehw.4	-	9	1531	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	SLC12A8_uc003ehv.4_Silent_p.F458F|SLC12A8_uc003eht.4_Silent_p.F259F|SLC12A8_uc010hry.3_Silent_p.F211F	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	458					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						TGTCCTTGGTGAATTCCAGTA	0.557000														42			40		0	0	0.006999	0	0
KIF26B	55083	broad.mit.edu	37	1	245849702	245849702	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:245849702C>T	uc001ibf.1	+	11	3857	c.3417C>T	c.(3415-3417)tcC>tcT	p.S1139S	KIF26B_uc001ibg.1_Silent_p.S757S|KIF26B_uc001ibh.1_Silent_p.S381S	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1139					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)			TGAAAAAATCCATGTCTGCTG	0.587000														25			44		0	0	0.014410	0	0
CFTR	1080	broad.mit.edu	37	7	117251635	117251635	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:117251635G>A	uc003vjd.3	+	20	3272	c.3140_splice	c.e20-1	p.G1047_splice	CFTR_uc011knq.2_Splice_Site_p.G453_splice	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1047	ABC transmembrane type-1 2.				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)	TATTTCACAGGCAGGAGTCCA	0.338000									Cystic Fibrosis					40			14		0	0	0.002450	0	0
OLFML3	56944	broad.mit.edu	37	1	114523630	114523630	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:114523630C>T	uc001eer.1	+	2	569	c.460C>T	c.(460-462)Cca>Tca	p.P154S	OLFML3_uc001ees.1_Missense_Mutation_p.P134S|OLFML3_uc001eet.1_Missense_Mutation_p.P10S	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN	Homo sapiens olfactomedin-like 3 (OLFML3), mRNA.	154	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		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)		ATTTGGTGGCCCAGCTGGTCT	0.473000														7			15		0	0	0.004007	0	0
DOCK4	9732	broad.mit.edu	37	7	111503501	111503501	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:111503501C>T	uc003vfy.3	-	22	2669	c.2400G>A	c.(2398-2400)gtG>gtA	p.V800V	DOCK4_uc003vfw.3_Silent_p.V241V|DOCK4_uc003vfx.3_Silent_p.V800V|DOCK4_uc003vga.1_Silent_p.V405V	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	800					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GGGAATCATCCACATGCAGGA	0.532000														21			36		0	0	0.008740	0	0
RGS5	8490	broad.mit.edu	37	1	163172599	163172599	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:163172599G>A	uc001gcn.3	-	0	365	c.27C>T	c.(25-27)ccC>ccT	p.P9P	RGS5_uc021pdu.1_Intron|RGS5_uc021pdt.1_Silent_p.P9P|RGS5_uc009wvb.3_5'UTR	NM_003617	NP_003608	O15539	RGS5_HUMAN	Homo sapiens regulator of G-protein signaling 5 (RGS5), transcript variant 1, mRNA.	9					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.P9P(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			GGCATGAGTGGGGCAAAGCTG	0.448000														23			11		0	0	0.010729	0	0
DOC2A	8448	broad.mit.edu	37	16	30018394	30018394	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:30018394G>A	uc002dvn.3	-	6	863	c.672C>T	c.(670-672)tcC>tcT	p.S224S	BOLA2_uc010bzb.1_Intron|DOC2A_uc010vef.2_Non-coding_Transcript|DOC2A_uc002dvo.3_Silent_p.S224S|DOC2A_uc002dvp.3_Silent_p.S224S|DOC2A_uc002dvq.3_Silent_p.S224S	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	Homo sapiens double C2-like domains, alpha (DOC2A), mRNA.	224	Interaction with UNC13D.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						CCGCTGACATGGAAGAGGGGG	0.677000														18			11		0	0	0.010729	0	0
FLCN	201163	broad.mit.edu	37	17	17118316	17118316	+	Silent	SNP	G	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:17118316G>C	uc002gra.4	-	12	2025	c.1521C>G	c.(1519-1521)ctC>ctG	p.L507L	PLD6_uc010cpn.3_Non-coding_Transcript	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	Homo sapiens folliculin (FLCN), transcript variant 1, mRNA.	507					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACTCCTCCTTGAGGCAGACGA	0.567000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome					31			13		0	0	0.006122	0	0
ZNF506	440515	broad.mit.edu	37	19	19905887	19905888	+	Missense_Mutation	DNP	GC	TT	TT			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:19905887_19905888GC>TT	uc010eci.2	-	3	956_957	c.808_809GC>AA	c.(808-810)gca>AAa	p.A270K	ZNF506_uc021urk.1_Non-coding_Transcript|ZNF506_uc002noh.3_Missense_Mutation_p.A238K	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	Homo sapiens zinc finger protein 506 (ZNF506), transcript variant 1, mRNA.	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						AAAAAGGGTTGCAGGGTGGTTA	0.376000														24			13		0	0	0.004672	0	0
DNAH9	1770	broad.mit.edu	37	17	11556195	11556195	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:11556195C>T	uc002gne.3	+	13	2539	c.2471C>T	c.(2470-2472)cCa>cTa	p.P824L	DNAH9_uc010coo.3_Missense_Mutation_p.P118L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	824	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)		TGGGTGACTCCAATATTTAAG	0.358000														3			31		0	0	0.003755	0	0
KIF5C	3800	broad.mit.edu	37	2	149806454	149806454	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:149806454G>A	uc010zbu.2	+	8	1211	c.816G>A	c.(814-816)ggG>ggA	p.G272G	KIF5C_uc002tws.1_Non-coding_Transcript	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	272	Kinesin-motor.|Microtubule-binding.				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)		TGGCAGAAGGGACAGTAAGTG	0.453000														3			15		0	0	0.007413	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161021208	161021208	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:161021208G>A	uc001fxl.3	-	9	1662	c.1316C>T	c.(1315-1317)tCc>tTc	p.S439F	ARHGAP30_uc001fxk.3_Missense_Mutation_p.S439F|ARHGAP30_uc001fxm.3_Missense_Mutation_p.S285F|ARHGAP30_uc009wtx.3_Missense_Mutation_p.S112F|ARHGAP30_uc001fxn.1_Missense_Mutation_p.S285F	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	439					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCTGGCCAAGGAAACGTTAGA	0.632000														19			29		0	0	0.009535	0	0
DPPA4	55211	broad.mit.edu	37	3	109050810	109050810	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:109050810G>A	uc003dxq.4	-	2	302	c.247C>T	c.(247-249)Cca>Tca	p.P83S	DPPA4_uc011bho.2_Missense_Mutation_p.P83S|DPPA4_uc011bhp.1_Missense_Mutation_p.P83S	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	83						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GAAGGTAATGGAGGGATTGGT	0.488000														53			40		0	0	0.007835	0	0
PRR12	57479	broad.mit.edu	37	19	50099086	50099086	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:50099086C>T	uc002poo.4	+	3	1494	c.1494C>T	c.(1492-1494)tcC>tcT	p.S498S		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	269	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AGAGCTACTCCCCGGACCAGC	0.711000														10			8		0	0	0.003080	0	0
SEC14L1	6397	broad.mit.edu	37	17	75190973	75190973	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:75190973C>T	uc010dhc.3	+	6	1009	c.689C>T	c.(688-690)cCc>cTc	p.P230L	SEC14L1_uc021udv.1_Missense_Mutation_p.P230L|SEC14L1_uc021udw.1_Missense_Mutation_p.P230L|SEC14L1_uc021udx.1_Missense_Mutation_p.P230L|SEC14L1_uc002jto.3_Missense_Mutation_p.P230L|SEC14L1_uc010wth.2_Missense_Mutation_p.P230L|SEC14L1_uc002jtm.3_Missense_Mutation_p.P230L|SEC14L1_uc010wti.2_Missense_Mutation_p.P196L	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	230					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						GCACCTGAGCCCGTGGTGGGC	0.632000														10			44		0	0	0.009718	0	0
B3GALT1	8708	broad.mit.edu	37	2	168725653	168725653	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:168725653C>T	uc021vsc.1	+	0	104	c.104C>T	c.(103-105)tCc>tTc	p.S35F	B3GALT1_uc002udz.1_Missense_Mutation_p.S35F	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA.	35					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						TACACTGGCTCCAAACCATTC	0.443000														83			22		0	0	0.014323	0	0
COL7A1	1294	broad.mit.edu	37	3	48619352	48619352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:48619352C>T	uc003ctz.2	-	46	4661	c.4660G>A	c.(4660-4662)Gga>Aga	p.G1554R	COL7A1_uc021wxp.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1554	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCTTTTCTCCTTTGGGTCCA	0.517000														22			113		0	0	0.014410	0	0
ELAVL2	1993	broad.mit.edu	37	9	23705041	23705041	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:23705041G>C	uc003zpu.3	-	3	637	c.362C>G	c.(361-363)tCt>tGt	p.S121C	ELAVL2_uc003zps.3_Missense_Mutation_p.S121C|ELAVL2_uc003zpt.3_Missense_Mutation_p.S121C|ELAVL2_uc003zpv.3_Missense_Mutation_p.S121C|ELAVL2_uc003zpw.3_Missense_Mutation_p.S121C	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.	121					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			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)		ATCTCTGATAGAAGCTGAACT	0.383000														2			22		0	0	0.004656	0	0
TCERG1L	256536	broad.mit.edu	37	10	133107541	133107541	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:133107541G>A	uc001lkp.3	-	1	450	c.364C>T	c.(364-366)Ccg>Tcg	p.P122S		NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA.	122								p.P81S(1)|p.P81*(1)		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)		CCTAGGGACGGAGAATGGCCA	0.527000														19			6		0	0	0.003080	0	0
OR52K1	390036	broad.mit.edu	37	11	4510401	4510401	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:4510401G>A	uc001lza.2	+	0	293	c.271G>A	c.(271-273)Gat>Aat	p.D91N		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTGGTTCAGGGATCAGGAGAT	0.498000														10			14		0	0	0.003163	0	0
CLEC4G	339390	broad.mit.edu	37	19	7796936	7796936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:7796936C>T	uc002mhp.4	-	0	122	c.53G>A	c.(52-54)gGa>gAa	p.G18E	CLEC4G_uc021uny.1_Intron	NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN	Homo sapiens C-type lectin domain family 4, member G (CLEC4G), transcript variant 1, mRNA.	18						integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						GCTCATACCTCCGGGGACCTC	0.627000														26			10		0	0	0.010729	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140769061	140769061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:140769061C>T	uc003lkc.2	+	0	1610	c.1610C>T	c.(1609-1611)tCg>tTg	p.S537L	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_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	541	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R537P(1)|p.R537Q(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)			GACCAGGGCTCGCCAGCGCTC	0.692000														3			28		0	0	0.005443	0	0
CSMD1	64478	broad.mit.edu	37	8	2813132	2813132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:2813132C>T	uc022aqr.1	-	63	10363	c.9973G>A	c.(9973-9975)Gga>Aga	p.G3325R	CSMD1_uc011kwj.2_Missense_Mutation_p.G2655R|CSMD1_uc010lrg.3_Missense_Mutation_p.G1217R	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3326	Sushi 28.					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)		GGCGACTTTCCTGTCCATTTC	0.483000														26			19		0	0	0.010504	0	0
TTLL1	25809	broad.mit.edu	37	22	43471559	43471559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:43471559C>T	uc003bdi.3	-	2	275	c.34G>A	c.(34-36)Gag>Aag	p.E12K	TTLL1_uc010gzh.3_Missense_Mutation_p.E12K|TTLL1_uc021wqt.1_5'UTR|TTLL1_uc003bdj.3_5'UTR	NM_012263	NP_036395	O95922	TTLL1_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 1 (TTLL1), transcript variant 1, mRNA.	12	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	p.I11I(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		ACTGACTTCTCGATATCAGTG	0.408000														71			140		0	0	0.014410	0	0
CDCA7	83879	broad.mit.edu	37	2	174224179	174224179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:174224179C>T	uc002uic.1	+	2	475	c.344C>T	c.(343-345)tCa>tTa	p.S115L	CDCA7_uc002uid.1_Intron|CDCA7_uc010zej.1_Missense_Mutation_p.S71L|CDCA7_uc010zek.1_Intron	NM_031942	NP_114148	Q9BWT1	CDCA7_HUMAN	Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA.	37					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			GACGATGAATCATTTTGCGGT	0.403000														12			36		0	0	0.005524	0	0
NPHS2	7827	broad.mit.edu	37	1	179523625	179523625	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:179523625C>T	uc001gmq.4	-	5	865	c.780G>A	c.(778-780)gtG>gtA	p.V260V	AXDND1_uc001gmo.3_Intron|AXDND1_uc009wxg.3_Intron|AXDND1_uc021pfj.1_Intron|AXDND1_uc009wxh.3_Intron|NPHS2_uc009wxi.3_Silent_p.V192V|AXDND1_uc001gmr.3_Intron	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA.	260					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						CTATTCTCTCCACTTTGATTC	0.378000														52			13		0	0	0.002450	0	0
NEB	4703	broad.mit.edu	37	2	152424920	152424920	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:152424920C>T	uc021vrb.1	-	82	12572	c.12543G>A	c.(12541-12543)cgG>cgA	p.R4181R	NEB_uc002txr.3_Silent_p.R647R|NEB_uc002txu.3_Silent_p.R5882R|NEB_uc021vrc.1_Silent_p.R5882R|NEB_uc010fnx.3_Silent_p.R4169R|NEB_uc021vrd.1_Silent_p.R4181R	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4181					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)		TCCAGTCTTTCCGGTATTTAA	0.443000														41			10		0	0	0.010729	0	0
HRNR	388697	broad.mit.edu	37	1	152187704	152187704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:152187704C>T	uc001ezt.1	-	2	6477	c.6401G>A	c.(6400-6402)gGa>gAa	p.G2134E		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2134					keratinization		calcium ion binding|protein binding	p.Y2133*(1)|p.Y2133Y(1)		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)			GCCGTGTTGTCCGTAGCCAGA	0.562000														534			30		0	0	0.006999	0	0
IGSF10	285313	broad.mit.edu	37	3	151166294	151166294	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:151166294G>A	uc011bod.2	-	3	1475	c.1475C>T	c.(1474-1476)aCc>aTc	p.T492I		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	492	Ig-like C2-type 1.				cell differentiation|multicellular organismal development|ossification	extracellular region				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)			CAGGCCAACGGTTCCACCTAC	0.488000														105			84		0	0	0.014410	0	0
BCCIP	56647	broad.mit.edu	37	10	127520114	127520114	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:127520114C>T	uc001ljd.4	+	4	560	c.537C>T	c.(535-537)ctC>ctT	p.L179L	BCCIP_uc021qar.1_Silent_p.L179L|BCCIP_uc001ljb.4_Silent_p.L179L|BCCIP_uc001ljc.4_Silent_p.L179L|BCCIP_uc010quj.2_Silent_p.L149L	NM_016567	NP_057651	Q9P287	BCCIP_HUMAN	Homo sapiens BRCA2 and CDKN1A interacting protein (BCCIP), transcript variant A, mRNA.	179	Interaction with CDKN1A.				DNA repair|cell cycle|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGGGCCTTCTCCTAAGTGAAA	0.428000														12			9		0	0	0.008291	0	0
RG9MTD1	54931	broad.mit.edu	37	3	101284124	101284124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:101284124G>A	uc003duz.3	+	1	647	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	RG9MTD1_uc021xbw.1_Missense_Mutation_p.E167K	NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 1 (RG9MTD1), nuclear gene encoding mitochondrial protein, mRNA.	167					tRNA processing	mitochondrion	methyltransferase activity|protein binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	16						CAAGCTGCTAGAAACCACTGA	0.373000														24			19		0	0	0.008871	0	0
KHK	3795	broad.mit.edu	37	2	27317426	27317426	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:27317426C>T	uc002ril.2	+	2	808	c.291C>T	c.(289-291)gcC>gcT	p.A97A	KHK_uc002rim.2_Intron|KHK_uc002rio.2_Intron	NM_000221	NP_000212	P50053	KHK_HUMAN	Homo sapiens ketohexokinase (fructokinase) (KHK), transcript variant a, mRNA.	97					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCCATCGCCACGGTCATCA	0.572000														59			17		0	0	0.007413	0	0
OR4A15	81328	broad.mit.edu	37	11	55136144	55136144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	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														27			48		0	0	0.011902	0	0
HMOX2	3163	broad.mit.edu	37	16	4559688	4559688	+	Silent	SNP	C	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:4559688C>A	uc002cwr.4	+	6	1189	c.882C>A	c.(880-882)ccC>ccA	p.P294P	HMOX2_uc010bts.3_Silent_p.P294P|HMOX2_uc002cwq.4_Silent_p.P294P|HMOX2_uc010btt.3_Silent_p.P294P|HMOX2_uc002cwt.3_Silent_p.P294P	NM_001127204	NP_002125	P30519	HMOX2_HUMAN	Homo sapiens heme oxygenase (decycling) 2 (HMOX2), transcript variant 1, mRNA.	294					cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	TGAGGAAGCCCAGCCTCCAGT	0.602000														30			18		1.56452e-12	1.86491e-12	0.007413	1	0
LMO7	4008	broad.mit.edu	37	13	76374938	76374938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:76374938C>T	uc021rkq.1	+	6	916	c.581C>T	c.(580-582)tCc>tTc	p.S194F	LMO7_uc010thv.2_Missense_Mutation_p.S246F|LMO7_uc001vjt.1_Missense_Mutation_p.S194F|LMO7_uc001vjv.3_5'UTR|LMO7_uc010thw.2_Missense_Mutation_p.S155F|LMO7_uc001vju.1_Non-coding_Transcript	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	246						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGAGAAGATTCCTTTGAAAGC	0.502000														117			41		0	0	0.007835	0	0
KRT9	3857	broad.mit.edu	37	17	39723922	39723922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:39723922C>T	uc002hxe.4	-	6	1541	c.1475G>A	c.(1474-1476)gGa>gAa	p.G492E	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	492	Tail.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				gcctccacttcctcccctgga	0.547000														0			8		0	0	0.003080	0	0
GPR115	221393	broad.mit.edu	37	6	47682499	47682499	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:47682499C>T	uc003oyz.1	+	6	1689	c.1689C>T	c.(1687-1689)ttC>ttT	p.F563F	GPR115_uc003oza.1_Silent_p.F506F|GPR115_uc003ozb.1_Silent_p.F506F|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	506					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TGGTCATTTTCCGTAGGATGA	0.433000														115			38		0	0	0.010771	0	0
CHAT	1103	broad.mit.edu	37	10	50854651	50854651	+	Silent	SNP	A	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:50854651A>C	uc001jhz.2	+	7	1365	c.1212A>C	c.(1210-1212)gcA>gcC	p.A404A	CHAT_uc001jhv.1_Silent_p.A286A|CHAT_uc001jhx.1_Silent_p.A286A|CHAT_uc001jhy.1_Silent_p.A286A|CHAT_uc001jia.2_Silent_p.A322A|CHAT_uc010qgs.1_Silent_p.A286A	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	404					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCCACAGGGCACTCCAGCTCC	0.632000														18			14		0	0	0.002450	0	0
LOC100101266	100101266	broad.mit.edu	37	19	24345803	24345803	+	RNA	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:24345803C>T	uc010edb.1	-	0		c.447G>A								Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA.																		GATGCTCGTTCAAACAGTAGT	0.438000														147			86		0	0	0.014410	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698470	96698470	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:96698470C>T	uc001kka.4	+	0	56	c.31C>T	c.(31-33)Ctc>Ttc	p.L11F	CYP2C9_uc009xut.3_Missense_Mutation_p.L11F|CYP2C9_uc001kjz.3_Missense_Mutation_p.L11F	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	11					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)	TGTGCTCTGTCTCTCATGTTT	0.473000														88			49		0	0	0.014410	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1706227	1706227	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:1706227C>T	uc010uvh.2	+	8	1469	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	CRAMP1L_uc002cmf.3_Intron	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA.	490						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GGAGAGAGTTCCCCCGAAAGC	0.711000														27			13		0	0	0.001855	0	0
abParts	0	broad.mit.edu	37	14	106733470	106733470	+	RNA	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr14:106733470G>A	uc021ser.1	-	875		c.21089C>T								Parts of antibodies, mostly variable regions.																		ACAGAGGAGTGGATGAGACAC	0.587000														69			43		0	0	0.008740	0	0
ROBO2	6092	broad.mit.edu	37	3	77671460	77671460	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:77671460G>A	uc011bgk.2	+	23	4292	c.3649G>A	c.(3649-3651)Gaa>Aaa	p.E1217K	ROBO2_uc021xat.1_Missense_Mutation_p.E1229K|ROBO2_uc003dpy.4_Missense_Mutation_p.E1213K|ROBO2_uc003dpz.3_Missense_Mutation_p.E1217K|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1213					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TTCTGATTTGGAAACGGATGT	0.478000														4			26		0	0	0.005443	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367390	105367390	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:105367390C>T	uc003ylx.1	+	2	1364	c.1315C>T	c.(1315-1317)Cgg>Tgg	p.R439W		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	439					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											AGTCAAAAGACGGCTGAGTCT	0.473000														33			18		0	0	0.006122	0	0
ATG4C	84938	broad.mit.edu	37	1	63299788	63299788	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:63299788G>A	uc001dat.3	+	8	1200	c.1012_splice	c.e8+1	p.D338_splice	ATG4C_uc001dau.3_Splice_Site_p.D338_splice	NM_178221	NP_835739	Q96DT6	ATG4C_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog C (S. cerevisiae) (ATG4C), transcript variant 2, mRNA.	338					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						GGATTTCAAGGTTAGTGATTT	0.308000														22			43		0	0	0.009718	0	0
KATNAL1	84056	broad.mit.edu	37	13	30815100	30815100	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:30815100G>A	uc001uss.3	-	4	717	c.616C>T	c.(616-618)Cat>Tat	p.H206Y	KATNAL1_uc001ust.3_Missense_Mutation_p.H206Y	NM_001014380	NP_115492	Q9BW62	KATL1_HUMAN	Homo sapiens katanin p60 subunit A-like 1 (KATNAL1), transcript variant 2, mRNA.	206						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	p.H206N(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		TCTAACCAATGAATGCTAGGA	0.363000														16			23		0	0	0.014323	0	0
CRB1	23418	broad.mit.edu	37	1	197407716	197407716	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:197407716G>A	uc001gtz.3	+	9	3998	c.3789G>A	c.(3787-3789)aaG>aaA	p.K1263K	CRB1_uc010poz.2_Silent_p.K1239K|CRB1_uc009wza.3_Silent_p.K1151K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.K727K|CRB1_uc010ppd.2_Silent_p.K744K|CRB1_uc001gub.1_Silent_p.K912K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1263	EGF-like 18.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			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						GGAATGAGAAGACAAATCTCA	0.428000														23			11		0	0	0.008291	0	0
METTL21B	25895	broad.mit.edu	37	12	58174204	58174204	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:58174204C>T	uc001sqg.3	+	2	581	c.456C>T	c.(454-456)atC>atT	p.I152I	TSFM_uc021qzq.1_5'Flank|METTL21B_uc001sqf.3_3'UTR|METTL21B_uc009zqd.3_Non-coding_Transcript|TSFM_uc001sqh.3_5'Flank|TSFM_uc001sqi.3_5'Flank|TSFM_uc010ssf.2_5'Flank|TSFM_uc010sse.2_5'Flank	NM_015433	NP_056248	Q96AZ1	MT21B_HUMAN	Homo sapiens methyltransferase like 21B (METTL21B), transcript variant 1, mRNA.	152						integral to membrane|intracellular	methyltransferase activity			endometrium(1)|lung(1)	2						GGGCTGATATCGTGTACCTGG	0.597000														4			40		0	0	0.014410	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681591	44681591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:44681591C>T	uc003bet.2	-	3	449	c.316G>A	c.(316-318)Gga>Aga	p.G106R		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	Homo sapiens KIAA1644 (KIAA1644), mRNA.	106						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				ACGAAAAATCCATAGATCCAC	0.527000														74			156		0	0	0.014410	0	0
ATP2C2	9914	broad.mit.edu	37	16	84456270	84456270	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:84456270C>T	uc010chj.3	+	8	899	c.810C>T	c.(808-810)ttC>ttT	p.F270F	ATP2C2_uc002fhx.3_Silent_p.F270F|ATP2C2_uc002fhy.3_Silent_p.F287F|ATP2C2_uc002fhz.3_Silent_p.F119F	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	270					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCTCTCAGTTCGGAGAAGTGT	0.502000														150			113		0	0	0.014410	0	0
CSMD1	64478	broad.mit.edu	37	8	3038658	3038658	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:3038658G>A	uc022aqr.1	-	36	6089	c.5699C>T	c.(5698-5700)gCt>gTt	p.A1900V	CSMD1_uc011kwj.2_Missense_Mutation_p.A1293V|CSMD1_uc003wqe.3_Missense_Mutation_p.A1057V|CSMD1_uc010lrg.3_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1901	CUB 11.					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)		GAAACCAGCAGCTGCCACACT	0.408000														17			18		0	0	0.012319	0	0
PDILT	204474	broad.mit.edu	37	16	20396091	20396091	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:20396091C>T	uc002dhc.1	-	2	508	c.285G>A	c.(283-285)ggG>ggA	p.G95G		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	95					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						CAAAGCCGATCCCATTCTTGC	0.498000														212			149		0	0	0.014410	0	0
SCN1A	6323	broad.mit.edu	37	2	166848693	166848693	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:166848693C>T	uc002udo.4	-	27	5319	c.5092G>A	c.(5092-5094)Gaa>Aaa	p.E1698K	SCN1A_uc010fpk.3_Missense_Mutation_p.E1670K|SCN1A_uc021vsb.1_Missense_Mutation_p.E1687K	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1698						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)	ATCCCAACTTCCCTCTTAACA	0.468000														115			27		0	0	0.005443	0	0
SLC16A14	151473	broad.mit.edu	37	2	230902211	230902211	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:230902211G>A	uc002vqd.2	-	4	1877	c.1418C>T	c.(1417-1419)tCc>tTc	p.S473F	FBXO36_uc010fxi.1_Intron	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	473						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TATGTAGAAGGAAAAATCATA	0.323000														24			5		0	0	0.001168	0	0
UNC13C	440279	broad.mit.edu	37	15	54556499	54556499	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:54556499G>A	uc021smr.1	+	6	3576	c.3576G>A	c.(3574-3576)caG>caA	p.Q1192Q	UNC13C_uc021sms.1_Silent_p.Q1194Q|UNC13C_uc002acl.3_Silent_p.Q24Q	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1194					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)		AAATGTTTCAGATTTCTAAAG	0.378000														14			3		0	0	0.009096	0	0
MGAM	8972	broad.mit.edu	37	7	141799452	141799452	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:141799452C>G	uc003vwy.3	+	43	5155	c.5101C>G	c.(5101-5103)Cca>Gca	p.P1701A		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1701	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)	GAAGACCTTGCCAGCCCCTCT	0.527000														73			20		0	0	0.002780	0	0
DPYS	1807	broad.mit.edu	37	8	105405178	105405178	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:105405178T>C	uc003yly.4	-	7	1406	c.1277A>G	c.(1276-1278)aAc>aGc	p.N426S	DPYS_uc010mcf.1_5'UTR	NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	426					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTCGAAAATGTTGAAGTTAAC	0.428000														62			41		0	0	0.014410	0	0
CD33	945	broad.mit.edu	37	19	51738907	51738907	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:51738907C>T	uc002pwa.2	+	5	940	c.900C>T	c.(898-900)caC>caT	p.H300H	CD33_uc010eos.1_Silent_p.H300H|CD33_uc010eot.1_Silent_p.H173H|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	300					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	ATGACACCCACCCTACCACAG	0.607000														8			8		0	0	0.006214	0	0
TCTN2	79867	broad.mit.edu	37	12	124172683	124172683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:124172683C>T	uc001ufp.3	+	6	978	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	TCTN2_uc009zya.3_Missense_Mutation_p.P283S	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	284					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		ACAAGGAGATCCCATTATGAC	0.353000														6			63		0	0	0.014410	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84685243	84685243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:84685243C>T	uc002bjz.4	+	24	4489	c.4265C>T	c.(4264-4266)cCg>cTg	p.P1422L	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.P1422L	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1422						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGAGAACCCCCGCCTCAAGGT	0.428000														7			11		0	0	0.013537	0	0
ABCA13	154664	broad.mit.edu	37	7	48559869	48559869	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:48559869G>T	uc003toq.2	+	52	14054	c.14030G>T	c.(14029-14031)tGg>tTg	p.W4677L	ABCA13_uc010kys.1_Missense_Mutation_p.W1752L|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.W407L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4677					transport	integral to membrane	ATP binding|ATPase activity	p.Q4677Q(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGCTACACTGGGACCTTCTG	0.512000														17			4		0.000602214	0.000706535	0.000602	1	0
MBL2	4153	broad.mit.edu	37	10	54528045	54528045	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:54528045C>T	uc001jjt.3	-	3	664	c.599G>A	c.(598-600)gGa>gAa	p.G200E		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	200	C-type lectin.				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						CAGTCTATTTCCTGTCAGATC	0.463000														86			56		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179442108	179442108	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:179442108C>T	uc021vsy.1	-	272	61475	c.61250G>A	c.(61249-61251)gGa>gAa	p.G20417E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G14112E|TTN_uc021vta.1_Missense_Mutation_p.G14045E|TTN_uc021vtb.1_Missense_Mutation_p.G13920E|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21344	Fibronectin type-III 48.						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)			AATGTCTTTTCCTGCCTTGGA	0.398000														49			8		0	0	0.004482	0	0
OR4S2	219431	broad.mit.edu	37	11	55418383	55418383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:55418383G>A	uc001nhs.1	+	0	4	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	2					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)				CCATTCCATGGAAAAAATAAA	0.328000														18			10		0	0	0.006214	0	0
SAT2	112483	broad.mit.edu	37	17	7530080	7530080	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:7530080C>T	uc002gic.2	-	4	577	c.336G>A	c.(334-336)aaG>aaA	p.K112K	SHBG_uc010cmu.2_Intron|SHBG_uc010cmo.2_Intron|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Intron|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Intron|SAT2_uc002gib.1_Non-coding_Transcript|SHBG_uc010cmz.2_5'Flank|SHBG_uc010cmv.2_5'Flank|SHBG_uc010cmw.2_5'Flank|SHBG_uc010cmx.2_5'Flank|SHBG_uc010cmy.2_5'Flank|SHBG_uc002gid.3_5'Flank	NM_133491	NP_597998	Q96F10	SAT2_HUMAN	Homo sapiens spermidine/spermine N1-acetyltransferase family member 2 (SAT2), mRNA.	112	N-acetyltransferase.					cytoplasm	diamine N-acetyltransferase activity	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	CCTCAGCCACCTTTTTGATTA	0.493000														9			31		0	0	0.003271	0	0
TNFSF9	8744	broad.mit.edu	37	19	6534954	6534954	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:6534954C>T	uc002mfh.2	+	2	680	c.642C>T	c.(640-642)gtC>gtT	p.V214V		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	214					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						GCCTGGGCGTCCATCTTCACA	0.682000														15			15		0	0	0.003163	0	0
KLK5	25818	broad.mit.edu	37	19	51453345	51453345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:51453345G>A	uc002pue.3	-	3	319	c.101C>T	c.(100-102)tCc>tTc	p.S34F	KLK5_uc002puf.3_Missense_Mutation_p.S34F|KLK5_uc002pug.3_Missense_Mutation_p.S34F	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	34				Missing (in Ref. 3; AAG33358).	epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GTGGTCACAGGAAACATCATT	0.632000														11			12		0	0	0.010729	0	0
RSPH9	221421	broad.mit.edu	37	6	43623367	43623367	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:43623367C>T	uc003ovx.2	+	2	486	c.417C>T	c.(415-417)atC>atT	p.I139I	RSPH9_uc003ovw.2_Silent_p.I154I	NM_001193341	NP_001180270	Q9H1X1	RSPH9_HUMAN	Homo sapiens radial spoke head 9 homolog (Chlamydomonas) (RSPH9), transcript variant 2, mRNA.	154					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGGCCATCATCCCCCGAGGCG	0.592000									Kartagener syndrome					48			101		0	0	0.014410	0	0
PYGB	5834	broad.mit.edu	37	20	25252026	25252026	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:25252026C>T	uc002wup.3	+	3	541	c.432C>T	c.(430-432)ttC>ttT	p.F144F		NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	144					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	CAGCGTGTTTCCTTGACTCAA	0.502000														76			78		0	0	0.014410	0	0
SP140	11262	broad.mit.edu	37	2	231112687	231112687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:231112687G>A	uc002vql.3	+	7	914	c.799G>A	c.(799-801)Gag>Aag	p.E267K	SP140_uc010zma.1_Intron|SP140_uc002vqk.2_Missense_Mutation_p.E267K|SP140_uc002vqn.3_Intron|SP140_uc002vqm.3_Missense_Mutation_p.E241K|SP140_uc010fxl.3_Missense_Mutation_p.E267K	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	267					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)		AGCACCAGGGGAGAAACAGGG	0.473000														25			41		0	0	0.006999	0	0
CCKBR	887	broad.mit.edu	37	11	6292273	6292273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:6292273G>A	uc001mcp.3	+	4	1099	c.844G>A	c.(844-846)Gag>Aag	p.E282K	CCKBR_uc001mcq.3_Missense_Mutation_p.E210K|CCKBR_uc001mcr.3_Missense_Mutation_p.E282K|CCKBR_uc001mcs.3_Missense_Mutation_p.E351K|CCKBR_uc001mct.1_Non-coding_Transcript	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	282					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)	TTGCCGGCCTGAGACTGGCGC	0.672000														58			12		0	0	0.002450	0	0
APOL2	23780	broad.mit.edu	37	22	36627472	36627472	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:36627472C>T	uc011amm.2	-	4	430	c.387G>A	c.(385-387)caG>caA	p.Q129Q	APOL2_uc003aoz.3_Silent_p.Q17Q|APOL2_uc003apa.3_Silent_p.Q17Q	NM_145637	NP_663612	Q9BQE5	APOL2_HUMAN	Homo sapiens apolipoprotein L, 2 (APOL2), transcript variant beta, mRNA.	17					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding	p.G128D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						TCACTTGGTCCTGGAAATACT	0.463000														26			45		0	0	0.014410	0	0
AIM1L	55057	broad.mit.edu	37	1	26671766	26671766	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:26671766C>T	uc001bmd.4	-	1	1533	c.1383G>A	c.(1381-1383)agG>agA	p.R461R		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0	Beta/gamma crystallin 'Greek key' 10.						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)		TCACGACCTCCCTCTGGGTAA	0.602000														10			46		0	0	0.014410	0	0
THSD7B	80731	broad.mit.edu	37	2	137917850	137917850	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:137917850C>T	uc002tva.1	+	4	1344	c.1344C>T	c.(1342-1344)atC>atT	p.I448I	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.I338I	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)		TCTGCAATATCCCTTGCTCTA	0.517000														32			8		0	0	0.003080	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596309	24596309	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:24596309G>A	uc011djo.2	-	2	1093	c.593C>T	c.(592-594)tCt>tTt	p.S198F	KIAA0319_uc011djp.2_Missense_Mutation_p.S153F|KIAA0319_uc003neh.1_Missense_Mutation_p.S198F|KIAA0319_uc011djq.1_Missense_Mutation_p.S189F|KIAA0319_uc011djr.1_Missense_Mutation_p.S198F	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	198					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GTCTCCAACAGAGGAGTTGAA	0.627000														26			6		0	0	0.001168	0	0
HRC	3270	broad.mit.edu	37	19	49657222	49657222	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:49657222C>T	uc002pmv.3	-	0	1460	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	425					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)		TCATCTTCCTCCCTGGGGACT	0.547000														52			55		0	0	0.014410	0	0
SCN11A	11280	broad.mit.edu	37	3	38946682	38946682	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:38946682C>T	uc021wvy.1	-	11	1802	c.1603_splice	c.e11+1	p.E535_splice		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	535					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)	GTGGAACTTACCCTTCATGGT	0.493000														8			53		0	0	0.014410	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72505062	72505062	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr10:72505062G>A	uc001jrg.3	+	15	2272	c.2272_splice	c.e15+1	p.V758_splice	ADAMTS14_uc001jrh.3_Splice_Site_p.V755_splice|ADAMTS14_uc001jri.1_Missense_Mutation_p.G278S	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	755	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						CCACCGCATTGGTGAGTGCTG	0.622000														13			7		0	0	0.001984	0	0
PCLO	27445	broad.mit.edu	37	7	82582544	82582544	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:82582544G>A	uc003uhx.2	-	4	8014	c.7725C>T	c.(7723-7725)tcC>tcT	p.S2575S	PCLO_uc003uhv.2_Silent_p.S2575S|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2506					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						TTTCTGTGAGGGATTTGGAAA	0.433000														87			157		0	0	0.014410	0	0
RASGRP4	115727	broad.mit.edu	37	19	38916724	38916724	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:38916724C>T	uc021uub.1	-	0	222	c.8G>A	c.(7-9)aGa>aAa	p.R3K	RASGRP4_uc021utz.1_Missense_Mutation_p.R3K|RASGRP4_uc021uua.1_Missense_Mutation_p.R3K|RASGRP4_uc021uuc.1_Missense_Mutation_p.R3K|RASGRP4_uc021uud.1_Missense_Mutation_p.R3K|RASGRP4_uc021uue.1_Missense_Mutation_p.R3K|RASGRP4_uc021uuf.1_Missense_Mutation_p.R3K	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA.	3					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	GTP-dependent protein binding|Ras guanyl-nucleotide exchange factor activity|diacylglycerol binding|metal ion binding	p.R3I(2)		cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACTGTCTTTTCTGTTCATGCT	0.652000														10			6		0	0	0.003080	0	0
DNAH7	56171	broad.mit.edu	37	2	196737056	196737056	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:196737056G>A	uc002utj.4	-	39	6652	c.6551C>T	c.(6550-6552)tCc>tTc	p.S2184F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2184	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.F2183F(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						AATGACACGGGAGAAATCACG	0.388000														54			17		0	0	0.004990	0	0
CCNB3	85417	broad.mit.edu	37	X	50053047	50053047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chrX:50053047G>A	uc004dox.4	+	5	2176	c.1878G>A	c.(1876-1878)atG>atA	p.M626I	CCNB3_uc004doy.3_Missense_Mutation_p.M626I|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	626					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CCTTTAAGATGAAATCTACAA	0.448000														0			7		0	0	0.001984	0	0
GGT7	2686	broad.mit.edu	37	20	33440319	33440320	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:33440319_33440320GG>AA	uc002xay.3	-	10	1384_1385	c.1341_1342CC>TT	c.(1339-1344)ctccgg>ctTTgg	p.R448W	GGT7_uc010gex.3_5'Flank|GGT7_uc002xaz.1_Missense_Mutation_p.R465W	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA.	448					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						ATATGGCCCCGGAGGTAGGCGG	0.579000														47			30		0	0	0.004672	0	0
KIAA1467	57613	broad.mit.edu	37	12	13220139	13220139	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:13220139C>T	uc001rbi.3	+	6	1074	c.1051C>T	c.(1051-1053)Cga>Tga	p.R351*	KIAA1467_uc021qvn.1_Intron	NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	351						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GGCCCAAAATCGAGACAGCTC	0.458000														49			42		0	0	0.008740	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952981	119952981	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:119952981G>A	uc010inb.3	+	3	3247	c.3051G>A	c.(3049-3051)acG>acA	p.T1017T	SYNPO2_uc010ina.3_Silent_p.T1017T|SYNPO2_uc003icm.4_Silent_p.T1017T|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Silent_p.T945T|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	1017						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						CCTCACCTACGAATGTGCAGG	0.567000														5			23		0	0	0.003330	0	0
CALML4	91860	broad.mit.edu	37	15	68489856	68489856	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:68489856C>T	uc002arb.3	-	3	1149	c.415G>A	c.(415-417)Gag>Aag	p.E139K	CALML4_uc002arc.3_Missense_Mutation_p.E92K|CALML4_uc002ard.3_Non-coding_Transcript|CALML4_uc002are.3_Non-coding_Transcript|CALML4_uc010bhz.3_Intron	NM_033429	NP_219501	Q96GE6	CALL4_HUMAN	Homo sapiens calmodulin-like 4 (CALML4), transcript variant 1, mRNA.	139	EF-hand 3.						calcium ion binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						CCTTTCTTCTCCTTGTCCACC	0.478000														67			49		0	0	0.014410	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28337649	28337649	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr21:28337649G>A	uc002ymg.3	-	0	1791	c.1062C>T	c.(1060-1062)gaC>gaT	p.D354D		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	354	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCTCCTCATGGTCATCTCCCA	0.562000														63			19		0	0	0.007413	0	0
SIAH3	283514	broad.mit.edu	37	13	46357938	46357938	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:46357938G>A	uc001vap.3	-	1	472	c.390C>T	c.(388-390)atC>atT	p.I130I		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	Homo sapiens seven in absentia homolog 3 (Drosophila) (SIAH3), mRNA.	130					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CAACCCTATGGATCTGCCGCA	0.642000														35			39		0	0	0.008740	0	0
IKZF2	22807	broad.mit.edu	37	2	213872378	213872378	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:213872378C>A	uc002vem.3	-	7	1456	c.1287G>T	c.(1285-1287)aaG>aaT	p.K429N	IKZF2_uc010fuu.3_Missense_Mutation_p.K284N|IKZF2_uc002vej.3_Missense_Mutation_p.K376N|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.K355N|IKZF2_uc002vel.3_Missense_Mutation_p.K350N|IKZF2_uc010fuw.3_Missense_Mutation_p.K203N|IKZF2_uc010fux.3_Missense_Mutation_p.K203N|IKZF2_uc010fuy.3_Missense_Mutation_p.K357N|IKZF2_uc002ven.3_Missense_Mutation_p.K403N|IKZF2_uc002vei.3_Missense_Mutation_p.K207N	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	429					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)		TTTGTTTCCTCTTGGGATTTA	0.502000														58			126		2.47456e-63	2.98954e-63	0.014410	1	0
FMO2	2327	broad.mit.edu	37	1	171165931	171165931	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:171165931C>T	uc001ghk.1	+	3	582	c.465C>T	c.(463-465)atC>atT	p.I155I	FMO2_uc010pmd.1_5'UTR	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	155					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TACCTCATATCCCACTGAAGT	0.488000														65			10		0	0	0.006214	0	0
TRA@	6955	broad.mit.edu	37	14	22111199	22111199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr14:22111199G>A	uc001wbk.3	+	0	91	c.58G>A	c.(58-60)Gga>Aga	p.G20R						Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 114.																		GCAGATGTGGGGAGTTTTCCT	0.463000			T	"""ATL,OLIG2, MYC, TCL1A, TCL6, MTCP1, TCL6"""	T-ALL									2			22		0	0	0.004656	0	0
CBFA2T3	863	broad.mit.edu	37	16	88958775	88958775	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:88958775G>A	uc002fmm.2	-	3	787	c.498C>T	c.(496-498)ccC>ccT	p.P166P	CBFA2T3_uc002fml.2_Silent_p.P80P|CBFA2T3_uc010cif.1_Silent_p.P105P|CBFA2T3_uc002fmn.2_Silent_p.P141P	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	166	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CGCAGGCTGGGGGCAGGTGCT	0.642000			T	RUNX1	AML									19			12		0	0	0.002450	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43663577	43663577	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:43663577C>T	uc001zro.3	+	0	265	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	ZSCAN29_uc001zrj.1_5'Flank|ZSCAN29_uc010bdg.1_5'Flank|ZSCAN29_uc001zrk.1_5'Flank|ZSCAN29_uc010bdf.1_5'Flank|ZSCAN29_uc001zrl.1_5'Flank|ZSCAN29_uc001zrm.3_5'Flank|TUBGCP4_uc001zrn.3_Silent_p.L9L	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	Homo sapiens tubulin, gamma complex associated protein 4 (TUBGCP4), mRNA.	9					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	p.A8D(2)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GCTCTTGGCTCTGAGCGGGTA	0.657000											OREG0023087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			25		0	0	0.006320	0	0
SCN10A	6336	broad.mit.edu	37	3	38768109	38768109	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:38768109G>A	uc003ciq.3	-	15	3075	c.3075C>T	c.(3073-3075)atC>atT	p.I1025I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1025					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTCCTTTGGGGATCACTTCCT	0.542000														4			22		0	0	0.003954	0	0
DNAH5	1767	broad.mit.edu	37	5	13841216	13841216	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:13841216C>T	uc003jfd.2	-	33	5550	c.5508G>A	c.(5506-5508)atG>atA	p.M1836I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1836	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)					GTGTCCATATCATCTGAATTC	0.323000									Kartagener syndrome					27			24		0	0	0.002780	0	0
RYR2	6262	broad.mit.edu	37	1	237957208	237957208	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:237957208G>A	uc001hyl.1	+	94	13944	c.13824G>A	c.(13822-13824)cgG>cgA	p.R4608R	RYR2_uc010pyb.1_Silent_p.R41R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4608					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)			AAGTGGCACGGAAATTGGAAT	0.353000														16			4		0	0	0.000602	0	0
DSC1	1823	broad.mit.edu	37	18	28737400	28737400	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr18:28737400G>A	uc002kwn.3	-	2	547	c.285C>T	c.(283-285)ttC>ttT	p.F95F	DSC1_uc002kwm.3_Silent_p.F95F	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	95					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)			CATCTGAAAGGAAAATGGAAA	0.423000														23			7		0	0	0.001984	0	0
ZFAT	57623	broad.mit.edu	37	8	135614509	135614509	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:135614509G>A	uc003yup.3	-	5	1639	c.1453C>T	c.(1453-1455)Cag>Tag	p.Q485*	ZFAT_uc003yun.3_Nonsense_Mutation_p.Q473*|ZFAT_uc003yuo.3_Nonsense_Mutation_p.Q473*|ZFAT_uc010meh.3_Nonsense_Mutation_p.Q473*|ZFAT_uc010mej.3_Nonsense_Mutation_p.Q423*|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Nonsense_Mutation_p.Q473*|ZFAT_uc003yur.3_Nonsense_Mutation_p.Q473*	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AAGGCCTCCTGGGCAGCCCCG	0.602000														17			16		0	0	0.004007	0	0
JPH2	57158	broad.mit.edu	37	20	42747261	42747261	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr20:42747261G>C	uc002xli.1	-	2	2045	c.1172C>G	c.(1171-1173)aCa>aGa	p.T391R		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	391	Ala-rich.				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)			GGCGTGGCTTGTCCTATGGAG	0.582000														56			64		0	0	0.014410	0	0
CCDC74B	91409	broad.mit.edu	37	2	130897652	130897652	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:130897652G>A	uc010yzw.1	-	4	1944	c.1200C>T	c.(1198-1200)tcC>tcT	p.S400S	CCDC74B_uc002tqm.1_Silent_p.S298S|CCDC74B_uc002tqn.1_Silent_p.S232S			Q96LY2	CC74B_HUMAN	Homo sapiens coiled-coil domain containing 74B (CCDC74B), mRNA.	298										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					CTTCCAGGAGGGACTTGAGGT	0.701000														13			3		0	0	0.009096	0	0
ZG16B	124220	broad.mit.edu	37	16	2881920	2881920	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:2881920C>T	uc002cru.3	+	3	463	c.387C>T	c.(385-387)ttC>ttT	p.F129F		NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN	Homo sapiens zymogen granule protein 16 homolog B (rat) (ZG16B), mRNA.	129						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TCCAAGCTTTCCTCCGGGGTA	0.547000														39			37		0	0	0.007835	0	0
PTPN9	5780	broad.mit.edu	37	15	75761201	75761201	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr15:75761201T>C	uc002bal.3	-	12	2199	c.1691A>G	c.(1690-1692)tAc>tGc	p.Y564C		NM_002833	NP_002824	P43378	PTN9_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA.	564	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCAAAAATAGTACTGCTCAGG	0.562000														35			42		0	0	0.008740	0	0
SEMA5B	54437	broad.mit.edu	37	3	122667438	122667438	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:122667438G>A	uc003efz.1	-	2	547	c.243C>T	c.(241-243)ctC>ctT	p.L81L	SEMA5B_uc011bju.1_Silent_p.L23L|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.L81L|SEMA5B_uc010hro.1_Silent_p.L23L|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.	81					cell differentiation|nervous system development	integral to membrane	receptor activity			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)		GGGAGCTGGAGAGGTGGGACA	0.627000														23			13		0	0	0.001855	0	0
ZAN	7455	broad.mit.edu	37	7	100352897	100352897	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:100352897C>T	uc003uwj.3	+	14	3338	c.3173C>T	c.(3172-3174)tCg>tTg	p.S1058L	ZAN_uc003uwk.3_Missense_Mutation_p.S1058L|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.	1058	TIL 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				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)			TGTCCTGCTTCGTGCAAGAGC	0.567000														107			182		0	0	0.014410	0	0
FPR2	2358	broad.mit.edu	37	19	52272677	52272677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:52272677C>T	uc002pxr.3	+	1	811	c.766C>T	c.(766-768)Ccc>Tcc	p.P256S	FPR2_uc002pxs.4_Missense_Mutation_p.P256S|FPR2_uc010epf.3_Missense_Mutation_p.P256S|FPR2_uc021uyp.1_Missense_Mutation_p.P256S	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	256					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.P256S(2)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTGTTGGTTTCCCTTTCAACT	0.488000														24			22		0	0	0.012319	0	0
ZIC1	7545	broad.mit.edu	37	3	147131271	147131271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:147131271C>T	uc003ewe.3	+	2	1996	c.1277C>T	c.(1276-1278)tCc>tTc	p.S426F		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	426	Ser-rich.				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			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						TCGCCCTCCTCCTCCGCAGTC	0.547000														48			21		0	0	0.002780	0	0
CDH17	1015	broad.mit.edu	37	8	95178082	95178082	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:95178082G>A	uc003ygh.2	-	9	1314	c.1189C>T	c.(1189-1191)Caa>Taa	p.Q397*	CDH17_uc011lgo.1_Nonsense_Mutation_p.Q183*|CDH17_uc011lgp.1_Nonsense_Mutation_p.Q397*	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	397	Cadherin 4.					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)			GCATAGGTTTGGATTAGGAAG	0.413000														31			27		0	0	0.004656	0	0
NEDD4L	23327	broad.mit.edu	37	18	56008928	56008928	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr18:56008928T>C	uc002lgy.3	+	14	1559	c.1276T>C	c.(1276-1278)Tcc>Ccc	p.S426P	NEDD4L_uc002lgz.3_Missense_Mutation_p.S362P|NEDD4L_uc002lgx.3_Missense_Mutation_p.S406P|NEDD4L_uc010xee.1_Missense_Mutation_p.S305P|NEDD4L_uc002lhc.2_Missense_Mutation_p.S418P|NEDD4L_uc002lhd.2_Missense_Mutation_p.S305P|NEDD4L_uc002lhb.2_Missense_Mutation_p.S285P|NEDD4L_uc002lhe.2_Missense_Mutation_p.S398P|NEDD4L_uc002lhf.3_Missense_Mutation_p.S285P|NEDD4L_uc002lhg.3_Missense_Mutation_p.S305P|NEDD4L_uc002lhh.2_Intron|NEDD4L_uc010dpm.1_Intron	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	426					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AGATGGTGCGTCCGGATCAGC	0.517000														4			9		0	0	0.004482	0	0
OR2T6	254879	broad.mit.edu	37	1	248550993	248550993	+	Silent	SNP	C	T	T	rs61736237	byFrequency	TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:248550993C>T	uc001iei.1	+	0	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F27L(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)			GATTCTTTTTCGGTGTCATTT	0.438000														23			26		0	0	0.006320	0	0
KCNU1	157855	broad.mit.edu	37	8	36780057	36780057	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:36780057G>A	uc010lvw.3	+	23	2733	c.2646G>A	c.(2644-2646)ggG>ggA	p.G882G	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	882						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GACTGGAAGGGTCCCTCCAAG	0.453000														39			38		0	0	0.005524	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812836	31812836	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr21:31812836C>T	uc002yod.3	+	0	191	c.191C>T	c.(190-192)tCc>tTc	p.S64F		NM_181623	NP_853654	Q3LI76	KR151_HUMAN	Homo sapiens keratin associated protein 15-1 (KRTAP15-1), mRNA.	64						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TGCCAGACATCCTGCACTTTG	0.512000														58			28		0	0	0.004656	0	0
AGTR2	186	broad.mit.edu	37	X	115304558	115304558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chrX:115304558G>A	uc022cdd.1	+	0	1025	c.1025G>A	c.(1024-1026)gGg>gAg	p.G342E	AGTR2_uc004eqh.4_Missense_Mutation_p.G342E	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	342					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TGGCTCCAAGGGAAAAGAGAG	0.438000														4			56		0	0	0.014410	0	0
PRSS16	10279	broad.mit.edu	37	6	27216986	27216986	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:27216986C>T	uc003nja.3	+	3	460	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	PRSS16_uc011dkt.2_Intron|PRSS16_uc003njb.3_Intron|PRSS16_uc003njc.1_Non-coding_Transcript|PRSS16_uc010jqq.1_Missense_Mutation_p.R39C|PRSS16_uc010jqr.1_Missense_Mutation_p.R39C|PRSS16_uc003njd.3_5'Flank	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	149					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGCCCAGCTCCGCTTCTTGTC	0.562000														24			46		0	0	0.014410	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572253	140572253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:140572253C>T	uc003lix.3	+	0	302	c.128C>T	c.(127-129)tCc>tTc	p.S43F		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	43	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.S43Y(2)|p.S43S(1)		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)			GAGAAAGGATCCTTTGTGGTC	0.493000														3			29		0	0	0.004289	0	0
DSCAM	1826	broad.mit.edu	37	21	41505877	41505877	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr21:41505877C>T	uc002yyq.1	-	18	3918	c.3466G>A	c.(3466-3468)Gaa>Aaa	p.E1156K	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.	1156	Fibronectin type-III 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)				GTGTACTTTTCCAGCCCGTCC	0.537000														17			25		0	0	0.003954	0	0
DEF6	50619	broad.mit.edu	37	6	35289056	35289056	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:35289056G>A	uc003okk.3	+	10	1804	c.1765G>A	c.(1765-1767)Gga>Aga	p.G589R	DEF6_uc010jvs.3_Missense_Mutation_p.G564R|DEF6_uc010jvt.3_Missense_Mutation_p.G334R	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.	589						cytoplasm|nucleus|plasma membrane		p.G589E(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GACCCGCTGGGGATCCCAGGG	0.642000														40			68		0	0	0.014410	0	0
ZNF746	155061	broad.mit.edu	37	7	149172261	149172261	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:149172261G>A	uc010lpi.2	-	6	1423	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	ZNF746_uc003wfw.2_Silent_p.F383F	NM_001163474	NP_001156946	Q6NUN9	ZN746_HUMAN	Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA.	383					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GTTTACACCGGAAATTCCAGC	0.672000														34			13		0	0	0.013537	0	0
TRIM15	89870	broad.mit.edu	37	6	30135034	30135034	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:30135034C>T	uc010jrx.3	+	1	942	c.463C>T	c.(463-465)Ctt>Ttt	p.L155F		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	155					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						AGACCAGAAGCTTCAAGTGCT	0.502000														23			43		0	0	0.011902	0	0
FBXO24	26261	broad.mit.edu	37	7	100198319	100198319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:100198319G>A	uc011kjz.1	+	9	1722	c.1654G>A	c.(1654-1656)Ggg>Agg	p.G552R	FBXO24_uc003uvm.1_Missense_Mutation_p.G514R|FBXO24_uc003uvn.1_Missense_Mutation_p.G152R|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Missense_Mutation_p.G502R|LOC100129845_uc022air.1_Intron|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.3_5'Flank	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	514						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)					GGACCCCGGGGGGATGGCCCA	0.662000														20			60		0	0	0.014410	0	0
CSMD2	114784	broad.mit.edu	37	1	34312591	34312591	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:34312591G>A	uc001bxm.1	-	5	1104	c.927C>T	c.(925-927)acC>acT	p.T309T	CSMD2_uc001bxn.1_Silent_p.T269T	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	269						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)				GGCTGGCTCCGGTGAACCTGT	0.582000														35			7		0	0	0.001984	0	0
CEACAM20	125931	broad.mit.edu	37	19	45021033	45021033	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:45021033G>A	uc010ejn.1	-	5	1299	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F	CEACAM20_uc010ejo.1_Missense_Mutation_p.S428F|CEACAM20_uc010ejp.1_Intron|CEACAM20_uc010ejq.1_Intron	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	428	Ig-like C2-type 4.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GACTGAAGTGGAGCGGGCCAG	0.597000														206			159		0	0	0.014410	0	0
ZNF629	23361	broad.mit.edu	37	16	30794450	30794450	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:30794450C>A	uc002dzs.1	-	2	1407	c.1199G>T	c.(1198-1200)cGg>cTg	p.R400L		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Homo sapiens zinc finger protein 629 (ZNF629), mRNA.	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CTTGTAGGGCCGCTCGCCCGT	0.667000														6			12		1.61879e-10	1.92191e-10	0.013537	1	0
PRSS36	146547	broad.mit.edu	37	16	31150732	31150732	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr16:31150732G>A	uc002ebd.3	-	14	2354	c.2295C>T	c.(2293-2295)acC>acT	p.T765T	PRSS36_uc010vff.2_Silent_p.T540T|PRSS36_uc010vfg.2_Silent_p.T760T|PRSS36_uc010vfh.2_Silent_p.T662T	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	765	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GCGGTGCTGAGGTCATCTGCA	0.637000														54			35		0	0	0.006999	0	0
C12orf51	283450	broad.mit.edu	37	12	112650418	112650418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:112650418C>T	uc021reb.1	-	48	7496	c.7100G>A	c.(7099-7101)gGg>gAg	p.G2367E	C12orf51_uc001ttr.1_Missense_Mutation_p.G254E	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						AGGTGGAGTCCCCTCAGTTCT	0.507000														1			39		0	0	0.004289	0	0
GALR1	2587	broad.mit.edu	37	18	74980625	74980625	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr18:74980625G>A	uc002lms.4	+	2	1314	c.817G>A	c.(817-819)Gga>Aga	p.G273R		NM_001480	NP_001471	P47211	GALR1_HUMAN	Homo sapiens galanin receptor 1 (GALR1), mRNA.	273					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GGCTGAGTTTGGAGTTTTCCC	0.512000														48			67		0	0	0.014410	0	0
ATP13A4	84239	broad.mit.edu	37	3	193125150	193125150	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:193125150G>A	uc003ftd.3	-	28	3438	c.3330C>T	c.(3328-3330)tcC>tcT	p.S1110S	ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	1110					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)		TGATGACAATGGAGGCCCTCC	0.527000														47			17		0	0	0.010504	0	0
RASGRP3	25780	broad.mit.edu	37	2	33774771	33774771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:33774771G>A	uc002rox.3	+	14	2122	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	RASGRP3_uc010ync.2_Missense_Mutation_p.E499K|RASGRP3_uc002roy.3_Missense_Mutation_p.E498K	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA.	499					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)					TAATTTTCAGGAGATGACCTA	0.403000														22			6		0	0	0.001168	0	0
NNMT	4837	broad.mit.edu	37	11	114168749	114168749	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:114168749C>T	uc001por.1	+	3	495	c.231C>T	c.(229-231)tcC>tcT	p.S77S	NNMT_uc001pos.1_Silent_p.S77S	NM_006169	NP_006160	P40261	NNMT_HUMAN	Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	77					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CTTGTGAATCCTTTAAGGAGA	0.532000														21			37		0	0	0.006999	0	0
SLC4A5	57835	broad.mit.edu	37	2	74491355	74491356	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:74491355_74491356GG>AA	uc002sko.1	-	4	635_636	c.633_634CC>TT	c.(631-636)gtcctc>gtTTtc	p.L212F	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.L212F|SLC4A5_uc010ffc.1_Missense_Mutation_p.L212F|SLC4A5_uc002skp.1_Missense_Mutation_p.L148F|SLC4A5_uc002sks.1_Missense_Mutation_p.L212F	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	212						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CTCCTCAGGAGGACGTAACTGA	0.550000														30			6		0	0	0.004672	0	0
PSG2	5670	broad.mit.edu	37	19	43576076	43576076	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:43576076G>A	uc002ovr.3	-	3	912	c.740C>T	c.(739-741)tCa>tTa	p.S247L	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	247	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				ATTGGTGTATGAAGGGTGAAT	0.483000														100			48		0	0	0.014410	0	0
LRRC7	57554	broad.mit.edu	37	1	70484495	70484495	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:70484495G>A	uc001dep.3	+	12	1330	c.1300G>A	c.(1300-1302)Gat>Aat	p.D434N	LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	434						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						GCCTCGTGGTGATGAAGGTAA	0.388000														5			31		0	0	0.010818	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166831754	166831754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:166831754G>A	uc003qvd.1	-	20	2085	c.1972C>T	c.(1972-1974)Ctt>Ttt	p.L658F	RPS6KA2_uc011ego.1_Missense_Mutation_p.L544F|RPS6KA2_uc010kkl.1_Missense_Mutation_p.L544F|RPS6KA2_uc003qvb.1_Missense_Mutation_p.L633F|RPS6KA2_uc003qvc.1_Missense_Mutation_p.L641F|RPS6KA2_uc010kkk.1_Missense_Mutation_p.L65F	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.	633	Protein kinase 2.				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)		CCCCCAGAAAGGGCATACTTC	0.453000														3			41		0	0	0.009718	0	0
ALX4	60529	broad.mit.edu	37	11	44297060	44297060	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr11:44297060G>A	uc001myb.3	-	1	719	c.615C>T	c.(613-615)gcC>gcT	p.A205A		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	Homo sapiens ALX homeobox 4 (ALX4), mRNA.	205					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						TCTCTGAGTCGGCCTTCTCCA	0.627000														91			25		0	0	0.006320	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776180	77776180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:77776180G>A	uc003yau.2	+	10	10617	c.10230G>A	c.(10228-10230)atG>atA	p.M3410I		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3361						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)			AGTGCCAGATGATGTTTACTG	0.423000										HNSCC(33;0.089)				7			10		0	0	0.006214	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058957	152058957	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:152058957C>T	uc001ezo.1	-	2	1266	c.1201G>A	c.(1201-1203)Gga>Aga	p.G401R		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	401							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)			CCTGCTGTTCCATGGGCCTCA	0.468000														27			64		0	0	0.014410	0	0
MUC17	140453	broad.mit.edu	37	7	100699543	100699543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:100699543G>A	uc003uxp.1	+	11	13485	c.13432G>A	c.(13432-13434)Gaa>Aaa	p.E4478K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4478						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)					CATAGACCCTGAAACAAAGGT	0.488000														41			23		0	0	0.002780	0	0
SDK2	54549	broad.mit.edu	37	17	71426687	71426687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:71426687C>T	uc010dfm.3	-	11	1546	c.1546G>A	c.(1546-1548)Gtg>Atg	p.V516M	SDK2_uc010dfn.2_Missense_Mutation_p.V195M	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	516	Ig-like C2-type 6.				cell adhesion	integral to membrane		p.V516E(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						ACTCCGCACACCATGGAGGCC	0.597000														0			8		0	0	0.003080	0	0
COX7B2	170712	broad.mit.edu	37	4	46737038	46737038	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:46737038C>T	uc003gxf.3	-	2	352	c.172G>A	c.(172-174)Gcc>Acc	p.A58T	COX7B2_uc010ige.3_Non-coding_Transcript|COX7B2_uc021xny.1_Missense_Mutation_p.A58T	NM_130902	NP_570972	Q8TF08	CX7B2_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIb2 (COX7B2), mRNA.	58						integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			large_intestine(1)|lung(4)	5						ATCTGAGTGGCTGTAAACACC	0.423000														12			24		0	0	0.003330	0	0
SI	6476	broad.mit.edu	37	3	164739066	164739066	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:164739066C>T	uc003fei.3	-	26	3268	c.3205G>A	c.(3205-3207)Gaa>Aaa	p.E1069K		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1069	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)	AAAGGATTTTCCTTGATTTCC	0.353000										HNSCC(35;0.089)				65			67		0	0	0.014410	0	0
CDH6	1004	broad.mit.edu	37	5	31297437	31297437	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:31297437C>T	uc003jhe.2	+	3	925	c.565C>T	c.(565-567)Cca>Tca	p.P189S	CDH6_uc003jhd.2_Missense_Mutation_p.P189S	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	189	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.D188N(1)		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						TGCAGATGATCCAACATATGG	0.378000														46			26		0	0	0.010818	0	0
TRIM71	131405	broad.mit.edu	37	3	32932942	32932942	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:32932942C>T	uc003cff.3	+	3	2309	c.2246C>T	c.(2245-2247)tCc>tTc	p.S749F		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	749					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						CACTTTGACTCCCCACGGGGT	0.582000														0			20		0	0	0.010504	0	0
APOB	338	broad.mit.edu	37	2	21235348	21235348	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr2:21235348C>T	uc002red.3	-	25	4520	c.4392G>A	c.(4390-4392)caG>caA	p.Q1464Q		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1464					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)	AAGCAGACATCTGTGGTCCCC	0.383000														168			357		0	0	0.014410	0	0
LRFN2	57497	broad.mit.edu	37	6	40360351	40360351	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:40360351C>T	uc003oph.1	-	2	2166	c.1701G>A	c.(1699-1701)aaG>aaA	p.K567K		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	567						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)					CCGCTGCCATCTTGCTGGGGG	0.672000														25			5		0	0	0.001984	0	0
IGSF1	3547	broad.mit.edu	37	X	130409561	130409561	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chrX:130409561G>A	uc004ewe.4	-	15	3373	c.3090C>T	c.(3088-3090)atC>atT	p.I1030I	IGSF1_uc004ewd.3_Silent_p.I1025I|IGSF1_uc022cdv.1_Silent_p.I1016I|IGSF1_uc004ewf.2_Silent_p.I1005I	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1025	Ig-like C2-type 10.				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						ATATATTGGTGATGGGGAATG	0.522000														3			29		0	0	0.007291	0	0
BTN1A1	696	broad.mit.edu	37	6	26509210	26509210	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:26509210G>A	uc003nif.4	+	6	1446	c.1389G>A	c.(1387-1389)tgG>tgA	p.W463*		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	463	B30.2/SPRY.					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						TTTGCCTATGGTCTAGCGGTA	0.493000														49			24		0	0	0.005443	0	0
C3orf30	152405	broad.mit.edu	37	3	118867140	118867140	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:118867140G>A	uc003ecb.1	+	1	1552	c.1512G>A	c.(1510-1512)atG>atA	p.M504I	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.M504I	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	504										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)		TCCAATACATGGAAAAACACC	0.333000														28			21		0	0	0.012319	0	0
ERP44	23071	broad.mit.edu	37	9	102784421	102784421	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:102784421C>A	uc004bam.3	-	4	582	c.374G>T	c.(373-375)gGt>gTt	p.G125V	ERP44_uc010msy.3_Non-coding_Transcript	NM_015051	NP_055866	Q9BS26	ERP44_HUMAN	Homo sapiens endoplasmic reticulum protein 44 (ERP44), mRNA.	125	Thioredoxin.				cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	ER-Golgi intermediate compartment|endoplasmic reticulum lumen|endoplasmic reticulum membrane	protein binding|protein disulfide isomerase activity	p.R124S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						TGATCGCTGACCCCTGTATTC	0.413000														6			45		1.48734e-19	1.78241e-19	0.013114	1	0
KCND2	3751	broad.mit.edu	37	7	120387884	120387884	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:120387884G>A	uc003vjj.1	+	5	2830	c.1865G>A	c.(1864-1866)gGa>gAa	p.G622E		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	622					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)					TACTCAGGAGGAAATATTGTC	0.423000														21			26		0	0	0.008361	0	0
EVPL	2125	broad.mit.edu	37	17	74004282	74004282	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr17:74004282C>T	uc010wss.1	-	21	5298	c.5070G>A	c.(5068-5070)cgG>cgA	p.R1690R	EVPL_uc002jqi.2_Silent_p.R1668R|EVPL_uc010wst.1_Silent_p.R1138R	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1668	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGAGCTCCTCCCGGCTCACCT	0.647000														8			27		0	0	0.004656	0	0
FAM135B	51059	broad.mit.edu	37	8	139255187	139255187	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:139255187C>T	uc003yuy.3	-	6	838	c.667G>A	c.(667-669)Gag>Aag	p.E223K	FAM135B_uc003yux.3_Missense_Mutation_p.E124K|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	223								p.E223K(3)|p.S222*(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)			GGCCTTACCTCTGAGGAAGTC	0.463000										HNSCC(54;0.14)				28			21		0	0	0.010504	0	0
OR13C8	138802	broad.mit.edu	37	9	107332301	107332301	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:107332301G>A	uc011lvo.2	+	0	853	c.853G>A	c.(853-855)Gga>Aga	p.G285R		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CCTTTTCTATGGAGTGATGAC	0.418000														4			35		0	0	0.006999	0	0
TPTE2	93492	broad.mit.edu	37	13	20024216	20024216	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:20024216C>T	uc001umd.3	-	14	1184	c.973_splice	c.e14+1	p.G325_splice	TPTE2_uc009zzk.3_Splice_Site|TPTE2_uc009zzl.3_Splice_Site_p.G214_splice|TPTE2_uc001ume.3_Splice_Site_p.G248_splice|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Splice_Site	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	325	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATGTTATTACCTTTGCCTCCT	0.323000														33			6		0	0	0.002450	0	0
ASTN1	460	broad.mit.edu	37	1	176993846	176993846	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:176993846C>T	uc001glc.3	-	5	1355	c.1143G>A	c.(1141-1143)gtG>gtA	p.V381V	ASTN1_uc001glb.1_Silent_p.V381V|ASTN1_uc001gld.1_Silent_p.V381V|ASTN1_uc009wwx.1_Silent_p.V381V|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	381					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						TGGTCTTATTCACAGGACTTC	0.498000														8			11		0	0	0.013537	0	0
X97876	0	broad.mit.edu	37	9	66499716	66499716	+	Missense_Mutation	SNP	A	G	G	rs141617852	by1000genomes	TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr9:66499716A>G	uc004aee.1	+	0	526	c.526A>G	c.(526-528)Aat>Gat	p.N176D	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		CCTGGAGCCCAATCTGCTGGA	0.607000														53			7		0	0	0.006214	0	0
GPR116	221395	broad.mit.edu	37	6	46874491	46874491	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:46874491G>A	uc003oyo.3	-	1	298	c.9C>T	c.(7-9)tcC>tcT	p.S3S	GPR116_uc003oyp.3_Silent_p.S3S|GPR116_uc003oyq.3_Silent_p.S3S|GPR116_uc003oyr.2_Silent_p.S3S|BC042990_uc003oys.3_Intron	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	3					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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)			TTCTCCTTGGGGATTTCATGT	0.368000														15			37		0	0	0.003755	0	0
HNF1A	6927	broad.mit.edu	37	12	121416653	121416653	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:121416653C>T	uc001tzg.3	+	0	105	c.82C>T	c.(82-84)Cag>Tag	p.Q28*	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Nonsense_Mutation_p.Q28*|HNF1A_uc001tzf.3_Nonsense_Mutation_p.Q28*|HNF1A_uc010szn.2_Nonsense_Mutation_p.Q28*|HNF1A_uc021rfa.1_Nonsense_Mutation_p.Q28*|HNF1A_uc021rfb.1_5'UTR|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	28	Dimerization.				glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.Q28*(4)|p.I27_L30delIQAL(2)|p.A25_Q28del(2)|p.?(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCACTGATCCAGGCACTGGG	0.682000									Hepatic Adenoma, Familial Clustering of					25			185		0	0	0.014410	0	0
KRT18	3875	broad.mit.edu	37	12	53345288	53345288	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:53345288G>A	uc001sbe.3	+	4	750	c.681G>A	c.(679-681)caG>caA	p.Q227Q	KRT18_uc009zmn.2_Silent_p.Q227Q|KRT18_uc001sbg.3_Silent_p.Q227Q|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	NM_199187	NP_954657	P05783	K1C18_HUMAN	Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.	227	Linker 12.|Necessary for interaction with PNN.|Rod.				Golgi to plasma membrane CFTR protein transport|anatomical structure morphogenesis|cell cycle|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						TACAAGCCCAGATTGCCAGCT	0.547000														2			47		0	0	0.014410	0	0
ACR	49	broad.mit.edu	37	22	51182578	51182579	+	Missense_Mutation	DNP	GT	AA	AA	rs147392791		TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr22:51182578_51182579GT>AA	uc003bnh.4	+	3	667_668	c.655_656GT>AA	c.(655-657)gtt>AAt	p.V219N		NM_001097	NP_001088	P10323	ACRO_HUMAN	Homo sapiens acrosin (ACR), mRNA.	219	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	DNA binding|amidase activity|copper ion binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		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;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		CAATGGGCGCGTTCAGCCAACC	0.569000														180			58		0	0	0.004672	0	0
DNAH8	1769	broad.mit.edu	37	6	38810600	38810600	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr6:38810600C>T	uc021yzh.1	+	34	4875	c.4766C>T	c.(4765-4767)cCa>cTa	p.P1589L	DNAH8_uc003ooe.2_Missense_Mutation_p.P1372L	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						ACTGGAACCCCATTTGATGTG	0.388000														48			18		0	0	0.007413	0	0
AP1M2	10053	broad.mit.edu	37	19	10694662	10694662	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr19:10694662C>A	uc002mpd.3	-	1	211	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	AP1M2_uc002mpc.3_Nonsense_Mutation_p.E43*	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 2 subunit (AP1M2), mRNA.	43					cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			AGGGCGCCTTCCTCCTCCCGC	0.587000														7			6		2.0095e-06	2.36692e-06	0.001984	1	0
C5orf42	65250	broad.mit.edu	37	5	37167295	37167295	+	Silent	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr5:37167295G>A	uc011cpa.1	-	34	7485	c.7254C>T	c.(7252-7254)atC>atT	p.I2418I	C5orf42_uc011coy.1_Silent_p.I918I|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.I1493I	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2418										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTTCAAGTGGGATAAGTTGTG	0.323000														21			15		0	0	0.003163	0	0
AGRN	375790	broad.mit.edu	37	1	957749	957749	+	Silent	SNP	C	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:957749C>T	uc001ack.2	+	1	420	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	124	NtA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		ACCCCCATACCTGTGGCCAGC	0.587000														29			83		0	0	0.014410	0	0
SPRY1	10252	broad.mit.edu	37	4	124322750	124322750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr4:124322750G>A	uc003ifa.3	+	1	191	c.4G>A	c.(4-6)Gat>Aat	p.D2N	SPRY1_uc003ifb.3_Missense_Mutation_p.D2N|SPRY1_uc021xro.1_Missense_Mutation_p.D2N	NM_199327	NP_955359	O43609	SPY1_HUMAN	Homo sapiens sprouty homolog 1, antagonist of FGF signaling (Drosophila) (SPRY1), transcript variant 2, mRNA.	2					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						ACTACACATGGATCCCCAAAA	0.423000														16			72		0	0	0.014410	0	0
SDC3	9672	broad.mit.edu	37	1	31347287	31347287	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:31347287delG	uc001bse.2	-	3	1066	c.1019delC	c.(1018-1020)gcgfs	p.A340fs	SDC3_uc001bsd.2_Frame_Shift_Del_p.A282fs	NM_014654	NP_055469	O75056	SDC3_HUMAN	Homo sapiens syndecan 3 (SDC3), mRNA.	340						integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTTGGCCGCAGCCCCTCC	0.647													---	66	---	---	15	---					
KHDRBS1	10657	broad.mit.edu	37	1	32479677	32479677	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:32479677delC	uc001bub.3	+	0	187	c.81delC	c.(79-81)cacfs	p.H27fs	KHDRBS1_uc001bua.1_Frame_Shift_Del_p.H27fs|KHDRBS1_uc001buc.1_Non-coding_Transcript	NM_006559	NP_006550	Q07666	KHDR1_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 1 (KHDRBS1), mRNA.	27					G2/M transition of mitotic cell cycle|cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCGGTGCCCACCCCTCGGTGC	0.771													---	4	---	---	2	---					
ELAVL4	1996	broad.mit.edu	37	1	50666700	50666700	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:50666700delC	uc001csb.2	+	6	1261	c.993delC	c.(991-993)gacfs	p.D331fs	ELAVL4_uc001cry.3_Frame_Shift_Del_p.D320fs|ELAVL4_uc001crz.3_Frame_Shift_Del_p.D317fs|ELAVL4_uc001csa.3_Frame_Shift_Del_p.D334fs|ELAVL4_uc001csc.3_Frame_Shift_Del_p.D317fs|ELAVL4_uc010omz.2_Frame_Shift_Del_p.D322fs	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	331	RRM 3.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	p.R330C(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TGATTCGTGACTTCAACACCA	0.547													---	26	---	---	51	---					
ASPM	259266	broad.mit.edu	37	1	197074279	197074279	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr1:197074279delG	uc001gtu.3	-	17	4359	c.4102delC	c.(4102-4104)ctgfs	p.L1368fs	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1368	IQ 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCAATTTCAGAAATCTTTGT	0.308													---	10	---	---	29	---					
CTNNB1	1499	broad.mit.edu	37	3	41266134	41266136	+	In_Frame_Del	DEL	CTT	-	-	rs121913407		TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr3:41266134_41266136delCTT	uc010hia.1	+	3	287_289	c.131_133delCTT	c.(130-135)ccttct>cct	p.S45del	CTNNB1_uc003ckq.2_In_Frame_Del_p.S45del|CTNNB1_uc003ckp.2_In_Frame_Del_p.S45del|CTNNB1_uc003ckr.2_In_Frame_Del_p.S45del|CTNNB1_uc011azf.1_In_Frame_Del_p.S38del|CTNNB1_uc011azg.1_Intron|AK311005_uc010hib.1_Non-coding_Transcript	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	45			Missing (in colorectal cancer).|S -> F (in hepatocellular carcinoma).|S -> P (in hepatocellular carcinoma).		Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S45F(446)|p.S45P(362)|p.S45del(134)|p.A5_A80del(119)|p.S45Y(26)|p.S45C(23)|p.S45A(23)|p.A5_A80>D(14)|p.A5_Q143del(14)|p.Q28_H134del(10)|p.H24_S47del(9)|p.P44A(9)|p.W25_I140del(7)|p.P44L(5)|p.T3_A126del(4)|p.M5_N141>D(4)|p.D32_S47del(4)|p.P44_S45del(4)|p.A5_Y142>D(4)|p.?(4)|p.L10_N141del(4)|p.P44S(4)|p.S37_G48>C(2)|p.Q28_Q61del(2)|p.A20_N141del(2)|p.D11_Y142>H(2)|p.Y30_A97del(2)|p.A20_A80del(2)|p.E15_I140>V(2)|p.H24_M131del(2)|p.P44del(2)|p.A13_R151del(2)|p.M1_A87del(2)|p.P44_N51del(2)|p.V22_T102del(2)|p.S45E(2)|p.A21_A80del(2)|p.S45T(2)|p.I35_K170del(2)|p.S45_S47>C(2)|p.M14_S45del(2)|p.Q4_A80del(2)|p.T42_G48del(2)|p.P44_S45insAP(2)|p.S45_G48del(2)|p.V22_L139>V(2)|p.T42_K49>Q(2)|p.S45_D58del(2)|p.P16_K133del(2)|p.T40_L46del(2)|p.A5_T59del(2)|p.M1_V173del(2)|p.M8_A80del(2)|p.A5_Q143>E(2)|p.H36_E53>L(2)|p.Y30_A80del(2)|p.S45_L46del(2)|p.T41_N51del(2)|p.V22_Y64del(2)|p.A5_E54del(2)|p.V22_S71>A(2)|p.A20_S111del(2)|p.E9_S47del(1)|p.A20_R151del(1)|p.D17_P128del(1)|p.L7_I140del(1)|p.G38_S45del(1)|p.M8_L132del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.A20_Q143del(1)|p.A43_E53del(1)|p.S23_I140del(1)|p.Q4_D144del(1)|p.S45fs*2(1)|p.V22_A97del(1)|p.S45S(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.A5_R90del(1)|p.P44_S45>AP(1)|p.P44_S45insGATTTAP(1)|p.E9_I140del(1)|p.S45_E54del(1)|p.A43_E54del(1)|p.A5_Q72del(1)|p.D6_K133del(1)|p.A5_D144>D(1)|p.D17_A126del(1)|p.Q4_Y142del(1)|p.W25_A80del(1)|p.5_142>(1)|p.A20_Q72del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	ACCACAGCTCCTTCTCTGAGTGG	0.502		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				---	20	---	---	18	---					
TSGA13	114960	broad.mit.edu	37	7	130357651	130357652	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr7:130357651_130357652insT	uc003vqi.3	-	5	909_910	c.452_453insA	c.(451-453)aagfs	p.K151fs	TSGA13_uc003vqj.3_Frame_Shift_Ins_p.K151fs	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	Homo sapiens testis specific, 13 (TSGA13), mRNA.	151										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TAGATCTTAACTTTTTTTTCTG	0.450													---	1364	---	---	7	---					
ADAM32	203102	broad.mit.edu	37	8	39103631	39103641	+	Frame_Shift_Del	DEL	AAGGATAATTA	-	-			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr8:39103631_39103641delAAGGATAATTA	uc003xmt.4	+	16	2093_2103	c.1848_1858delAAGGATAATTA	c.(1846-1860)tcaaggataattaagfs	p.S616fs	ADAM32_uc011lch.2_Frame_Shift_Del_p.S517fs|ADAM32_uc003xmu.4_Frame_Shift_Del_p.S510fs|ADAM32_uc003xmv.3_Frame_Shift_Del_p.S40fs	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	616					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)			GTGTAGAATCAAGGATAATTAAGGCTTCAGC	0.360													---	73	---	---	17	---					
FAR2	55711	broad.mit.edu	37	12	29450110	29450110	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:29450110delA	uc001rit.3	+	3	790	c.522delA	c.(520-522)ccafs	p.P174fs	FAR2_uc001ris.4_Frame_Shift_Del_p.P174fs|FAR2_uc009zjm.3_Frame_Shift_Del_p.P77fs|AX746523_uc001riu.1_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	Homo sapiens fatty acyl CoA reductase 2 (FAR2), mRNA.	174					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGAGCCAAAAAAAATCA	0.388													---	172	---	---	7	---					
PLXNC1	10154	broad.mit.edu	37	12	94694762	94694763	+	Frame_Shift_Ins	INS	-	AC	AC			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr12:94694762_94694763insAC	uc001tdc.3	+	27	4564_4565	c.4315_4316insAC	c.(4315-4317)gacfs	p.D1439fs	PLXNC1_uc010sut.2_Frame_Shift_Ins_p.D486fs|PLXNC1_uc009zsv.3_Frame_Shift_Ins_p.D178fs	NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	1439					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						ACCACATATAGACGGCTGTTTG	0.441													---	14	---	---	80	---					
LIG4	3981	broad.mit.edu	37	13	108862892	108862893	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-EE-A2M6-06A-12D-A197-08	TCGA-EE-A2M6-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e88cd3a-dba8-4e17-825e-1a851793a5ae	fe83a8cb-b301-41e0-9833-ebd6602969a2	g.chr13:108862892_108862893delAA	uc001vqn.3	-	1	997_998	c.724_725delTT	c.(724-726)ttafs	p.L242fs	LIG4_uc001vqo.3_Frame_Shift_Del_p.L242fs|LIG4_uc010agf.3_Frame_Shift_Del_p.L242fs|LIG4_uc001vqp.3_Frame_Shift_Del_p.L242fs|LIG4_uc010agg.1_Frame_Shift_Del_p.L175fs|LIG4_uc021rmk.1_Frame_Shift_Del_p.L242fs	NM_002312	NP_996820	P49917	DNLI4_HUMAN	Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA.	242					DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|T cell differentiation in thymus|T cell receptor V(D)J recombination|cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to X-ray|response to gamma radiation|single strand break repair|somatic stem cell maintenance	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|condensed chromosome|cytoplasm|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TGCAGAAAATAAAGTGATAGAA	0.371								Non-homologous end-joining					---	30	---	---	10	---					
